The Journal of Family Practice

None of us like being wrong, especially about a patient’s diagnosis. To help you avoid diagnostic errors for 4 difficult diagnoses, read and study the article in this issue of JFP by Rosen and colleagues.¹ They discuss misdiagnosis of polymyalgia rheumatica, fibromyalgia, ovarian cancer, and Lewy body dementia to illustrate how we can go astray if we do not take care to pause and think through things carefully. They point out that, for quick and mostly accurate diagnoses, pattern recognition or type 1 thinking serves us well in a busy office practice. However, we must frequently pause and reflect, using type 2 thinking—especially when the puzzle pieces don’t quite fit together.

I still recall vividly a diagnostic error I made many years ago. One of my patients, whom I had diagnosed and was treating for hyperlipidemia, returned for follow-up while I was on vacation. My partner conducted the follow-up visit. To my chagrin, he noticed her puffy face and weight gain and ordered thyroid studies. Sure enough, my patient was severely hypothyroid, and her lipid levels normalized with thyroid replacement therapy.

I recall vividly a diagnostic error I made years ago. I was treating a patient for hyperlipidemia but my partner recognized it as a case of severe hypothyroid.

A happier tale for me was making the correct diagnosis for a woman with chronic cough. She had been evaluated by multiple specialists during the prior year and treated with a nasal steroid for allergies, a proton pump inhibitor for reflux, and a steroid inhaler for possible asthma. None of these relieved her cough. After reviewing her medication list and noting that it included amitriptyline, which has anticholinergic adverse effects, I recommended she stop taking that medication and the cough resolved.

John Ely, MD, MPH, a family physician who has spent his academic career investigating causes of and solutions to diagnostic errors, has outlined important steps we can take. These include: (1) obtaining your own complete medical history, (2) performing a “focused and purposeful” physical exam, (3) generating initial hypotheses and differentiating them through additional history taking, exams, and diagnostic tests, (4) pausing to reflect [my emphasis], and (5) embarking on a plan (while acknowledging uncertainty) and ensuring there is a pathway for follow-up.²

To help avoid diagnostic errors, Dr. Ely developed and uses a set of checklists that cover the differential diagnosis for 72 presenting complaints/conditions, including syncope, back pain, insomnia, and headache.² When you are faced with diagnostic uncertainty, it takes just a few minutes to run through the checklist for the patient’s presenting complaint.

None of us like being wrong, especially about a patient’s diagnosis. To help you avoid diagnostic errors for 4 difficult diagnoses, read and study the article in this issue of JFP by Rosen and colleagues.¹ They discuss misdiagnosis of polymyalgia rheumatica, fibromyalgia, ovarian cancer, and Lewy body dementia to illustrate how we can go astray if we do not take care to pause and think through things carefully. They point out that, for quick and mostly accurate diagnoses, pattern recognition or type 1 thinking serves us well in a busy office practice. However, we must frequently pause and reflect, using type 2 thinking—especially when the puzzle pieces don’t quite fit together.

I still recall vividly a diagnostic error I made many years ago. One of my patients, whom I had diagnosed and was treating for hyperlipidemia, returned for follow-up while I was on vacation. My partner conducted the follow-up visit. To my chagrin, he noticed her puffy face and weight gain and ordered thyroid studies. Sure enough, my patient was severely hypothyroid, and her lipid levels normalized with thyroid replacement therapy.

I recall vividly a diagnostic error I made years ago. I was treating a patient for hyperlipidemia but my partner recognized it as a case of severe hypothyroid.

A happier tale for me was making the correct diagnosis for a woman with chronic cough. She had been evaluated by multiple specialists during the prior year and treated with a nasal steroid for allergies, a proton pump inhibitor for reflux, and a steroid inhaler for possible asthma. None of these relieved her cough. After reviewing her medication list and noting that it included amitriptyline, which has anticholinergic adverse effects, I recommended she stop taking that medication and the cough resolved.

John Ely, MD, MPH, a family physician who has spent his academic career investigating causes of and solutions to diagnostic errors, has outlined important steps we can take. These include: (1) obtaining your own complete medical history, (2) performing a “focused and purposeful” physical exam, (3) generating initial hypotheses and differentiating them through additional history taking, exams, and diagnostic tests, (4) pausing to reflect [my emphasis], and (5) embarking on a plan (while acknowledging uncertainty) and ensuring there is a pathway for follow-up.²

To help avoid diagnostic errors, Dr. Ely developed and uses a set of checklists that cover the differential diagnosis for 72 presenting complaints/conditions, including syncope, back pain, insomnia, and headache.² When you are faced with diagnostic uncertainty, it takes just a few minutes to run through the checklist for the patient’s presenting complaint.

None of us like being wrong, especially about a patient’s diagnosis. To help you avoid diagnostic errors for 4 difficult diagnoses, read and study the article in this issue of JFP by Rosen and colleagues.¹ They discuss misdiagnosis of polymyalgia rheumatica, fibromyalgia, ovarian cancer, and Lewy body dementia to illustrate how we can go astray if we do not take care to pause and think through things carefully. They point out that, for quick and mostly accurate diagnoses, pattern recognition or type 1 thinking serves us well in a busy office practice. However, we must frequently pause and reflect, using type 2 thinking—especially when the puzzle pieces don’t quite fit together.

I still recall vividly a diagnostic error I made many years ago. One of my patients, whom I had diagnosed and was treating for hyperlipidemia, returned for follow-up while I was on vacation. My partner conducted the follow-up visit. To my chagrin, he noticed her puffy face and weight gain and ordered thyroid studies. Sure enough, my patient was severely hypothyroid, and her lipid levels normalized with thyroid replacement therapy.

I recall vividly a diagnostic error I made years ago. I was treating a patient for hyperlipidemia but my partner recognized it as a case of severe hypothyroid.

A happier tale for me was making the correct diagnosis for a woman with chronic cough. She had been evaluated by multiple specialists during the prior year and treated with a nasal steroid for allergies, a proton pump inhibitor for reflux, and a steroid inhaler for possible asthma. None of these relieved her cough. After reviewing her medication list and noting that it included amitriptyline, which has anticholinergic adverse effects, I recommended she stop taking that medication and the cough resolved.

John Ely, MD, MPH, a family physician who has spent his academic career investigating causes of and solutions to diagnostic errors, has outlined important steps we can take. These include: (1) obtaining your own complete medical history, (2) performing a “focused and purposeful” physical exam, (3) generating initial hypotheses and differentiating them through additional history taking, exams, and diagnostic tests, (4) pausing to reflect [my emphasis], and (5) embarking on a plan (while acknowledging uncertainty) and ensuring there is a pathway for follow-up.²

To help avoid diagnostic errors, Dr. Ely developed and uses a set of checklists that cover the differential diagnosis for 72 presenting complaints/conditions, including syncope, back pain, insomnia, and headache.² When you are faced with diagnostic uncertainty, it takes just a few minutes to run through the checklist for the patient’s presenting complaint.

THE CASE 

An active 61-year-old woman (140 lbs) in good health became ill during a sailing holiday in the Virgin Islands. During the trip, she ate various fish in local restaurants; after one lunch, she developed nausea, diarrhea, dizziness, headache, and light-headedness. In the following days, she suffered “intense itching” in the ears, dizziness, malaise, a “fluttering feeling” throughout her body, genitourinary sensitivity, and a “rhythmic buzzing sensation near the rectum.”

She said that cold objects and beverages felt uncomfortably hot (cold allodynia). She noted heightened senses of smell and taste, as well as paresthesia down her spine, and described feeling “moody.” She reduced her workload, took many days off from work, and ceased consuming meat and alcohol because these items seemed to aggravate her symptoms.

The paresthesia persisted, and she consulted her family physician one month later. Laboratory tests—including a complete blood count, hematocrit, thyroid-stimulating hormone, antinuclear antibodies, and titers for Ehrlichia chaffeensis, Lyme disease, and Anaplasma phagocytophila—all yielded normal results. Her symptoms continued for 3 more months before referral to Medical Toxicology.

THE DIAGNOSIS

The patient’s symptoms and history were consistent with ciguatera poisoning. Features supporting this diagnosis included an acute gastrointestinal illness after eating fish caught in tropical waters and subsequent persistent paresthesia, including cold allodynia.¹ Laboratory testing excluded acute infection, anemia, thyroid dysfunction, vitamin B12 deficiency, lupus, rheumatoid arthritis, Lyme disease, ehrlichiosis, and anaplasmosis.

DISCUSSION

Ciguatera results from ciguatoxin, a class of heat-stable polycyclic toxins produced in warm tropical waters by microscopic dinoflagellates (most often Gambierdiscus toxicus).^2,3 Small variations exist in the Caribbean, Pacific, and Indian Ocean forms. Ciguatoxin bio-­accumulates in the food chain, and humans most often ingest it by eating larger fish (typically barracuda, snapper, grouper, or amberjack).⁴ Because ciguatoxin confers no characteristic taste or smell to the fish, people who prepare or eat contaminated seafood have no reliable means to detect and avoid it.

Ciguatoxin opens neuronal voltage-gated sodium channels and blocks delayed-­rectifier potassium channels.⁵ These cause repetitive, spontaneous action potentials that explain the paresthesia. Sodium influx triggers an increase in intracellular calcium concentrations. Increased intracellular sodium and calcium concentrations draw water into the intracellular space and cause neuronal edema.

Death is rarely associated with ciguatera (< 0.1% in the largest observational study).¹ Even without treatment (discussed shortly), symptoms of ciguatera will gradually resolve over several weeks to several months in most cases.^1,4,5 However, after recovery, patients often briefly experience milder symptoms after consuming fish, alcohol, or nuts.⁶

Continue to: Treatment of ciguatera

Treatment of ciguatera may include intravenous (IV) mannitol infusion. Other treatments, such as amitriptyline, gabapentin, pregabalin, and tocainide, have been used, but there is limited supporting evidence and they appear variably effective.⁷

Mannitol reverses the effects of ciguatoxin, with suppression of spontaneous action potentials and reversal of neuronal edema.^8,9 It is reasonable to offer mannitol for acute or persistent symptoms of ciguatera fish poisoning even after a delay of several weeks.

Ciguatoxin confers no characteristic taste or smell to the fish. Thus, people who prepare or eat contaminated seafood have no reliable means to detect and avoid it.

A recent systematic review found that mannitol has the largest body of evidence supporting its use, although that evidence is generally of low quality (case reports and large case series).⁷ While these reports^10-13 describe beneficial effects of mannitol, a single randomized trial suggested that mannitol is no more effective than normal saline.¹⁴ However, this study was underpowered and had inadequate treatment concealment; twice as many saline control patients as mannitol-treated patients requested a rescue dose of mannitol.¹⁴

Mannitol may be most effective when given early in the course of ciguatera but has shown some success when given later.^5,12,13 In 1 large case series, the longest interval from symptom onset to successful treatment was 70 days, although most patients with satisfactory results received mannitol in the first few days.⁵

Our patient was administered an IV infusion of 100 g of 20% mannitol over 1 hour. She received the infusion 140 days after the onset of her symptoms and experienced rapid symptom relief.

Continue to: At a follow-up visit...

At a follow-up visit 2 weeks later, she described increased energy and further improvement in her paresthesia. She returned to a full work schedule and resumed all of her daily activities. However, she continued to avoid alcohol and proteins, as she had experienced a mild recurrence that she temporally related to eating meat and drinking alcohol.

At the 2-month follow-up, the patient reported continued improvement in her paresthesia but continued to experience occasional gastrointestinal symptoms and fatigue associated with meat and alcohol consumption.

The Takeaway 

Ciguatera fish poisoning is largely a clinical diagnosis. It is based on early gastrointestinal symptoms followed by persistent paresthesia and cold allodynia after consumption of fish caught in tropical waters. Family physicians may see ciguatera in returning travelers or people who have consumed certain fish imported from endemic areas. Untreated symptoms may last for many weeks or months. IV mannitol may relieve symptoms of ciguatera poisoning even when administered several months after symptom onset.

Acknowledgement
We are grateful to our patient, who allowed us to share her story in the hope of helping other travelers.

CORRESPONDENCE
Michael E. Mullins, MD, Division of Medical Toxicology, Department of Emergency Medicine, Washington University School of Medicine, Campus Box 8072, 660 South Euclid Avenue, Saint Louis, MO 63110; [email protected]

THE CASE 

An active 61-year-old woman (140 lbs) in good health became ill during a sailing holiday in the Virgin Islands. During the trip, she ate various fish in local restaurants; after one lunch, she developed nausea, diarrhea, dizziness, headache, and light-headedness. In the following days, she suffered “intense itching” in the ears, dizziness, malaise, a “fluttering feeling” throughout her body, genitourinary sensitivity, and a “rhythmic buzzing sensation near the rectum.”

She said that cold objects and beverages felt uncomfortably hot (cold allodynia). She noted heightened senses of smell and taste, as well as paresthesia down her spine, and described feeling “moody.” She reduced her workload, took many days off from work, and ceased consuming meat and alcohol because these items seemed to aggravate her symptoms.

The paresthesia persisted, and she consulted her family physician one month later. Laboratory tests—including a complete blood count, hematocrit, thyroid-stimulating hormone, antinuclear antibodies, and titers for Ehrlichia chaffeensis, Lyme disease, and Anaplasma phagocytophila—all yielded normal results. Her symptoms continued for 3 more months before referral to Medical Toxicology.

THE DIAGNOSIS

The patient’s symptoms and history were consistent with ciguatera poisoning. Features supporting this diagnosis included an acute gastrointestinal illness after eating fish caught in tropical waters and subsequent persistent paresthesia, including cold allodynia.¹ Laboratory testing excluded acute infection, anemia, thyroid dysfunction, vitamin B12 deficiency, lupus, rheumatoid arthritis, Lyme disease, ehrlichiosis, and anaplasmosis.

DISCUSSION

Ciguatera results from ciguatoxin, a class of heat-stable polycyclic toxins produced in warm tropical waters by microscopic dinoflagellates (most often Gambierdiscus toxicus).^2,3 Small variations exist in the Caribbean, Pacific, and Indian Ocean forms. Ciguatoxin bio-­accumulates in the food chain, and humans most often ingest it by eating larger fish (typically barracuda, snapper, grouper, or amberjack).⁴ Because ciguatoxin confers no characteristic taste or smell to the fish, people who prepare or eat contaminated seafood have no reliable means to detect and avoid it.

Ciguatoxin opens neuronal voltage-gated sodium channels and blocks delayed-­rectifier potassium channels.⁵ These cause repetitive, spontaneous action potentials that explain the paresthesia. Sodium influx triggers an increase in intracellular calcium concentrations. Increased intracellular sodium and calcium concentrations draw water into the intracellular space and cause neuronal edema.

Death is rarely associated with ciguatera (< 0.1% in the largest observational study).¹ Even without treatment (discussed shortly), symptoms of ciguatera will gradually resolve over several weeks to several months in most cases.^1,4,5 However, after recovery, patients often briefly experience milder symptoms after consuming fish, alcohol, or nuts.⁶

Continue to: Treatment of ciguatera

Treatment of ciguatera may include intravenous (IV) mannitol infusion. Other treatments, such as amitriptyline, gabapentin, pregabalin, and tocainide, have been used, but there is limited supporting evidence and they appear variably effective.⁷

Mannitol reverses the effects of ciguatoxin, with suppression of spontaneous action potentials and reversal of neuronal edema.^8,9 It is reasonable to offer mannitol for acute or persistent symptoms of ciguatera fish poisoning even after a delay of several weeks.

Ciguatoxin confers no characteristic taste or smell to the fish. Thus, people who prepare or eat contaminated seafood have no reliable means to detect and avoid it.

A recent systematic review found that mannitol has the largest body of evidence supporting its use, although that evidence is generally of low quality (case reports and large case series).⁷ While these reports^10-13 describe beneficial effects of mannitol, a single randomized trial suggested that mannitol is no more effective than normal saline.¹⁴ However, this study was underpowered and had inadequate treatment concealment; twice as many saline control patients as mannitol-treated patients requested a rescue dose of mannitol.¹⁴

Mannitol may be most effective when given early in the course of ciguatera but has shown some success when given later.^5,12,13 In 1 large case series, the longest interval from symptom onset to successful treatment was 70 days, although most patients with satisfactory results received mannitol in the first few days.⁵

Our patient was administered an IV infusion of 100 g of 20% mannitol over 1 hour. She received the infusion 140 days after the onset of her symptoms and experienced rapid symptom relief.

Continue to: At a follow-up visit...

At a follow-up visit 2 weeks later, she described increased energy and further improvement in her paresthesia. She returned to a full work schedule and resumed all of her daily activities. However, she continued to avoid alcohol and proteins, as she had experienced a mild recurrence that she temporally related to eating meat and drinking alcohol.

At the 2-month follow-up, the patient reported continued improvement in her paresthesia but continued to experience occasional gastrointestinal symptoms and fatigue associated with meat and alcohol consumption.

The Takeaway 

Ciguatera fish poisoning is largely a clinical diagnosis. It is based on early gastrointestinal symptoms followed by persistent paresthesia and cold allodynia after consumption of fish caught in tropical waters. Family physicians may see ciguatera in returning travelers or people who have consumed certain fish imported from endemic areas. Untreated symptoms may last for many weeks or months. IV mannitol may relieve symptoms of ciguatera poisoning even when administered several months after symptom onset.

Acknowledgement
We are grateful to our patient, who allowed us to share her story in the hope of helping other travelers.

CORRESPONDENCE
Michael E. Mullins, MD, Division of Medical Toxicology, Department of Emergency Medicine, Washington University School of Medicine, Campus Box 8072, 660 South Euclid Avenue, Saint Louis, MO 63110; [email protected]

THE CASE 

An active 61-year-old woman (140 lbs) in good health became ill during a sailing holiday in the Virgin Islands. During the trip, she ate various fish in local restaurants; after one lunch, she developed nausea, diarrhea, dizziness, headache, and light-headedness. In the following days, she suffered “intense itching” in the ears, dizziness, malaise, a “fluttering feeling” throughout her body, genitourinary sensitivity, and a “rhythmic buzzing sensation near the rectum.”

She said that cold objects and beverages felt uncomfortably hot (cold allodynia). She noted heightened senses of smell and taste, as well as paresthesia down her spine, and described feeling “moody.” She reduced her workload, took many days off from work, and ceased consuming meat and alcohol because these items seemed to aggravate her symptoms.

The paresthesia persisted, and she consulted her family physician one month later. Laboratory tests—including a complete blood count, hematocrit, thyroid-stimulating hormone, antinuclear antibodies, and titers for Ehrlichia chaffeensis, Lyme disease, and Anaplasma phagocytophila—all yielded normal results. Her symptoms continued for 3 more months before referral to Medical Toxicology.

THE DIAGNOSIS

The patient’s symptoms and history were consistent with ciguatera poisoning. Features supporting this diagnosis included an acute gastrointestinal illness after eating fish caught in tropical waters and subsequent persistent paresthesia, including cold allodynia.¹ Laboratory testing excluded acute infection, anemia, thyroid dysfunction, vitamin B12 deficiency, lupus, rheumatoid arthritis, Lyme disease, ehrlichiosis, and anaplasmosis.

DISCUSSION

Ciguatera results from ciguatoxin, a class of heat-stable polycyclic toxins produced in warm tropical waters by microscopic dinoflagellates (most often Gambierdiscus toxicus).^2,3 Small variations exist in the Caribbean, Pacific, and Indian Ocean forms. Ciguatoxin bio-­accumulates in the food chain, and humans most often ingest it by eating larger fish (typically barracuda, snapper, grouper, or amberjack).⁴ Because ciguatoxin confers no characteristic taste or smell to the fish, people who prepare or eat contaminated seafood have no reliable means to detect and avoid it.

Ciguatoxin opens neuronal voltage-gated sodium channels and blocks delayed-­rectifier potassium channels.⁵ These cause repetitive, spontaneous action potentials that explain the paresthesia. Sodium influx triggers an increase in intracellular calcium concentrations. Increased intracellular sodium and calcium concentrations draw water into the intracellular space and cause neuronal edema.

Death is rarely associated with ciguatera (< 0.1% in the largest observational study).¹ Even without treatment (discussed shortly), symptoms of ciguatera will gradually resolve over several weeks to several months in most cases.^1,4,5 However, after recovery, patients often briefly experience milder symptoms after consuming fish, alcohol, or nuts.⁶

Continue to: Treatment of ciguatera

Treatment of ciguatera may include intravenous (IV) mannitol infusion. Other treatments, such as amitriptyline, gabapentin, pregabalin, and tocainide, have been used, but there is limited supporting evidence and they appear variably effective.⁷

Mannitol reverses the effects of ciguatoxin, with suppression of spontaneous action potentials and reversal of neuronal edema.^8,9 It is reasonable to offer mannitol for acute or persistent symptoms of ciguatera fish poisoning even after a delay of several weeks.

Ciguatoxin confers no characteristic taste or smell to the fish. Thus, people who prepare or eat contaminated seafood have no reliable means to detect and avoid it.

A recent systematic review found that mannitol has the largest body of evidence supporting its use, although that evidence is generally of low quality (case reports and large case series).⁷ While these reports^10-13 describe beneficial effects of mannitol, a single randomized trial suggested that mannitol is no more effective than normal saline.¹⁴ However, this study was underpowered and had inadequate treatment concealment; twice as many saline control patients as mannitol-treated patients requested a rescue dose of mannitol.¹⁴

Mannitol may be most effective when given early in the course of ciguatera but has shown some success when given later.^5,12,13 In 1 large case series, the longest interval from symptom onset to successful treatment was 70 days, although most patients with satisfactory results received mannitol in the first few days.⁵

Our patient was administered an IV infusion of 100 g of 20% mannitol over 1 hour. She received the infusion 140 days after the onset of her symptoms and experienced rapid symptom relief.

Continue to: At a follow-up visit...

At a follow-up visit 2 weeks later, she described increased energy and further improvement in her paresthesia. She returned to a full work schedule and resumed all of her daily activities. However, she continued to avoid alcohol and proteins, as she had experienced a mild recurrence that she temporally related to eating meat and drinking alcohol.

At the 2-month follow-up, the patient reported continued improvement in her paresthesia but continued to experience occasional gastrointestinal symptoms and fatigue associated with meat and alcohol consumption.

The Takeaway 

Ciguatera fish poisoning is largely a clinical diagnosis. It is based on early gastrointestinal symptoms followed by persistent paresthesia and cold allodynia after consumption of fish caught in tropical waters. Family physicians may see ciguatera in returning travelers or people who have consumed certain fish imported from endemic areas. Untreated symptoms may last for many weeks or months. IV mannitol may relieve symptoms of ciguatera poisoning even when administered several months after symptom onset.

Acknowledgement
We are grateful to our patient, who allowed us to share her story in the hope of helping other travelers.

CORRESPONDENCE
Michael E. Mullins, MD, Division of Medical Toxicology, Department of Emergency Medicine, Washington University School of Medicine, Campus Box 8072, 660 South Euclid Avenue, Saint Louis, MO 63110; [email protected]

A healthy woman in her 60s presented to the clinic with a 1-month history of red, itchy, and slightly painful nodules on the scalp and back. The patient had travelled to Belize for a vacation in the weeks prior to the onset of the lesions. She was initially given a course of cephalexin for presumed furunculosis at another clinic, without improvement.

Examination revealed inflamed nodules with a central open pore on the left upper back (FIGURE 1) and the occipital scalp. Notably, when the lesions were observed with a dermatoscope, intermittent air bubbles were seen through the skin opening.

WHAT IS YOUR DIAGNOSIS?
HOW WOULD YOU TREAT THIS PATIENT?

Given the patient’s clinical presentation and travel history, furuncular myiasis infestation was suspected and confirmed by punch biopsy. Pathologic exam revealed botfly larvae in both wounds, consistent with the human botfly, Dermatobia hominis (FIGURE 2). Myiasis is not common in the United States but should be suspected in patients who have recently traveled to tropical or subtropical areas. Furuncular myiasis describes the condition in which fly larvae penetrate healthy skin in a localized fashion, leading to the development of a ­furuncle-like nodule with 1 or more larvae within it.

Dermatobia hominis is the most common causative organism for furuncular myiasis in the regions of the Americas. Patients typically present with 1 lesion on an exposed part of the body (eg, scalp, face, extremities). The lesions typically contain a central pore with purulent or serosanguinous exudate.¹ Upon dermatoscopic inspection, one can often see the posterior part of the larva or the respiratory spiracles, which look like tiny black dots on the surface of the wound. The organism may also be indirectly viewed through respiratory bubble formation within the exudate.^1,2 Diagnosis is confirmed by extracting the larvae from the wound and having the species identified by an experienced pathologist or parasitologist.

Mode of transmission

Phoresis is the name of the process by which Dermatobia hominis invades the skin.³ The female fly lays her eggs onto captured mosquitos using a quick-drying adhesive. The eggs are then transferred to the host by a mosquito bite. The host’s body heat induces egg hatching, and the larvae burrow into follicular openings or skin perforations. This leads to the development of a small erythematous papule, which can further lead to a furuncle-like nodule with a central pore that allows the organism to respirate. When ready to pupate, the larvae work their way to the skin surface and drop to the soil, where they can further develop. After pupation, the fly hatches and develops into an adult, and the cycle repeats.

Common infectious and inflammatory lesions are in the differential Dx

The differential diagnosis includes bacterial abscess, exaggerated arthropod reaction, and ruptured epidermal cyst. With our patient, the travel history and unique exam findings led to the suspicion of myiasis.

Bacterial abscess is likely to have more notable purulence with response to appropriate oral antibiotics and no bubbling phenomenon on exam. It is also unlikely to be present for 1 month without progressive worsening.

Continue to: Exaggerated arthropod reaction

Exaggerated arthropod reaction usually manifests as a smooth, red, papular lesion without bubble formation from a central pore.

Ruptured epidermal cyst would be considered if there was a known preexisting cyst that recently changed. No bubble formation would be observed from the central pore.

Extraction is the treatment of choice

Treatment of furuncular myiasis involves removing the larvae or forcing them out of the lesion. Wounds can be covered with a substance, such as petrolatum, nail polish, beeswax, paraffin, or mineral oil, to block respiration.³ Occlusion may be needed for 24 hours to create adequate localized hypoxia to force the larvae to migrate from the wound and allow for easier manual extraction. Surgical removal of the larvae is also effective. A cruciate incision can be made adjacent to the central pore to avoid damaging the organisms.³ A topical, broad-based antiparasitic, such as a 10% ivermectin solution, has also been successfully used to treat furuncular myiasis. This approach works by either inducing larval migration outward or simply killing the larvae.³

Our patient recovered well after we performed a punch biopsy to make a larger wound opening and remove the intact larvae.

ACKNOWLEDGMENT
We thank Richard Pollack, PhD, at IdentifyUS, LLC, for providing the botfly larvae photo.

A healthy woman in her 60s presented to the clinic with a 1-month history of red, itchy, and slightly painful nodules on the scalp and back. The patient had travelled to Belize for a vacation in the weeks prior to the onset of the lesions. She was initially given a course of cephalexin for presumed furunculosis at another clinic, without improvement.

Examination revealed inflamed nodules with a central open pore on the left upper back (FIGURE 1) and the occipital scalp. Notably, when the lesions were observed with a dermatoscope, intermittent air bubbles were seen through the skin opening.

WHAT IS YOUR DIAGNOSIS?
HOW WOULD YOU TREAT THIS PATIENT?

Given the patient’s clinical presentation and travel history, furuncular myiasis infestation was suspected and confirmed by punch biopsy. Pathologic exam revealed botfly larvae in both wounds, consistent with the human botfly, Dermatobia hominis (FIGURE 2). Myiasis is not common in the United States but should be suspected in patients who have recently traveled to tropical or subtropical areas. Furuncular myiasis describes the condition in which fly larvae penetrate healthy skin in a localized fashion, leading to the development of a ­furuncle-like nodule with 1 or more larvae within it.

Dermatobia hominis is the most common causative organism for furuncular myiasis in the regions of the Americas. Patients typically present with 1 lesion on an exposed part of the body (eg, scalp, face, extremities). The lesions typically contain a central pore with purulent or serosanguinous exudate.¹ Upon dermatoscopic inspection, one can often see the posterior part of the larva or the respiratory spiracles, which look like tiny black dots on the surface of the wound. The organism may also be indirectly viewed through respiratory bubble formation within the exudate.^1,2 Diagnosis is confirmed by extracting the larvae from the wound and having the species identified by an experienced pathologist or parasitologist.

Mode of transmission

Phoresis is the name of the process by which Dermatobia hominis invades the skin.³ The female fly lays her eggs onto captured mosquitos using a quick-drying adhesive. The eggs are then transferred to the host by a mosquito bite. The host’s body heat induces egg hatching, and the larvae burrow into follicular openings or skin perforations. This leads to the development of a small erythematous papule, which can further lead to a furuncle-like nodule with a central pore that allows the organism to respirate. When ready to pupate, the larvae work their way to the skin surface and drop to the soil, where they can further develop. After pupation, the fly hatches and develops into an adult, and the cycle repeats.

Common infectious and inflammatory lesions are in the differential Dx

The differential diagnosis includes bacterial abscess, exaggerated arthropod reaction, and ruptured epidermal cyst. With our patient, the travel history and unique exam findings led to the suspicion of myiasis.

Bacterial abscess is likely to have more notable purulence with response to appropriate oral antibiotics and no bubbling phenomenon on exam. It is also unlikely to be present for 1 month without progressive worsening.

Continue to: Exaggerated arthropod reaction

Exaggerated arthropod reaction usually manifests as a smooth, red, papular lesion without bubble formation from a central pore.

Ruptured epidermal cyst would be considered if there was a known preexisting cyst that recently changed. No bubble formation would be observed from the central pore.

Extraction is the treatment of choice

Treatment of furuncular myiasis involves removing the larvae or forcing them out of the lesion. Wounds can be covered with a substance, such as petrolatum, nail polish, beeswax, paraffin, or mineral oil, to block respiration.³ Occlusion may be needed for 24 hours to create adequate localized hypoxia to force the larvae to migrate from the wound and allow for easier manual extraction. Surgical removal of the larvae is also effective. A cruciate incision can be made adjacent to the central pore to avoid damaging the organisms.³ A topical, broad-based antiparasitic, such as a 10% ivermectin solution, has also been successfully used to treat furuncular myiasis. This approach works by either inducing larval migration outward or simply killing the larvae.³

Our patient recovered well after we performed a punch biopsy to make a larger wound opening and remove the intact larvae.

ACKNOWLEDGMENT
We thank Richard Pollack, PhD, at IdentifyUS, LLC, for providing the botfly larvae photo.

A healthy woman in her 60s presented to the clinic with a 1-month history of red, itchy, and slightly painful nodules on the scalp and back. The patient had travelled to Belize for a vacation in the weeks prior to the onset of the lesions. She was initially given a course of cephalexin for presumed furunculosis at another clinic, without improvement.

Examination revealed inflamed nodules with a central open pore on the left upper back (FIGURE 1) and the occipital scalp. Notably, when the lesions were observed with a dermatoscope, intermittent air bubbles were seen through the skin opening.

WHAT IS YOUR DIAGNOSIS?
HOW WOULD YOU TREAT THIS PATIENT?

Given the patient’s clinical presentation and travel history, furuncular myiasis infestation was suspected and confirmed by punch biopsy. Pathologic exam revealed botfly larvae in both wounds, consistent with the human botfly, Dermatobia hominis (FIGURE 2). Myiasis is not common in the United States but should be suspected in patients who have recently traveled to tropical or subtropical areas. Furuncular myiasis describes the condition in which fly larvae penetrate healthy skin in a localized fashion, leading to the development of a ­furuncle-like nodule with 1 or more larvae within it.

Dermatobia hominis is the most common causative organism for furuncular myiasis in the regions of the Americas. Patients typically present with 1 lesion on an exposed part of the body (eg, scalp, face, extremities). The lesions typically contain a central pore with purulent or serosanguinous exudate.¹ Upon dermatoscopic inspection, one can often see the posterior part of the larva or the respiratory spiracles, which look like tiny black dots on the surface of the wound. The organism may also be indirectly viewed through respiratory bubble formation within the exudate.^1,2 Diagnosis is confirmed by extracting the larvae from the wound and having the species identified by an experienced pathologist or parasitologist.

Mode of transmission

Phoresis is the name of the process by which Dermatobia hominis invades the skin.³ The female fly lays her eggs onto captured mosquitos using a quick-drying adhesive. The eggs are then transferred to the host by a mosquito bite. The host’s body heat induces egg hatching, and the larvae burrow into follicular openings or skin perforations. This leads to the development of a small erythematous papule, which can further lead to a furuncle-like nodule with a central pore that allows the organism to respirate. When ready to pupate, the larvae work their way to the skin surface and drop to the soil, where they can further develop. After pupation, the fly hatches and develops into an adult, and the cycle repeats.

Common infectious and inflammatory lesions are in the differential Dx

The differential diagnosis includes bacterial abscess, exaggerated arthropod reaction, and ruptured epidermal cyst. With our patient, the travel history and unique exam findings led to the suspicion of myiasis.

Bacterial abscess is likely to have more notable purulence with response to appropriate oral antibiotics and no bubbling phenomenon on exam. It is also unlikely to be present for 1 month without progressive worsening.

Continue to: Exaggerated arthropod reaction

Exaggerated arthropod reaction usually manifests as a smooth, red, papular lesion without bubble formation from a central pore.

Ruptured epidermal cyst would be considered if there was a known preexisting cyst that recently changed. No bubble formation would be observed from the central pore.

Extraction is the treatment of choice

Treatment of furuncular myiasis involves removing the larvae or forcing them out of the lesion. Wounds can be covered with a substance, such as petrolatum, nail polish, beeswax, paraffin, or mineral oil, to block respiration.³ Occlusion may be needed for 24 hours to create adequate localized hypoxia to force the larvae to migrate from the wound and allow for easier manual extraction. Surgical removal of the larvae is also effective. A cruciate incision can be made adjacent to the central pore to avoid damaging the organisms.³ A topical, broad-based antiparasitic, such as a 10% ivermectin solution, has also been successfully used to treat furuncular myiasis. This approach works by either inducing larval migration outward or simply killing the larvae.³

Our patient recovered well after we performed a punch biopsy to make a larger wound opening and remove the intact larvae.

ACKNOWLEDGMENT
We thank Richard Pollack, PhD, at IdentifyUS, LLC, for providing the botfly larvae photo.

ABSTRACT

Background: Medical assistant (MA) roles have expanded rapidly as primary care has evolved and MAs take on new patient care duties. Research that looks at the MA experience and factors that enhance or reduce efficiency among MAs is limited.

Methods: We surveyed all MAs working in 6 clinics run by a large academic family medicine department in Ann Arbor, Michigan. MAs deemed by peers as “most efficient” were selected for follow-up interviews. We evaluated personal strategies for efficiency, barriers to efficient care, impact of physician actions on efficiency, and satisfaction.

Results: A total of 75/86 MAs (87%) responded to at least some survey questions and 61/86 (71%) completed the full survey. We interviewed 18 MAs face to face. Most saw their role as essential to clinic functioning and viewed health care as a personal calling. MAs identified common strategies to improve efficiency and described the MA role to orchestrate the flow of the clinic day. Staff recognized differing priorities of patients, staff, and physicians and articulated frustrations with hierarchy and competing priorities as well as behaviors that impeded clinic efficiency. Respondents emphasized the importance of feeling valued by others on their team.

Conclusions: With the evolving demands made on MAs’ time, it is critical to understand how the most effective staff members manage their role and highlight the strategies they employ to provide efficient clinical care. Understanding factors that increase or decrease MA job satisfaction can help identify high-efficiency practices and promote a clinic culture that values and supports all staff.

As primary care continues to evolve into more team-based practice, the role of the medical assistant (MA) has rapidly transformed.¹ Staff may assist with patient management, documentation in the electronic medical record, order entry, pre-visit planning, and fulfillment of quality metrics, particularly in a Primary Care Medical Home (PCMH).² From 2012 through 2014, MA job postings per graduate increased from 1.3 to 2.3, suggesting twice as many job postings as graduates.³ As the demand for experienced MAs increases, the ability to recruit and retain high-performing staff members will be critical.

MAs are referenced in medical literature as early as the 1800s.⁴ The American Association of Medical Assistants was founded in 1956, which led to educational standardization and certifications.⁵ Despite the important role that MAs have long played in the proper functioning of a medical clinic—and the knowledge that team configurations impact a clinic’s efficiency and quality^6,7—few investigations have sought out the MA’s perspective.^8,9 Given the increasing clinical demands placed on all members of the primary care team (and the burnout that often results), it seems that MA insights into clinic efficiency could be valuable.

METHODS

This cross-sectional study was conducted from February to April 2019 at a large academic institution with 6 regional ambulatory care family medicine clinics, each one with 11,000 to 18,000 patient visits annually. Faculty work at all 6 clinics and residents at 2 of them. All MAs are hired, paid, and managed by a central administrative department rather than by the family medicine department. The family medicine clinics are currently PCMH certified, with a mix of fee-for-service and capitated reimbursement.

Continue to: We developed and piloted...

We developed and piloted a voluntary, anonymous 39-question (29 closed-ended and 10 brief open-ended) online Qualtrics survey, which we distributed via an email link to all the MAs in the department. The survey included clinic site, years as an MA, perceptions of the clinic environment, perception of teamwork at their site, identification of efficient practices, and feedback for physicians to improve efficiency and flow. Most questions were Likert-style with 5 choices ranging from “strongly agree” to “strongly disagree” or short answer. Age and gender were omitted to protect confidentiality, as most MAs in the department are female. Participants could opt to enter in a drawing for three $25 gift cards. The survey was reviewed by the University of Michigan Institutional Review Board and deemed exempt.

Seventy-five percent of MAs reported preclinic huddles to plan for patient care were helpful, but only half said huddles took place “always” or “most of the time.”

We asked MAs to nominate peers in their clinic who were “especially efficient and do their jobs well—people that others can learn from.” The staff members who were nominated most frequently by their peers were invited to share additional perspectives via a 10- to 30-minute semi-structured interview with the first author. Interviews covered highly efficient practices, barriers and facilitators to efficient care, and physician behaviors that impaired efficiency. We interviewed a minimum of 2 MAs per clinic and increased the number of interviews through snowball sampling, as needed, to reach data saturation (eg, the point at which we were no longer hearing new content). MAs were assured that all comments would be anonymized. There was no monetary incentive for the interviews. The interviewer had previously met only 3 of the 18 MAs interviewed.

Analysis. Summary statistics were calculated for quantitative data. To compare subgroups (such as individual clinics), a chi-square test was used. In cases when there were small cell sizes (< 5 subjects), we used the Fisher’s Exact test. Qualitative data was collected with real-time typewritten notes during the interviews to capture ideas and verbatim quotes when possible. We also included open-ended comments shared on the Qualtrics survey. Data were organized by theme using a deductive coding approach. Both authors reviewed and discussed observations, and coding was conducted by the first author. Reporting followed the STROBE Statement checklist for cross-sectional studies.¹⁰ Results were shared with MAs, supervisory staff, and physicians, which allowed for feedback and comments and served as “member-checking.” MAs reported that the data reflected their lived experiences.

RESULTS

Surveys were distributed to all 86 MAs working in family medicine clinics. A total of 75 (87%) responded to at least some questions (typically just demographics). We used those who completed the full survey (n = 61; 71%) for data analysis. Eighteen MAs participated in face-to-face interviews. Among respondents, 35 (47%) had worked at least 10 years as an MA and 21 (28%) had worked at least a decade in the family medicine department.

Perception of role

All respondents (n = 61; 100%) somewhat or strongly agreed that the MA role was “very important to keep the clinic functioning” and 58 (95%) reported that working in health care was “a calling” for them. Only 7 (11%) agreed that family medicine was an easier environment for MAs compared to a specialty clinic; 30 (49%) disagreed with this. Among respondents, 32 (53%) strongly or somewhat agreed that their work was very stressful and just half (n = 28; 46%) agreed there were adequate MA staff at their clinic.

Continue to: Efficiency and competing priorities

Efficiency and competing priorities

MAs described important work values that increased their efficiency. These included clinic culture (good communication and strong teamwork), as well as individual strategies such as multitasking, limiting patient conversations, and doing tasks in a consistent way to improve accuracy. (See TABLE 1.) They identified ways physicians bolster or hurt efficiency and ways in which the relationship between the physician and the MA shapes the MA’s perception of their value in clinic.

When asked about “pet peeves,” a few MAs advised that physicians should not “talk down” to staff and should try to teach rather than criticize.

Communication was emphasized as critical for efficient care, and MAs encouraged the use of preclinic huddles and communication as priorities. Seventy-five percent of MAs reported preclinic huddles to plan for patient care were helpful, but only half said huddles took place “always” or “most of the time.” Many described reviewing the schedule and completing tasks ahead of patient arrival as critical to efficiency.

Participants described the tension between their identified role of orchestrating clinic flow and responding to directives by others that disrupted the flow. Several MAs found it challenging when physicians agreed to see very late patients and felt frustrated when decisions that changed the flow were made by the physician or front desk staff without including the MA. MAs were also able to articulate how they managed competing priorities within the clinic, such as when a patient- or physician-driven need to extend appointments was at odds with maintaining a timely schedule. They were eager to share personal tips for time management and prided themselves on careful and accurate performance and skills they had learned on the job. MAs also described how efficiency could be adversely affected by the behaviors or attitudes of physicians. (See TABLE 2.)

Clinic environment

Thirty-six MAs (59%) reported that other MAs on their team were willing to help them out in clinic “a great deal” or “a lot” of the time, by helping to room a patient, acting as a chaperone for an exam, or doing a point-of-care lab. This sense of support varied across clinics (38% to 91% reported good support), suggesting that cultures vary by site. Some MAs expressed frustration at peers they saw as resistant to helping, exemplified by this verbatim quote from an interview:

“ Some don’t want to help out. They may sigh. It’s how they react—you just know.” (Clinic #1, MA #2 interview)

Efficient MAs stressed the need for situational awareness to recognize when co-workers need help:

“ [Peers often] are not aware that another MA is drowning. There’s 5 people who could have done that, and here I am running around and nobody budged.” (Clinic #5, MA #2 interview)

Continue to: A minority of staff...

A minority of staff used the open-ended survey sections to describe clinic hierarchy. When asked about “pet peeves,” a few advised that physicians should not “talk down” to staff and should try to teach rather than criticize. Another asked that physicians not “bark orders” or have “low gratitude” for staff work. MAs found micromanaging stressful—particularly when the physician prompted the MA about patient arrivals:

“[I don’t like] when providers will make a comment about a patient arriving when you already know this information. You then rush to put [the] patient in [a] room, then [the] provider ends up making [the] patient wait an extensive amount of time. I’m perfectly capable of knowing when a patient arrives.” (Clinic #6, survey)

MAs did not like physicians “talking bad about us” or blaming the MA if the clinic is running behind.

Despite these concerns, most MAs reported feeling appreciated for the job they do. Only 10 (16%) reported that the people they work with rarely say “thank you,” and 2 (3%) stated they were not well supported by the physicians in clinic. Most (n = 38; 62%) strongly agreed or agreed that they felt part of the team and that their opinions matter. In the interviews, many expanded on this idea:

“I really feel like I’m valued, so I want to do everything I can to make [my doctor’s] day go better. If you want a good clinic, the best thing a doc can do is make the MA feel valued.” (Clinic #1, MA #1 interview)

DISCUSSION

Participants described their role much as an orchestra director, with MAs as the key to clinic flow and timeliness.⁹ Respondents articulated multiple common strategies used to increase their own efficiency and clinic flow; these may be considered best practices and incorporated as part of the basic training. Most MAs reported their day-to-day jobs were stressful and believed this was underrecognized, so efficiency strategies are critical. With staff completing multiple time-sensitive tasks during clinic, consistent co-worker support is crucial and may impact efficiency.⁸ Proper training of managers to provide that support and ensure equitable workloads may be one strategy to ensure that staff members feel the workplace is fair and collegial.

Several comments reflected the power differential within medical offices. One study reported that MAs and physicians “occupy roles at opposite ends of social and occupational hierarchies.”¹¹ It’s important for physicians to be cognizant of these patterns and clinic culture, as reducing a hierarchy-based environment will be appreciated by MAs.⁹ Prior research has found that MAs have higher perceptions of their own competence than do the physicians working with them.¹² If there is a fundamental lack of trust between the 2 groups, this will undoubtedly hinder team-building. Attention to this issue is key to a more favorable work environment.

Continue to: Almost all respondents...

Almost all respondents reported health care was a “calling,” which mirrors physician research that suggests seeing work as a “calling” is protective against burnout.^13,14 Open-ended comments indicated great pride in contributions, and most staff members felt appreciated by their teams. Many described the working relationships with physicians as critical to their satisfaction at work and indicated that strong partnerships motivated them to do their best to make the physician’s day easier. Staff job satisfaction is linked to improved quality of care, so treating staff well contributes to high-value care for patients.¹⁵ We also uncovered some MA “pet peeves” that hinder efficiency and could be shared with physicians to emphasize the importance of patience and civility.

One barrier to expansion of MA roles within PCMH practices is the limited pay and career ladder for MAs who adopt new job responsibilities that require advanced skills or training.^1,2 The mean MA salary at our institution ($37,372) is higher than in our state overall ($33,760), which may impact satisfaction.¹⁶ In addition, 93% of MAs are women; thus, they may continue to struggle more with lower pay than do workers in male-­dominated professions.^17,18 Expected job growth from 2018-2028 is predicted at 23%, which may help to boost salaries.¹⁹ Prior studies describe the lack of a job ladder or promotion opportunities as a challenge^1,20; this was not formally assessed in our study.

Prior research has found that MAs have higher perceptions of their own competence than do the physicians working with them.

MAs see work in family medicine as much harder than it is in other specialty clinics. Being trusted with more responsibility, greater autonomy,^21-23 and expanded patient care roles can boost MA self-efficacy, which can reduce burnout for both physicians and MAs.^8,24 However, new responsibilities should include appropriate training, support, and compensation, and match staff interests.⁷

Study limitations. The study was limited to 6 clinics in 1 department at a large academic medical center. Interviewed participants were selected by convenience and snowball sampling and thus, the results cannot be generalized to the population of MAs as a whole. As the initial interview goal was simply to gather efficiency tips, the project was not designed to be formal qualitative research. However, the discussions built on open-ended comments from the written survey helped contextualize our quantitative findings about efficiency. Notes were documented in real time by a single interviewer with rapid typing skills, which allowed capture of quotes verbatim. Subsequent studies would benefit from more formal qualitative research methods (recording and transcribing interviews, multiple coders to reduce risk of bias, and more complex thematic analysis).

Our research demonstrated how MAs perceive their roles in primary care and the facilitators and barriers to high efficiency in the workplace, which begins to fill an important knowledge gap in primary care. Disseminating practices that staff members themselves have identified as effective, and being attentive to how staff members are treated, may increase individual efficiency while improving staff retention and satisfaction.

CORRESPONDENCE
Katherine J. Gold, MD, MSW, MS, Department of Family Medicine and Department of Obstetrics and Gynecology, University of Michigan, 1018 Fuller Street, Ann Arbor, MI 48104-1213; [email protected]

ABSTRACT

Background: Medical assistant (MA) roles have expanded rapidly as primary care has evolved and MAs take on new patient care duties. Research that looks at the MA experience and factors that enhance or reduce efficiency among MAs is limited.

Methods: We surveyed all MAs working in 6 clinics run by a large academic family medicine department in Ann Arbor, Michigan. MAs deemed by peers as “most efficient” were selected for follow-up interviews. We evaluated personal strategies for efficiency, barriers to efficient care, impact of physician actions on efficiency, and satisfaction.

Results: A total of 75/86 MAs (87%) responded to at least some survey questions and 61/86 (71%) completed the full survey. We interviewed 18 MAs face to face. Most saw their role as essential to clinic functioning and viewed health care as a personal calling. MAs identified common strategies to improve efficiency and described the MA role to orchestrate the flow of the clinic day. Staff recognized differing priorities of patients, staff, and physicians and articulated frustrations with hierarchy and competing priorities as well as behaviors that impeded clinic efficiency. Respondents emphasized the importance of feeling valued by others on their team.

Conclusions: With the evolving demands made on MAs’ time, it is critical to understand how the most effective staff members manage their role and highlight the strategies they employ to provide efficient clinical care. Understanding factors that increase or decrease MA job satisfaction can help identify high-efficiency practices and promote a clinic culture that values and supports all staff.

As primary care continues to evolve into more team-based practice, the role of the medical assistant (MA) has rapidly transformed.¹ Staff may assist with patient management, documentation in the electronic medical record, order entry, pre-visit planning, and fulfillment of quality metrics, particularly in a Primary Care Medical Home (PCMH).² From 2012 through 2014, MA job postings per graduate increased from 1.3 to 2.3, suggesting twice as many job postings as graduates.³ As the demand for experienced MAs increases, the ability to recruit and retain high-performing staff members will be critical.

MAs are referenced in medical literature as early as the 1800s.⁴ The American Association of Medical Assistants was founded in 1956, which led to educational standardization and certifications.⁵ Despite the important role that MAs have long played in the proper functioning of a medical clinic—and the knowledge that team configurations impact a clinic’s efficiency and quality^6,7—few investigations have sought out the MA’s perspective.^8,9 Given the increasing clinical demands placed on all members of the primary care team (and the burnout that often results), it seems that MA insights into clinic efficiency could be valuable.

METHODS

This cross-sectional study was conducted from February to April 2019 at a large academic institution with 6 regional ambulatory care family medicine clinics, each one with 11,000 to 18,000 patient visits annually. Faculty work at all 6 clinics and residents at 2 of them. All MAs are hired, paid, and managed by a central administrative department rather than by the family medicine department. The family medicine clinics are currently PCMH certified, with a mix of fee-for-service and capitated reimbursement.

Continue to: We developed and piloted...

We developed and piloted a voluntary, anonymous 39-question (29 closed-ended and 10 brief open-ended) online Qualtrics survey, which we distributed via an email link to all the MAs in the department. The survey included clinic site, years as an MA, perceptions of the clinic environment, perception of teamwork at their site, identification of efficient practices, and feedback for physicians to improve efficiency and flow. Most questions were Likert-style with 5 choices ranging from “strongly agree” to “strongly disagree” or short answer. Age and gender were omitted to protect confidentiality, as most MAs in the department are female. Participants could opt to enter in a drawing for three $25 gift cards. The survey was reviewed by the University of Michigan Institutional Review Board and deemed exempt.

Seventy-five percent of MAs reported preclinic huddles to plan for patient care were helpful, but only half said huddles took place “always” or “most of the time.”

We asked MAs to nominate peers in their clinic who were “especially efficient and do their jobs well—people that others can learn from.” The staff members who were nominated most frequently by their peers were invited to share additional perspectives via a 10- to 30-minute semi-structured interview with the first author. Interviews covered highly efficient practices, barriers and facilitators to efficient care, and physician behaviors that impaired efficiency. We interviewed a minimum of 2 MAs per clinic and increased the number of interviews through snowball sampling, as needed, to reach data saturation (eg, the point at which we were no longer hearing new content). MAs were assured that all comments would be anonymized. There was no monetary incentive for the interviews. The interviewer had previously met only 3 of the 18 MAs interviewed.

Analysis. Summary statistics were calculated for quantitative data. To compare subgroups (such as individual clinics), a chi-square test was used. In cases when there were small cell sizes (< 5 subjects), we used the Fisher’s Exact test. Qualitative data was collected with real-time typewritten notes during the interviews to capture ideas and verbatim quotes when possible. We also included open-ended comments shared on the Qualtrics survey. Data were organized by theme using a deductive coding approach. Both authors reviewed and discussed observations, and coding was conducted by the first author. Reporting followed the STROBE Statement checklist for cross-sectional studies.¹⁰ Results were shared with MAs, supervisory staff, and physicians, which allowed for feedback and comments and served as “member-checking.” MAs reported that the data reflected their lived experiences.

RESULTS

Surveys were distributed to all 86 MAs working in family medicine clinics. A total of 75 (87%) responded to at least some questions (typically just demographics). We used those who completed the full survey (n = 61; 71%) for data analysis. Eighteen MAs participated in face-to-face interviews. Among respondents, 35 (47%) had worked at least 10 years as an MA and 21 (28%) had worked at least a decade in the family medicine department.

Perception of role

All respondents (n = 61; 100%) somewhat or strongly agreed that the MA role was “very important to keep the clinic functioning” and 58 (95%) reported that working in health care was “a calling” for them. Only 7 (11%) agreed that family medicine was an easier environment for MAs compared to a specialty clinic; 30 (49%) disagreed with this. Among respondents, 32 (53%) strongly or somewhat agreed that their work was very stressful and just half (n = 28; 46%) agreed there were adequate MA staff at their clinic.

Continue to: Efficiency and competing priorities

Efficiency and competing priorities

MAs described important work values that increased their efficiency. These included clinic culture (good communication and strong teamwork), as well as individual strategies such as multitasking, limiting patient conversations, and doing tasks in a consistent way to improve accuracy. (See TABLE 1.) They identified ways physicians bolster or hurt efficiency and ways in which the relationship between the physician and the MA shapes the MA’s perception of their value in clinic.

When asked about “pet peeves,” a few MAs advised that physicians should not “talk down” to staff and should try to teach rather than criticize.

Communication was emphasized as critical for efficient care, and MAs encouraged the use of preclinic huddles and communication as priorities. Seventy-five percent of MAs reported preclinic huddles to plan for patient care were helpful, but only half said huddles took place “always” or “most of the time.” Many described reviewing the schedule and completing tasks ahead of patient arrival as critical to efficiency.

Participants described the tension between their identified role of orchestrating clinic flow and responding to directives by others that disrupted the flow. Several MAs found it challenging when physicians agreed to see very late patients and felt frustrated when decisions that changed the flow were made by the physician or front desk staff without including the MA. MAs were also able to articulate how they managed competing priorities within the clinic, such as when a patient- or physician-driven need to extend appointments was at odds with maintaining a timely schedule. They were eager to share personal tips for time management and prided themselves on careful and accurate performance and skills they had learned on the job. MAs also described how efficiency could be adversely affected by the behaviors or attitudes of physicians. (See TABLE 2.)

Clinic environment

Thirty-six MAs (59%) reported that other MAs on their team were willing to help them out in clinic “a great deal” or “a lot” of the time, by helping to room a patient, acting as a chaperone for an exam, or doing a point-of-care lab. This sense of support varied across clinics (38% to 91% reported good support), suggesting that cultures vary by site. Some MAs expressed frustration at peers they saw as resistant to helping, exemplified by this verbatim quote from an interview:

“ Some don’t want to help out. They may sigh. It’s how they react—you just know.” (Clinic #1, MA #2 interview)

Efficient MAs stressed the need for situational awareness to recognize when co-workers need help:

“ [Peers often] are not aware that another MA is drowning. There’s 5 people who could have done that, and here I am running around and nobody budged.” (Clinic #5, MA #2 interview)

Continue to: A minority of staff...

A minority of staff used the open-ended survey sections to describe clinic hierarchy. When asked about “pet peeves,” a few advised that physicians should not “talk down” to staff and should try to teach rather than criticize. Another asked that physicians not “bark orders” or have “low gratitude” for staff work. MAs found micromanaging stressful—particularly when the physician prompted the MA about patient arrivals:

“[I don’t like] when providers will make a comment about a patient arriving when you already know this information. You then rush to put [the] patient in [a] room, then [the] provider ends up making [the] patient wait an extensive amount of time. I’m perfectly capable of knowing when a patient arrives.” (Clinic #6, survey)

MAs did not like physicians “talking bad about us” or blaming the MA if the clinic is running behind.

Despite these concerns, most MAs reported feeling appreciated for the job they do. Only 10 (16%) reported that the people they work with rarely say “thank you,” and 2 (3%) stated they were not well supported by the physicians in clinic. Most (n = 38; 62%) strongly agreed or agreed that they felt part of the team and that their opinions matter. In the interviews, many expanded on this idea:

“I really feel like I’m valued, so I want to do everything I can to make [my doctor’s] day go better. If you want a good clinic, the best thing a doc can do is make the MA feel valued.” (Clinic #1, MA #1 interview)

DISCUSSION

Participants described their role much as an orchestra director, with MAs as the key to clinic flow and timeliness.⁹ Respondents articulated multiple common strategies used to increase their own efficiency and clinic flow; these may be considered best practices and incorporated as part of the basic training. Most MAs reported their day-to-day jobs were stressful and believed this was underrecognized, so efficiency strategies are critical. With staff completing multiple time-sensitive tasks during clinic, consistent co-worker support is crucial and may impact efficiency.⁸ Proper training of managers to provide that support and ensure equitable workloads may be one strategy to ensure that staff members feel the workplace is fair and collegial.

Several comments reflected the power differential within medical offices. One study reported that MAs and physicians “occupy roles at opposite ends of social and occupational hierarchies.”¹¹ It’s important for physicians to be cognizant of these patterns and clinic culture, as reducing a hierarchy-based environment will be appreciated by MAs.⁹ Prior research has found that MAs have higher perceptions of their own competence than do the physicians working with them.¹² If there is a fundamental lack of trust between the 2 groups, this will undoubtedly hinder team-building. Attention to this issue is key to a more favorable work environment.

Continue to: Almost all respondents...

Almost all respondents reported health care was a “calling,” which mirrors physician research that suggests seeing work as a “calling” is protective against burnout.^13,14 Open-ended comments indicated great pride in contributions, and most staff members felt appreciated by their teams. Many described the working relationships with physicians as critical to their satisfaction at work and indicated that strong partnerships motivated them to do their best to make the physician’s day easier. Staff job satisfaction is linked to improved quality of care, so treating staff well contributes to high-value care for patients.¹⁵ We also uncovered some MA “pet peeves” that hinder efficiency and could be shared with physicians to emphasize the importance of patience and civility.

One barrier to expansion of MA roles within PCMH practices is the limited pay and career ladder for MAs who adopt new job responsibilities that require advanced skills or training.^1,2 The mean MA salary at our institution ($37,372) is higher than in our state overall ($33,760), which may impact satisfaction.¹⁶ In addition, 93% of MAs are women; thus, they may continue to struggle more with lower pay than do workers in male-­dominated professions.^17,18 Expected job growth from 2018-2028 is predicted at 23%, which may help to boost salaries.¹⁹ Prior studies describe the lack of a job ladder or promotion opportunities as a challenge^1,20; this was not formally assessed in our study.

Prior research has found that MAs have higher perceptions of their own competence than do the physicians working with them.

MAs see work in family medicine as much harder than it is in other specialty clinics. Being trusted with more responsibility, greater autonomy,^21-23 and expanded patient care roles can boost MA self-efficacy, which can reduce burnout for both physicians and MAs.^8,24 However, new responsibilities should include appropriate training, support, and compensation, and match staff interests.⁷

Study limitations. The study was limited to 6 clinics in 1 department at a large academic medical center. Interviewed participants were selected by convenience and snowball sampling and thus, the results cannot be generalized to the population of MAs as a whole. As the initial interview goal was simply to gather efficiency tips, the project was not designed to be formal qualitative research. However, the discussions built on open-ended comments from the written survey helped contextualize our quantitative findings about efficiency. Notes were documented in real time by a single interviewer with rapid typing skills, which allowed capture of quotes verbatim. Subsequent studies would benefit from more formal qualitative research methods (recording and transcribing interviews, multiple coders to reduce risk of bias, and more complex thematic analysis).

Our research demonstrated how MAs perceive their roles in primary care and the facilitators and barriers to high efficiency in the workplace, which begins to fill an important knowledge gap in primary care. Disseminating practices that staff members themselves have identified as effective, and being attentive to how staff members are treated, may increase individual efficiency while improving staff retention and satisfaction.

CORRESPONDENCE
Katherine J. Gold, MD, MSW, MS, Department of Family Medicine and Department of Obstetrics and Gynecology, University of Michigan, 1018 Fuller Street, Ann Arbor, MI 48104-1213; [email protected]

ABSTRACT

Background: Medical assistant (MA) roles have expanded rapidly as primary care has evolved and MAs take on new patient care duties. Research that looks at the MA experience and factors that enhance or reduce efficiency among MAs is limited.

Methods: We surveyed all MAs working in 6 clinics run by a large academic family medicine department in Ann Arbor, Michigan. MAs deemed by peers as “most efficient” were selected for follow-up interviews. We evaluated personal strategies for efficiency, barriers to efficient care, impact of physician actions on efficiency, and satisfaction.

Results: A total of 75/86 MAs (87%) responded to at least some survey questions and 61/86 (71%) completed the full survey. We interviewed 18 MAs face to face. Most saw their role as essential to clinic functioning and viewed health care as a personal calling. MAs identified common strategies to improve efficiency and described the MA role to orchestrate the flow of the clinic day. Staff recognized differing priorities of patients, staff, and physicians and articulated frustrations with hierarchy and competing priorities as well as behaviors that impeded clinic efficiency. Respondents emphasized the importance of feeling valued by others on their team.

Conclusions: With the evolving demands made on MAs’ time, it is critical to understand how the most effective staff members manage their role and highlight the strategies they employ to provide efficient clinical care. Understanding factors that increase or decrease MA job satisfaction can help identify high-efficiency practices and promote a clinic culture that values and supports all staff.

As primary care continues to evolve into more team-based practice, the role of the medical assistant (MA) has rapidly transformed.¹ Staff may assist with patient management, documentation in the electronic medical record, order entry, pre-visit planning, and fulfillment of quality metrics, particularly in a Primary Care Medical Home (PCMH).² From 2012 through 2014, MA job postings per graduate increased from 1.3 to 2.3, suggesting twice as many job postings as graduates.³ As the demand for experienced MAs increases, the ability to recruit and retain high-performing staff members will be critical.

MAs are referenced in medical literature as early as the 1800s.⁴ The American Association of Medical Assistants was founded in 1956, which led to educational standardization and certifications.⁵ Despite the important role that MAs have long played in the proper functioning of a medical clinic—and the knowledge that team configurations impact a clinic’s efficiency and quality^6,7—few investigations have sought out the MA’s perspective.^8,9 Given the increasing clinical demands placed on all members of the primary care team (and the burnout that often results), it seems that MA insights into clinic efficiency could be valuable.

METHODS

This cross-sectional study was conducted from February to April 2019 at a large academic institution with 6 regional ambulatory care family medicine clinics, each one with 11,000 to 18,000 patient visits annually. Faculty work at all 6 clinics and residents at 2 of them. All MAs are hired, paid, and managed by a central administrative department rather than by the family medicine department. The family medicine clinics are currently PCMH certified, with a mix of fee-for-service and capitated reimbursement.

Continue to: We developed and piloted...

We developed and piloted a voluntary, anonymous 39-question (29 closed-ended and 10 brief open-ended) online Qualtrics survey, which we distributed via an email link to all the MAs in the department. The survey included clinic site, years as an MA, perceptions of the clinic environment, perception of teamwork at their site, identification of efficient practices, and feedback for physicians to improve efficiency and flow. Most questions were Likert-style with 5 choices ranging from “strongly agree” to “strongly disagree” or short answer. Age and gender were omitted to protect confidentiality, as most MAs in the department are female. Participants could opt to enter in a drawing for three $25 gift cards. The survey was reviewed by the University of Michigan Institutional Review Board and deemed exempt.

Seventy-five percent of MAs reported preclinic huddles to plan for patient care were helpful, but only half said huddles took place “always” or “most of the time.”

We asked MAs to nominate peers in their clinic who were “especially efficient and do their jobs well—people that others can learn from.” The staff members who were nominated most frequently by their peers were invited to share additional perspectives via a 10- to 30-minute semi-structured interview with the first author. Interviews covered highly efficient practices, barriers and facilitators to efficient care, and physician behaviors that impaired efficiency. We interviewed a minimum of 2 MAs per clinic and increased the number of interviews through snowball sampling, as needed, to reach data saturation (eg, the point at which we were no longer hearing new content). MAs were assured that all comments would be anonymized. There was no monetary incentive for the interviews. The interviewer had previously met only 3 of the 18 MAs interviewed.

Analysis. Summary statistics were calculated for quantitative data. To compare subgroups (such as individual clinics), a chi-square test was used. In cases when there were small cell sizes (< 5 subjects), we used the Fisher’s Exact test. Qualitative data was collected with real-time typewritten notes during the interviews to capture ideas and verbatim quotes when possible. We also included open-ended comments shared on the Qualtrics survey. Data were organized by theme using a deductive coding approach. Both authors reviewed and discussed observations, and coding was conducted by the first author. Reporting followed the STROBE Statement checklist for cross-sectional studies.¹⁰ Results were shared with MAs, supervisory staff, and physicians, which allowed for feedback and comments and served as “member-checking.” MAs reported that the data reflected their lived experiences.

RESULTS

Surveys were distributed to all 86 MAs working in family medicine clinics. A total of 75 (87%) responded to at least some questions (typically just demographics). We used those who completed the full survey (n = 61; 71%) for data analysis. Eighteen MAs participated in face-to-face interviews. Among respondents, 35 (47%) had worked at least 10 years as an MA and 21 (28%) had worked at least a decade in the family medicine department.

Perception of role

All respondents (n = 61; 100%) somewhat or strongly agreed that the MA role was “very important to keep the clinic functioning” and 58 (95%) reported that working in health care was “a calling” for them. Only 7 (11%) agreed that family medicine was an easier environment for MAs compared to a specialty clinic; 30 (49%) disagreed with this. Among respondents, 32 (53%) strongly or somewhat agreed that their work was very stressful and just half (n = 28; 46%) agreed there were adequate MA staff at their clinic.

Continue to: Efficiency and competing priorities

Efficiency and competing priorities

MAs described important work values that increased their efficiency. These included clinic culture (good communication and strong teamwork), as well as individual strategies such as multitasking, limiting patient conversations, and doing tasks in a consistent way to improve accuracy. (See TABLE 1.) They identified ways physicians bolster or hurt efficiency and ways in which the relationship between the physician and the MA shapes the MA’s perception of their value in clinic.

When asked about “pet peeves,” a few MAs advised that physicians should not “talk down” to staff and should try to teach rather than criticize.

Communication was emphasized as critical for efficient care, and MAs encouraged the use of preclinic huddles and communication as priorities. Seventy-five percent of MAs reported preclinic huddles to plan for patient care were helpful, but only half said huddles took place “always” or “most of the time.” Many described reviewing the schedule and completing tasks ahead of patient arrival as critical to efficiency.

Participants described the tension between their identified role of orchestrating clinic flow and responding to directives by others that disrupted the flow. Several MAs found it challenging when physicians agreed to see very late patients and felt frustrated when decisions that changed the flow were made by the physician or front desk staff without including the MA. MAs were also able to articulate how they managed competing priorities within the clinic, such as when a patient- or physician-driven need to extend appointments was at odds with maintaining a timely schedule. They were eager to share personal tips for time management and prided themselves on careful and accurate performance and skills they had learned on the job. MAs also described how efficiency could be adversely affected by the behaviors or attitudes of physicians. (See TABLE 2.)

Clinic environment

Thirty-six MAs (59%) reported that other MAs on their team were willing to help them out in clinic “a great deal” or “a lot” of the time, by helping to room a patient, acting as a chaperone for an exam, or doing a point-of-care lab. This sense of support varied across clinics (38% to 91% reported good support), suggesting that cultures vary by site. Some MAs expressed frustration at peers they saw as resistant to helping, exemplified by this verbatim quote from an interview:

“ Some don’t want to help out. They may sigh. It’s how they react—you just know.” (Clinic #1, MA #2 interview)

Efficient MAs stressed the need for situational awareness to recognize when co-workers need help:

“ [Peers often] are not aware that another MA is drowning. There’s 5 people who could have done that, and here I am running around and nobody budged.” (Clinic #5, MA #2 interview)

Continue to: A minority of staff...

A minority of staff used the open-ended survey sections to describe clinic hierarchy. When asked about “pet peeves,” a few advised that physicians should not “talk down” to staff and should try to teach rather than criticize. Another asked that physicians not “bark orders” or have “low gratitude” for staff work. MAs found micromanaging stressful—particularly when the physician prompted the MA about patient arrivals:

“[I don’t like] when providers will make a comment about a patient arriving when you already know this information. You then rush to put [the] patient in [a] room, then [the] provider ends up making [the] patient wait an extensive amount of time. I’m perfectly capable of knowing when a patient arrives.” (Clinic #6, survey)

MAs did not like physicians “talking bad about us” or blaming the MA if the clinic is running behind.

Despite these concerns, most MAs reported feeling appreciated for the job they do. Only 10 (16%) reported that the people they work with rarely say “thank you,” and 2 (3%) stated they were not well supported by the physicians in clinic. Most (n = 38; 62%) strongly agreed or agreed that they felt part of the team and that their opinions matter. In the interviews, many expanded on this idea:

“I really feel like I’m valued, so I want to do everything I can to make [my doctor’s] day go better. If you want a good clinic, the best thing a doc can do is make the MA feel valued.” (Clinic #1, MA #1 interview)

DISCUSSION

Participants described their role much as an orchestra director, with MAs as the key to clinic flow and timeliness.⁹ Respondents articulated multiple common strategies used to increase their own efficiency and clinic flow; these may be considered best practices and incorporated as part of the basic training. Most MAs reported their day-to-day jobs were stressful and believed this was underrecognized, so efficiency strategies are critical. With staff completing multiple time-sensitive tasks during clinic, consistent co-worker support is crucial and may impact efficiency.⁸ Proper training of managers to provide that support and ensure equitable workloads may be one strategy to ensure that staff members feel the workplace is fair and collegial.

Several comments reflected the power differential within medical offices. One study reported that MAs and physicians “occupy roles at opposite ends of social and occupational hierarchies.”¹¹ It’s important for physicians to be cognizant of these patterns and clinic culture, as reducing a hierarchy-based environment will be appreciated by MAs.⁹ Prior research has found that MAs have higher perceptions of their own competence than do the physicians working with them.¹² If there is a fundamental lack of trust between the 2 groups, this will undoubtedly hinder team-building. Attention to this issue is key to a more favorable work environment.

Continue to: Almost all respondents...

Almost all respondents reported health care was a “calling,” which mirrors physician research that suggests seeing work as a “calling” is protective against burnout.^13,14 Open-ended comments indicated great pride in contributions, and most staff members felt appreciated by their teams. Many described the working relationships with physicians as critical to their satisfaction at work and indicated that strong partnerships motivated them to do their best to make the physician’s day easier. Staff job satisfaction is linked to improved quality of care, so treating staff well contributes to high-value care for patients.¹⁵ We also uncovered some MA “pet peeves” that hinder efficiency and could be shared with physicians to emphasize the importance of patience and civility.

One barrier to expansion of MA roles within PCMH practices is the limited pay and career ladder for MAs who adopt new job responsibilities that require advanced skills or training.^1,2 The mean MA salary at our institution ($37,372) is higher than in our state overall ($33,760), which may impact satisfaction.¹⁶ In addition, 93% of MAs are women; thus, they may continue to struggle more with lower pay than do workers in male-­dominated professions.^17,18 Expected job growth from 2018-2028 is predicted at 23%, which may help to boost salaries.¹⁹ Prior studies describe the lack of a job ladder or promotion opportunities as a challenge^1,20; this was not formally assessed in our study.

Prior research has found that MAs have higher perceptions of their own competence than do the physicians working with them.

MAs see work in family medicine as much harder than it is in other specialty clinics. Being trusted with more responsibility, greater autonomy,^21-23 and expanded patient care roles can boost MA self-efficacy, which can reduce burnout for both physicians and MAs.^8,24 However, new responsibilities should include appropriate training, support, and compensation, and match staff interests.⁷

Study limitations. The study was limited to 6 clinics in 1 department at a large academic medical center. Interviewed participants were selected by convenience and snowball sampling and thus, the results cannot be generalized to the population of MAs as a whole. As the initial interview goal was simply to gather efficiency tips, the project was not designed to be formal qualitative research. However, the discussions built on open-ended comments from the written survey helped contextualize our quantitative findings about efficiency. Notes were documented in real time by a single interviewer with rapid typing skills, which allowed capture of quotes verbatim. Subsequent studies would benefit from more formal qualitative research methods (recording and transcribing interviews, multiple coders to reduce risk of bias, and more complex thematic analysis).

Our research demonstrated how MAs perceive their roles in primary care and the facilitators and barriers to high efficiency in the workplace, which begins to fill an important knowledge gap in primary care. Disseminating practices that staff members themselves have identified as effective, and being attentive to how staff members are treated, may increase individual efficiency while improving staff retention and satisfaction.

CORRESPONDENCE
Katherine J. Gold, MD, MSW, MS, Department of Family Medicine and Department of Obstetrics and Gynecology, University of Michigan, 1018 Fuller Street, Ann Arbor, MI 48104-1213; [email protected]

Medical errors in all settings contributed to as many as 250,000 deaths per year in the United States between 2000 and 2008, according to a 2016 study.¹ Diagnostic error, in particular, remains a leading cause of morbidity and mortality in the United States and worldwide. In 2017, 12 million patients (roughly 5% of all US adults) who sought outpatient care experienced missed, delayed, or incorrect diagnosis at least once.²

In his classic work, How Doctors Think, Jerome Groopman, MD, explored the diagnostic process with a focus on the role of cognitive bias in clinical decision-making. Groopman examined how physicians can become sidetracked in their thinking and “blinded” to potential alternative diagnoses.³ Medical error is not necessarily because of a deficiency in medical knowledge; rather, physicians become susceptible to medical error when defective and faulty reasoning distort their diagnostic ability.⁴

Cognitive bias in the diagnostic process has been extensively studied, and a full review is beyond the scope of this article.⁵ However, here we will examine pathways leading to diagnostic errors in the primary care setting, specifically the role of cognitive bias in the work-up of polymyalgia rheumatica (PMR), ovarian cancer (OC), Lewy body dementia (LBD), and fibromyalgia (FM). As these 4 disease states are seen with low-to-moderate frequency in primary care, cognitive bias can complicate accurate diagnosis. But first, a word about how to understand clinical reasoning.

There are 2 types of reasoning (and 1 is more prone to error)

Physician clinical reasoning can be divided into 2 different cognitive approaches.

Type 1 reasoning employs intuition and heuristics; this type is automatic, reflexive, and quick.⁵ While the use of mental shortcuts in type 1 increases the speed with which decisions are made, it also makes this form of reasoning more prone to error.

Type 2 reasoning requires conscious effort. It is goal directed and rigorous and therefore slower than type 1 reasoning. Extrapolated to the clinical context, clinicians transition from type 2 to type 1 reasoning as they gain experience and training throughout their careers and develop their own conscious and subconscious heuristics. Deviations from accurate decision-making occur in a systematic manner due to cognitive biases and result in medical error.⁶table 1⁷ lists common types of cognitive bias.

An important question to ask. Physicians tend to fall into a pattern of quick, type 1 reasoning. However, it’s important to strive to maintain a broad differential diagnosis and avoid premature closure of the diagnostic process. It’s critical that we consider alternative diagnoses (ie, consciously move from type 1 to type 2 thinking) and continue to ask ourselves, “What else?” while working through differential diagnoses. This can be a powerful debiasing technique.

Continue to: The discussion...

The discussion of the following 4 disease states demonstrates how cognitive bias can lead to diagnostic error.

Case 1

An 82-year-old woman with a history of hypertension; wide-angle glaucoma; stage 2 chronic kidney disease; osteopenia; severe osteoarthritis (OA) affecting the hips, shoulders, and knees; insomnia; and depression is transferred to a new family medicine practice for evaluation. She has been taking nonsteroidal anti-­inflammatory drugs (NSAIDs) for chronic pain secondary to OA for 6 months, with no improvement in symptoms.

The patient is barely able to ambulate and appears to be in considerable pain. She is relying heavily on her walker and is assisted by her granddaughter. The primary care physician (PCP) obtains a detailed history that includes chronic shoulder and hip pain. Given that the patient has not responded to NSAID treatment over the previous 6 months, the PCP takes a moment to reconsider the diagnosis of OA and considers other options.

It’s critical that we consider alternative diagnoses and continue to ask ourselves, “What else?” while working through differential diagnoses.

In light of the high prevalence of PMR in older women, the physician pursues a more specific physical examination tailored to ferret out PMR. He had learned this diagnostic shortcut as a resident, remembered it, and adeptly applied it whenever circumstances warranted. He asks the patient to raise her arms above her head (goalpost sign). She is unable to perform this task and experiences severe bilateral shoulder pain on trial. The PCP then places the patient on the examining table and attempts to assist her in rolling toward him. The patient is also unable to perform this maneuver and experiences significant bilateral hip pain on trial.

Based primarily on the patient’s history and physical exam findings, the PCP makes a presumptive diagnosis of PMR vs OA vs combined PMR with OA, orders an erythrocyte sedimentation rate (ESR) and basic rheumatologic marker panel, and starts the patient on prednisone 10 mg/d. Lab work comes back and reveals mildly elevated ESR with all other findings within normal limits. Two weeks later, the patient returns for her follow-up visit, walking without a walker for the first time in years.

PMR can be mistaken for OA

PMR is the most common inflammatory rheumatic disease in older patients.⁸ It is a debilitating illness with simple, effective treatment but has devastating consequences if missed or left untreated.⁹ PMR typically manifests in patients older than age 50, with a peak incidence at 80 years of age. It is also far more common in women.¹⁰

Approximately 80% of patients with PMR initially present to their PCP, often posing a diagnostic challenge to many clinicians.¹¹ Due to overlap in symptoms, the condition is often misdiagnosed as OA, a more common condition seen by PCPs. Also, there are no specific diagnostic tests for PMR. An elevated ESR can help confirm the diagnosis, but one-third of patients with PMR have a normal ESR.¹² Therefore, the diagnostic conundrum the physician faces is OA vs rheumatoid arthritis (RA), PMR, or another condition.

Continue to: The consequences...

The consequences of a missed and delayed PMR diagnosis range from seriously impaired quality of life to significantly increased risk of vascular events (eg, blindness, stroke) due to temporal arteritis.¹³ Early diagnosis is even more critical as the risk of a vascular event and death is highest during initial phases of the disease course.¹⁴

FPs often miss this Dx. A timely diagnosis relies almost exclusively on an accurate, thorough history and physical exam. However, PCPs often struggle to correctly diagnose PMR. According to a study by Bahlas and colleagues,¹⁵ the accuracy rate for correctly diagnosing PMR was 24% among a cohort of family physicians.

The differential diagnosis for PMR is broad and includes seronegative spondyloarthropathies, malignancy, Lyme disease, hypothyroidism, and both RA and OA.¹⁶ 

PCPs are extremely adept at correctly diagnosing RA, but not PMR. A study by Blaauw and colleagues¹⁷ comparing PCPs and rheumatologists found PCPs correctly identified 92% of RA cases but only 55% of PMR cases. When rheumatologists reviewed these same cases, they correctly identified PMR and RA almost 100% of the time.¹⁷ The difference in diagnostic accuracy between rheumatologists and PCPs suggests limited experience and gaps in fund of knowledge. 

Making the diagnosis. The diagnosis of PMR is often made on empiric response to corticosteroid treatment, but doing so based solely on a patient’s response is controversial.¹⁸ There are rare instances in which patients with PMR fail to respond to treatment. On the other hand, some inflammatory conditions that mimic or share symptoms with PMR also respond to corticosteroids, potentially resulting in erroneous confirmation bias.

Some classification criteria use rapid response to low-dose prednisone/­prednisolone (≤ 20 mg) to confirm the diagnosis,¹⁹ while other more recent guidelines no longer include this approach.²⁰ If PMR continues to be suspected after a trial of steroids is unsuccessful, the PCP can try another course of higher dose steroids or consult with Rheumatology.

Case 2 

A woman in her mid-40s presented to a PCP’s office with a chief complaint of dyspepsia and bloating.^a The patient was attending a meeting in New York City, and this was her first visit to this physician. The patient previously had been treated for these symptoms by her hometown PCP and gastroenterologist.

Continue to: A full history...

A full history and physical exam revealed a myriad of gastrointestinal (GI) complaints, such as diarrhea. But the PCP recalled a recent roundtable discussion on debiasing techniques specifically related to gynecologic disorders, including OC. Therefore, he decided to include OC in the differential diagnosis—something he would not routinely have done given the preponderance of GI symptoms. Despite the patient’s reluctance and time constraints, the PCP ordered a transvaginal ultrasound. Findings from the ultrasound study revealed stage II OC, which carries a good prognosis. The patient is currently undergoing treatment and was last reported as doing well.

Early signs of ovarian cancer can be chalked up to a “GI issue”

OC is the second most common gynecologic cancer²¹ and the fifth leading cause of cancer-related death²² in US women. Compared to other cancers, the prognosis for localized ­early-stage OC is surprisingly good, with a 5-year survival rate approaching 93%.²³ However, most disease is detected in later stages, and the 5-year survival rate drops to a low of 29%.²⁴

There remains no established screening protocol for OC. Fewer than a quarter of all cases are diagnosed in stage I, and detection of OC relies heavily on the physician’s ability to decipher vague symptomatology that overlaps with other, more common maladies. This poses an obvious diagnostic challenge and, not surprisingly, a high level of susceptibility to cognitive bias. 

Most PCPs correctly identified bloating as a key symptom of ovarian cancer; however, they weren’t as good at identifying less common symptoms, such as inability to finish a meal.

More than 90% of patients with OC present with some combination of the following symptoms prior to diagnosis: abdominal (77%), GI (70%), pain (58%), constitutional (50%), urinary (34%), and pelvic (26%).²⁵ The 3 most common isolated symptoms in patients with OC are abdominal bloating, decrease in appetite, and frank abdominal pain.²⁶ Patients with biopsy-confirmed OC experience these symptoms an average of 6 months prior to actual diagnosis.²⁷

Knowledge gaps play a role. Studies assessing the ability of health care providers to identify presenting symptoms of OC reveal specific knowledge gaps. For instance, in a survey by Gajjar and colleagues,²⁸ most PCPs correctly identified bloating as a key symptom of OC; however, they weren’t as good at identifying less common symptoms, such as inability to finish a meal and early satiety. Moreover, survey participants misinterpreted or missed GI symptoms as an important manifestation of early OC disease.²⁸ These specific knowledge gaps combine with physician errors in thinking, further obscuring and extending the diagnostic process. The point prevalence for OC is relatively low, and many PCPs only encounter a few cases during their entire career.²⁹ This low pre-test probability may also fuel the delay in diagnosis.

Watch for these forms of bias. Since nonspecific symptoms of early-stage OC resemble those of other more benign conditions, a form of anchoring error known as multiple alternatives bias can arise. In this scenario, clinicians investigate only 1 potential plausible diagnosis and remain focused on that single, often faulty, conclusion. This persists despite other equally plausible alternatives that arise as the investigation proceeds.²⁸

Affective error may also play a role in missed or delayed diagnosis. For example, a physician would prefer to diagnose and treat a common GI illness than consider OC. Another distortion involves outcome bias wherein the physician gives more significance to benign conditions such as irritable bowel syndrome because they have a more favorable outcome and clear treatment path. Physicians also favor these benign conditions because they encounter them more frequently than OC in the clinic setting. (This is known as availability bias.) Outcome bias and multiple alternatives bias can result in noninvestigation of symptoms and inefficient or improper management, leading to a delay in arriving at the correct diagnosis or anchoring on a plausible but incorrect diagnosis.

Continue to: An incorrect initial diagnostic...

An incorrect initial diagnostic path often triggers a cascade of subsequent errors. The physician orders additional unhelpful and expensive tests in an effort to characterize the suspected GI pathology. This then leads the physician to prematurely terminate the work-up and accept the most favored diagnosis. Lastly, sunk-cost fallacy comes into play: The physician has “invested” time and energy investigating a particular diagnosis and rather than abandon the presumed diagnosis, continues to put more time and effort in going down an incorrect diagnostic path. 

A series of failures. These biases and miscues have been observed in several studies. For example, a survey of 1725 women by Goff and colleagues³⁰ sought to identify factors related to delayed OC diagnosis. The authors found that the following factors were significantly associated with a delayed diagnosis: omission of a pelvic exam at initial presentation, a separate exploration of a multitude of collateral symptoms, a failure to order ultrasound/computed tomography/CA-125 test, and a failure to consider age as a factor (especially if the patient was outside the norm). 

Responses from the survey also revealed that physicians initially ordered work-ups related to GI etiology and only later considered a pelvic work-up. This suggests that well-known presenting signs and symptoms or a constellation of typical and atypical symptoms of OC often failed to trigger physician recognition. Understandably, patients presenting with menorrhagia or gynecologic complaints are more likely to have OC detected at an earlier stage than patients who present with GI or abdominal signs alone.³¹ table 2⁷ summarizes some of the cognitive biases seen in the diagnostic path of OC.

Case 3

A 56-year-old man is brought to the ED by his wife and children for evaluation of odd behavior and episodes of confusion. The patient recently had a negative neurologic work-up for transient ischemic attack and cerebrovascular accident and is admitted for further work-up. He reports visual hallucinations to nursing staff. Screening for memory problems shows no significant deficits. The patient in fact scored a 27 on the Mini–Mental State Examination, well within the normal range. The family notes that the patient has had difficulty with planning over the previous year and has not seemed like his “old self.” The patient has no history of psychosis, schizophrenia, bipolar disorder, or any other psychiatric illness.

While in the hospital, he becomes acutely upset by the hallucinations and is given haloperidol and lorazepam by house staff. In the morning, the patient exhibits severe signs of Parkinson disease that include rigidity and masked facies.

Given the patient’s poor response to haloperidol and continued confusion, the team consulted Neurology and Psychiatry. Gathering a more detailed history from the patient and family, the patient is given a diagnosis of classic LBD. The antipsychotic medications are stopped. The patient and his family receive education about LBD treatment and management, and the patient is discharged to outpatient care.

Psychiatric symptoms can be an early “misdirect” in cases of Lewy body disease

LBD, the second leading neurodegenerative dementia after Alzheimer disease (AD), affects 1.5 million Americans,³² representing about 10% of all dementia cases. LBD and AD overlap in 25% of dementia cases.³³ In patients older than 85 years, the prevalence jumps to 5% of the general population and 22% of all cases of dementia.³³ Despite its prevalence, a recent study showed that only 6% of PCPs correctly identified LBD as the primary diagnosis when presented with typical case examples.³² 

Continue to: 3 stages of presentation

3 stages of presentation. Unlike other forms of dementia, LBD typically presents first with psychiatric symptoms, then with cognitive impairment, and last with parkinsonian symptoms. Additionally, rapid eye movement sleep behavior disorder and often subtle elements of nonmemory cognitive impairment distinguish LBD from both AD and vascular dementia.³² The primary cognitive deficit in LBD is not in memory but in attention, executive functioning, and visuospatial ability.³⁴ Only in the later stages of the disease do patients exhibit gradual and progressive memory loss. 

Mistaken for many things. When evaluating patients exhibiting signs of dementia, it’s important to include LBD in the differential, with increased suspicion for patients experiencing episodes of psychosis or delirium. The uniqueness of LBD lies in its psychotic symptomatology, particularly during earlier stages of the disease. This feature helps distinguish LBD from both AD and vascular dementia. As seen in the case, LBD can also be confused with acute delirium.

The uniqueness of Lewy body dementia lies in its psychotic symptomatology, particularly during earlier stages of the disease.

Older adult patients presenting to the ED or clinic with visual hallucinations, delirium, and mental confusion may receive a false diagnosis of schizophrenia, medication- or substance-induced psychosis, Parkinson disease, or delirium of unknown etiology.³⁵ Unfortunately, LBD is often overlooked and not considered in the differential diagnosis. Due to underrecognition, patients may receive treatment with typical antipsychotics. The addition of a neuroleptic to help control the psychotic symptoms causes patients with LBD to develop severe extrapyramidal symptoms and worsening mental status,³⁶ leading to severe parkinsonian signs, which further muddies the diagnostic process. In addition, treatment for suspected Parkinson disease, including carbidopa-levodopa, has no benefit for patients with LBD and may increase psychotic symptoms.³⁷

First-line treatment for LBD includes psychoeducation for the patient and family, cholinesterase inhibitors (eg, rivastigmine), and avoidance of high-potency antipsychotics, such as haloperidol. Although persistent hallucinations and psychosis remain difficult to treat in LBD, low-dose quetiapine is 1 option. Incorrectly diagnosing and prescribing treatment for another condition exacerbates symptoms in this patient population.

Case 4

A 36-year-old Hispanic woman presents to the PCP for her annual physical exam. The patient’s medical record shows 2 previous office visits over the past 2 years—an annual physical exam and an office visit for the flu vaccine. The patient is highly accomplished in her profession, working as a certified public accountant for a major corporation. She is a nonsmoker and reports only casual social drinking and no recreational drug use. The patient is slightly overweight for her height but is otherwise healthy. Previous lab studies are within normal limits.

The patient has been experiencing chronic pain for the past few years after a motor vehicle accident. She has seen a physiatrist and another provider, both of whom found no “objective” causes of her chronic pain. They started the patient on sertraline for depression and an analgesic, both of which were ineffective.

The patient likes to exercise at a gym twice a week by doing light cardio (treadmill) exercise and light weightlifting. Lately, however, she has been unable to exercise due to the pain. At this visit, she mentions having low energy, poor sleep, frequent fatigue, and generalized soreness and pain in multiple areas of her body. The PCP recognizes the patient’s presenting symptoms as significant for FM and starts her on pregabalin and hydrotherapy, with positive results.

Continue to: Fibromyalgia skepticism may lead to a Dx of depression

FM, the second most common disorder seen in rheumatologic practice after OA, is estimated to affect approximately 1 in 20 patients (approximately 5 million Americans) in the primary care setting.^38,39 The condition has a high female-to-male preponderance (3.4% vs 0.5%).⁴⁰ While the primary symptom of FM is chronic pain, patients commonly present with fatigue and sleep disturbance.⁴¹ Comorbid conditions include headaches, irritable bowel syndrome, and mood disturbances (most commonly anxiety and depression). 

Patients with fibromyalgia, who are often otherwise healthy, often present multiple times to the same PCP with a chief complaint of chronic pain.

Several studies have explored reasons for the misdiagnosis and underdiagnosis of FM. One important factor is ongoing skepticism among some physicians and the public, in general, as to whether FM is a real disease. This issue was addressed by a study by White and colleagues,⁴² who estimated and compared the point prevalence of FM and related disorders in Amish vs non-Amish adults. The authors hypothesized that if litigation and/or compensation availability have a major impact on FM prevalence, then there would be a near zero prevalence of FM in the Amish community. And yet, researchers found an overall age- and sex-adjusted FM prevalence of 7.3% (95% CI; 5.3%-9.7%); this was both statistically greater than zero (P < .0001) and greater than 2 control populations of non-Amish adults (both P < .05).

Many physicians consider FM fundamentally an emotional disturbance, and the high preponderance of FM in female patients may contribute to this misconception as reports of pain and emotional distress by women are often dismissed as hysteria.⁴³ Physicians often explore the emotional aspects of FM, incorrectly diagnosing patients with depression and subsequently treating them with a psychotropic drug.³⁹ Alternatively, they may focus on the musculoskeletal presentations of FM and prescribe analgesics or physical therapy, both of which do little to alleviate FM. 

To make the correct diagnosis of FM, the American College of Rheumatology created a specific set of criteria in 1990, which was updated in 2010.⁴⁴ For a diagnosis of FM, a patient must have at least a 3-month history of bilateral pain above and below the waist and along the axial skeletal spine. Although not included in the updated 2010 criteria, many clinicians continue to check for tender points, following the 1990 criteria requiring the presence of 11 of 18 points to make the diagnosis.

At least 3 cognitive biases relating to FM apply: anchoring, availability, and fundamental attribution error (see table 3).⁷ Anchoring occurs when the PCP settles on a psychiatric diagnosis of exaggerated pain syndrome, muscle overuse, or OA and fails to explore alternative etiology. Availability bias may obscure the true diagnosis of FM. Since PCPs see many patients with RA or OA, they may overlook or dismiss the possibility of FM. Attribution error happens when physicians dismiss the complaints of patients with FM as merely due to psychological distress, hysteria, or acting out.⁴³

Patients with FM, who are often otherwise healthy, often present multiple times to the same PCP with a chief complaint of chronic pain. These repeat presentations can result in compassion fatigue and impact care. As Aloush and colleagues⁴⁰ noted in their study, “FM patients were perceived as more difficult than RA patients, with a high level of concern and emotional response. A high proportion of physicians were reluctant to accept them because they feel emotional/psychological difficulties meeting and coping with these patients.”In response, patients with undiagnosed FM or inadequately treated FM may visit other PCPs, which may or may not result in a correct diagnosis and treatment.

We can do better

Primary care physicians face the daunting task of diagnosing and treating a wide range of common conditions while also trying to recognize less-common conditions with atypical presentations—all during a busy clinic workday. Nonetheless, we should strive to overcome internal (eg, cognitive bias and fund-of-knowledge deficits) and external (eg, time constraints, limited resources) pressures to improve diagnostic accuracy and care.

Each of the 4 disease states we’ve discussed have high rates of missed and/or delayed diagnosis. Each presents a unique set of confounders: PMR with its overlapping symptoms of many other rheumatologic diseases; OC with its often vague and misleading GI symptomatology; LBD with overlapping features of AD and Parkinson disease; and FM with skepticism. As gatekeepers to health care, it falls on PCPs to sort out these diagnostic dilemmas to avoid medical errors. Fundamental knowledge of each disease, its unique pathophysiology and symptoms, and varying presentations can be learned, internalized, and subsequently put into clinical practice to improve patient outcomes.

CORRESPONDENCE
Paul D. Rosen MD, Brooklyn Hospital Center, Department of Family Medicine, 121 Dekalb Avenue, Brooklyn, New York 11201; [email protected]

Medical errors in all settings contributed to as many as 250,000 deaths per year in the United States between 2000 and 2008, according to a 2016 study.¹ Diagnostic error, in particular, remains a leading cause of morbidity and mortality in the United States and worldwide. In 2017, 12 million patients (roughly 5% of all US adults) who sought outpatient care experienced missed, delayed, or incorrect diagnosis at least once.²

In his classic work, How Doctors Think, Jerome Groopman, MD, explored the diagnostic process with a focus on the role of cognitive bias in clinical decision-making. Groopman examined how physicians can become sidetracked in their thinking and “blinded” to potential alternative diagnoses.³ Medical error is not necessarily because of a deficiency in medical knowledge; rather, physicians become susceptible to medical error when defective and faulty reasoning distort their diagnostic ability.⁴

Cognitive bias in the diagnostic process has been extensively studied, and a full review is beyond the scope of this article.⁵ However, here we will examine pathways leading to diagnostic errors in the primary care setting, specifically the role of cognitive bias in the work-up of polymyalgia rheumatica (PMR), ovarian cancer (OC), Lewy body dementia (LBD), and fibromyalgia (FM). As these 4 disease states are seen with low-to-moderate frequency in primary care, cognitive bias can complicate accurate diagnosis. But first, a word about how to understand clinical reasoning.

There are 2 types of reasoning (and 1 is more prone to error)

Physician clinical reasoning can be divided into 2 different cognitive approaches.

Type 1 reasoning employs intuition and heuristics; this type is automatic, reflexive, and quick.⁵ While the use of mental shortcuts in type 1 increases the speed with which decisions are made, it also makes this form of reasoning more prone to error.

Type 2 reasoning requires conscious effort. It is goal directed and rigorous and therefore slower than type 1 reasoning. Extrapolated to the clinical context, clinicians transition from type 2 to type 1 reasoning as they gain experience and training throughout their careers and develop their own conscious and subconscious heuristics. Deviations from accurate decision-making occur in a systematic manner due to cognitive biases and result in medical error.⁶table 1⁷ lists common types of cognitive bias.

An important question to ask. Physicians tend to fall into a pattern of quick, type 1 reasoning. However, it’s important to strive to maintain a broad differential diagnosis and avoid premature closure of the diagnostic process. It’s critical that we consider alternative diagnoses (ie, consciously move from type 1 to type 2 thinking) and continue to ask ourselves, “What else?” while working through differential diagnoses. This can be a powerful debiasing technique.

Continue to: The discussion...

The discussion of the following 4 disease states demonstrates how cognitive bias can lead to diagnostic error.

Case 1

An 82-year-old woman with a history of hypertension; wide-angle glaucoma; stage 2 chronic kidney disease; osteopenia; severe osteoarthritis (OA) affecting the hips, shoulders, and knees; insomnia; and depression is transferred to a new family medicine practice for evaluation. She has been taking nonsteroidal anti-­inflammatory drugs (NSAIDs) for chronic pain secondary to OA for 6 months, with no improvement in symptoms.

The patient is barely able to ambulate and appears to be in considerable pain. She is relying heavily on her walker and is assisted by her granddaughter. The primary care physician (PCP) obtains a detailed history that includes chronic shoulder and hip pain. Given that the patient has not responded to NSAID treatment over the previous 6 months, the PCP takes a moment to reconsider the diagnosis of OA and considers other options.

It’s critical that we consider alternative diagnoses and continue to ask ourselves, “What else?” while working through differential diagnoses.

In light of the high prevalence of PMR in older women, the physician pursues a more specific physical examination tailored to ferret out PMR. He had learned this diagnostic shortcut as a resident, remembered it, and adeptly applied it whenever circumstances warranted. He asks the patient to raise her arms above her head (goalpost sign). She is unable to perform this task and experiences severe bilateral shoulder pain on trial. The PCP then places the patient on the examining table and attempts to assist her in rolling toward him. The patient is also unable to perform this maneuver and experiences significant bilateral hip pain on trial.

Based primarily on the patient’s history and physical exam findings, the PCP makes a presumptive diagnosis of PMR vs OA vs combined PMR with OA, orders an erythrocyte sedimentation rate (ESR) and basic rheumatologic marker panel, and starts the patient on prednisone 10 mg/d. Lab work comes back and reveals mildly elevated ESR with all other findings within normal limits. Two weeks later, the patient returns for her follow-up visit, walking without a walker for the first time in years.

PMR can be mistaken for OA

PMR is the most common inflammatory rheumatic disease in older patients.⁸ It is a debilitating illness with simple, effective treatment but has devastating consequences if missed or left untreated.⁹ PMR typically manifests in patients older than age 50, with a peak incidence at 80 years of age. It is also far more common in women.¹⁰

Approximately 80% of patients with PMR initially present to their PCP, often posing a diagnostic challenge to many clinicians.¹¹ Due to overlap in symptoms, the condition is often misdiagnosed as OA, a more common condition seen by PCPs. Also, there are no specific diagnostic tests for PMR. An elevated ESR can help confirm the diagnosis, but one-third of patients with PMR have a normal ESR.¹² Therefore, the diagnostic conundrum the physician faces is OA vs rheumatoid arthritis (RA), PMR, or another condition.

Continue to: The consequences...

The consequences of a missed and delayed PMR diagnosis range from seriously impaired quality of life to significantly increased risk of vascular events (eg, blindness, stroke) due to temporal arteritis.¹³ Early diagnosis is even more critical as the risk of a vascular event and death is highest during initial phases of the disease course.¹⁴

FPs often miss this Dx. A timely diagnosis relies almost exclusively on an accurate, thorough history and physical exam. However, PCPs often struggle to correctly diagnose PMR. According to a study by Bahlas and colleagues,¹⁵ the accuracy rate for correctly diagnosing PMR was 24% among a cohort of family physicians.

The differential diagnosis for PMR is broad and includes seronegative spondyloarthropathies, malignancy, Lyme disease, hypothyroidism, and both RA and OA.¹⁶ 

PCPs are extremely adept at correctly diagnosing RA, but not PMR. A study by Blaauw and colleagues¹⁷ comparing PCPs and rheumatologists found PCPs correctly identified 92% of RA cases but only 55% of PMR cases. When rheumatologists reviewed these same cases, they correctly identified PMR and RA almost 100% of the time.¹⁷ The difference in diagnostic accuracy between rheumatologists and PCPs suggests limited experience and gaps in fund of knowledge. 

Making the diagnosis. The diagnosis of PMR is often made on empiric response to corticosteroid treatment, but doing so based solely on a patient’s response is controversial.¹⁸ There are rare instances in which patients with PMR fail to respond to treatment. On the other hand, some inflammatory conditions that mimic or share symptoms with PMR also respond to corticosteroids, potentially resulting in erroneous confirmation bias.

Some classification criteria use rapid response to low-dose prednisone/­prednisolone (≤ 20 mg) to confirm the diagnosis,¹⁹ while other more recent guidelines no longer include this approach.²⁰ If PMR continues to be suspected after a trial of steroids is unsuccessful, the PCP can try another course of higher dose steroids or consult with Rheumatology.

Case 2 

A woman in her mid-40s presented to a PCP’s office with a chief complaint of dyspepsia and bloating.^a The patient was attending a meeting in New York City, and this was her first visit to this physician. The patient previously had been treated for these symptoms by her hometown PCP and gastroenterologist.

Continue to: A full history...

A full history and physical exam revealed a myriad of gastrointestinal (GI) complaints, such as diarrhea. But the PCP recalled a recent roundtable discussion on debiasing techniques specifically related to gynecologic disorders, including OC. Therefore, he decided to include OC in the differential diagnosis—something he would not routinely have done given the preponderance of GI symptoms. Despite the patient’s reluctance and time constraints, the PCP ordered a transvaginal ultrasound. Findings from the ultrasound study revealed stage II OC, which carries a good prognosis. The patient is currently undergoing treatment and was last reported as doing well.

Early signs of ovarian cancer can be chalked up to a “GI issue”

OC is the second most common gynecologic cancer²¹ and the fifth leading cause of cancer-related death²² in US women. Compared to other cancers, the prognosis for localized ­early-stage OC is surprisingly good, with a 5-year survival rate approaching 93%.²³ However, most disease is detected in later stages, and the 5-year survival rate drops to a low of 29%.²⁴

There remains no established screening protocol for OC. Fewer than a quarter of all cases are diagnosed in stage I, and detection of OC relies heavily on the physician’s ability to decipher vague symptomatology that overlaps with other, more common maladies. This poses an obvious diagnostic challenge and, not surprisingly, a high level of susceptibility to cognitive bias. 

Most PCPs correctly identified bloating as a key symptom of ovarian cancer; however, they weren’t as good at identifying less common symptoms, such as inability to finish a meal.

More than 90% of patients with OC present with some combination of the following symptoms prior to diagnosis: abdominal (77%), GI (70%), pain (58%), constitutional (50%), urinary (34%), and pelvic (26%).²⁵ The 3 most common isolated symptoms in patients with OC are abdominal bloating, decrease in appetite, and frank abdominal pain.²⁶ Patients with biopsy-confirmed OC experience these symptoms an average of 6 months prior to actual diagnosis.²⁷

Knowledge gaps play a role. Studies assessing the ability of health care providers to identify presenting symptoms of OC reveal specific knowledge gaps. For instance, in a survey by Gajjar and colleagues,²⁸ most PCPs correctly identified bloating as a key symptom of OC; however, they weren’t as good at identifying less common symptoms, such as inability to finish a meal and early satiety. Moreover, survey participants misinterpreted or missed GI symptoms as an important manifestation of early OC disease.²⁸ These specific knowledge gaps combine with physician errors in thinking, further obscuring and extending the diagnostic process. The point prevalence for OC is relatively low, and many PCPs only encounter a few cases during their entire career.²⁹ This low pre-test probability may also fuel the delay in diagnosis.

Watch for these forms of bias. Since nonspecific symptoms of early-stage OC resemble those of other more benign conditions, a form of anchoring error known as multiple alternatives bias can arise. In this scenario, clinicians investigate only 1 potential plausible diagnosis and remain focused on that single, often faulty, conclusion. This persists despite other equally plausible alternatives that arise as the investigation proceeds.²⁸

Affective error may also play a role in missed or delayed diagnosis. For example, a physician would prefer to diagnose and treat a common GI illness than consider OC. Another distortion involves outcome bias wherein the physician gives more significance to benign conditions such as irritable bowel syndrome because they have a more favorable outcome and clear treatment path. Physicians also favor these benign conditions because they encounter them more frequently than OC in the clinic setting. (This is known as availability bias.) Outcome bias and multiple alternatives bias can result in noninvestigation of symptoms and inefficient or improper management, leading to a delay in arriving at the correct diagnosis or anchoring on a plausible but incorrect diagnosis.

Continue to: An incorrect initial diagnostic...

An incorrect initial diagnostic path often triggers a cascade of subsequent errors. The physician orders additional unhelpful and expensive tests in an effort to characterize the suspected GI pathology. This then leads the physician to prematurely terminate the work-up and accept the most favored diagnosis. Lastly, sunk-cost fallacy comes into play: The physician has “invested” time and energy investigating a particular diagnosis and rather than abandon the presumed diagnosis, continues to put more time and effort in going down an incorrect diagnostic path. 

A series of failures. These biases and miscues have been observed in several studies. For example, a survey of 1725 women by Goff and colleagues³⁰ sought to identify factors related to delayed OC diagnosis. The authors found that the following factors were significantly associated with a delayed diagnosis: omission of a pelvic exam at initial presentation, a separate exploration of a multitude of collateral symptoms, a failure to order ultrasound/computed tomography/CA-125 test, and a failure to consider age as a factor (especially if the patient was outside the norm). 

Responses from the survey also revealed that physicians initially ordered work-ups related to GI etiology and only later considered a pelvic work-up. This suggests that well-known presenting signs and symptoms or a constellation of typical and atypical symptoms of OC often failed to trigger physician recognition. Understandably, patients presenting with menorrhagia or gynecologic complaints are more likely to have OC detected at an earlier stage than patients who present with GI or abdominal signs alone.³¹ table 2⁷ summarizes some of the cognitive biases seen in the diagnostic path of OC.

Case 3

A 56-year-old man is brought to the ED by his wife and children for evaluation of odd behavior and episodes of confusion. The patient recently had a negative neurologic work-up for transient ischemic attack and cerebrovascular accident and is admitted for further work-up. He reports visual hallucinations to nursing staff. Screening for memory problems shows no significant deficits. The patient in fact scored a 27 on the Mini–Mental State Examination, well within the normal range. The family notes that the patient has had difficulty with planning over the previous year and has not seemed like his “old self.” The patient has no history of psychosis, schizophrenia, bipolar disorder, or any other psychiatric illness.

While in the hospital, he becomes acutely upset by the hallucinations and is given haloperidol and lorazepam by house staff. In the morning, the patient exhibits severe signs of Parkinson disease that include rigidity and masked facies.

Given the patient’s poor response to haloperidol and continued confusion, the team consulted Neurology and Psychiatry. Gathering a more detailed history from the patient and family, the patient is given a diagnosis of classic LBD. The antipsychotic medications are stopped. The patient and his family receive education about LBD treatment and management, and the patient is discharged to outpatient care.

Psychiatric symptoms can be an early “misdirect” in cases of Lewy body disease

LBD, the second leading neurodegenerative dementia after Alzheimer disease (AD), affects 1.5 million Americans,³² representing about 10% of all dementia cases. LBD and AD overlap in 25% of dementia cases.³³ In patients older than 85 years, the prevalence jumps to 5% of the general population and 22% of all cases of dementia.³³ Despite its prevalence, a recent study showed that only 6% of PCPs correctly identified LBD as the primary diagnosis when presented with typical case examples.³² 

Continue to: 3 stages of presentation

3 stages of presentation. Unlike other forms of dementia, LBD typically presents first with psychiatric symptoms, then with cognitive impairment, and last with parkinsonian symptoms. Additionally, rapid eye movement sleep behavior disorder and often subtle elements of nonmemory cognitive impairment distinguish LBD from both AD and vascular dementia.³² The primary cognitive deficit in LBD is not in memory but in attention, executive functioning, and visuospatial ability.³⁴ Only in the later stages of the disease do patients exhibit gradual and progressive memory loss. 

Mistaken for many things. When evaluating patients exhibiting signs of dementia, it’s important to include LBD in the differential, with increased suspicion for patients experiencing episodes of psychosis or delirium. The uniqueness of LBD lies in its psychotic symptomatology, particularly during earlier stages of the disease. This feature helps distinguish LBD from both AD and vascular dementia. As seen in the case, LBD can also be confused with acute delirium.

The uniqueness of Lewy body dementia lies in its psychotic symptomatology, particularly during earlier stages of the disease.

Older adult patients presenting to the ED or clinic with visual hallucinations, delirium, and mental confusion may receive a false diagnosis of schizophrenia, medication- or substance-induced psychosis, Parkinson disease, or delirium of unknown etiology.³⁵ Unfortunately, LBD is often overlooked and not considered in the differential diagnosis. Due to underrecognition, patients may receive treatment with typical antipsychotics. The addition of a neuroleptic to help control the psychotic symptoms causes patients with LBD to develop severe extrapyramidal symptoms and worsening mental status,³⁶ leading to severe parkinsonian signs, which further muddies the diagnostic process. In addition, treatment for suspected Parkinson disease, including carbidopa-levodopa, has no benefit for patients with LBD and may increase psychotic symptoms.³⁷

First-line treatment for LBD includes psychoeducation for the patient and family, cholinesterase inhibitors (eg, rivastigmine), and avoidance of high-potency antipsychotics, such as haloperidol. Although persistent hallucinations and psychosis remain difficult to treat in LBD, low-dose quetiapine is 1 option. Incorrectly diagnosing and prescribing treatment for another condition exacerbates symptoms in this patient population.

Case 4

A 36-year-old Hispanic woman presents to the PCP for her annual physical exam. The patient’s medical record shows 2 previous office visits over the past 2 years—an annual physical exam and an office visit for the flu vaccine. The patient is highly accomplished in her profession, working as a certified public accountant for a major corporation. She is a nonsmoker and reports only casual social drinking and no recreational drug use. The patient is slightly overweight for her height but is otherwise healthy. Previous lab studies are within normal limits.

The patient has been experiencing chronic pain for the past few years after a motor vehicle accident. She has seen a physiatrist and another provider, both of whom found no “objective” causes of her chronic pain. They started the patient on sertraline for depression and an analgesic, both of which were ineffective.

The patient likes to exercise at a gym twice a week by doing light cardio (treadmill) exercise and light weightlifting. Lately, however, she has been unable to exercise due to the pain. At this visit, she mentions having low energy, poor sleep, frequent fatigue, and generalized soreness and pain in multiple areas of her body. The PCP recognizes the patient’s presenting symptoms as significant for FM and starts her on pregabalin and hydrotherapy, with positive results.

Continue to: Fibromyalgia skepticism may lead to a Dx of depression

FM, the second most common disorder seen in rheumatologic practice after OA, is estimated to affect approximately 1 in 20 patients (approximately 5 million Americans) in the primary care setting.^38,39 The condition has a high female-to-male preponderance (3.4% vs 0.5%).⁴⁰ While the primary symptom of FM is chronic pain, patients commonly present with fatigue and sleep disturbance.⁴¹ Comorbid conditions include headaches, irritable bowel syndrome, and mood disturbances (most commonly anxiety and depression). 

Patients with fibromyalgia, who are often otherwise healthy, often present multiple times to the same PCP with a chief complaint of chronic pain.

Several studies have explored reasons for the misdiagnosis and underdiagnosis of FM. One important factor is ongoing skepticism among some physicians and the public, in general, as to whether FM is a real disease. This issue was addressed by a study by White and colleagues,⁴² who estimated and compared the point prevalence of FM and related disorders in Amish vs non-Amish adults. The authors hypothesized that if litigation and/or compensation availability have a major impact on FM prevalence, then there would be a near zero prevalence of FM in the Amish community. And yet, researchers found an overall age- and sex-adjusted FM prevalence of 7.3% (95% CI; 5.3%-9.7%); this was both statistically greater than zero (P < .0001) and greater than 2 control populations of non-Amish adults (both P < .05).

Many physicians consider FM fundamentally an emotional disturbance, and the high preponderance of FM in female patients may contribute to this misconception as reports of pain and emotional distress by women are often dismissed as hysteria.⁴³ Physicians often explore the emotional aspects of FM, incorrectly diagnosing patients with depression and subsequently treating them with a psychotropic drug.³⁹ Alternatively, they may focus on the musculoskeletal presentations of FM and prescribe analgesics or physical therapy, both of which do little to alleviate FM. 

To make the correct diagnosis of FM, the American College of Rheumatology created a specific set of criteria in 1990, which was updated in 2010.⁴⁴ For a diagnosis of FM, a patient must have at least a 3-month history of bilateral pain above and below the waist and along the axial skeletal spine. Although not included in the updated 2010 criteria, many clinicians continue to check for tender points, following the 1990 criteria requiring the presence of 11 of 18 points to make the diagnosis.

At least 3 cognitive biases relating to FM apply: anchoring, availability, and fundamental attribution error (see table 3).⁷ Anchoring occurs when the PCP settles on a psychiatric diagnosis of exaggerated pain syndrome, muscle overuse, or OA and fails to explore alternative etiology. Availability bias may obscure the true diagnosis of FM. Since PCPs see many patients with RA or OA, they may overlook or dismiss the possibility of FM. Attribution error happens when physicians dismiss the complaints of patients with FM as merely due to psychological distress, hysteria, or acting out.⁴³

Patients with FM, who are often otherwise healthy, often present multiple times to the same PCP with a chief complaint of chronic pain. These repeat presentations can result in compassion fatigue and impact care. As Aloush and colleagues⁴⁰ noted in their study, “FM patients were perceived as more difficult than RA patients, with a high level of concern and emotional response. A high proportion of physicians were reluctant to accept them because they feel emotional/psychological difficulties meeting and coping with these patients.”In response, patients with undiagnosed FM or inadequately treated FM may visit other PCPs, which may or may not result in a correct diagnosis and treatment.

We can do better

Primary care physicians face the daunting task of diagnosing and treating a wide range of common conditions while also trying to recognize less-common conditions with atypical presentations—all during a busy clinic workday. Nonetheless, we should strive to overcome internal (eg, cognitive bias and fund-of-knowledge deficits) and external (eg, time constraints, limited resources) pressures to improve diagnostic accuracy and care.

Each of the 4 disease states we’ve discussed have high rates of missed and/or delayed diagnosis. Each presents a unique set of confounders: PMR with its overlapping symptoms of many other rheumatologic diseases; OC with its often vague and misleading GI symptomatology; LBD with overlapping features of AD and Parkinson disease; and FM with skepticism. As gatekeepers to health care, it falls on PCPs to sort out these diagnostic dilemmas to avoid medical errors. Fundamental knowledge of each disease, its unique pathophysiology and symptoms, and varying presentations can be learned, internalized, and subsequently put into clinical practice to improve patient outcomes.

CORRESPONDENCE
Paul D. Rosen MD, Brooklyn Hospital Center, Department of Family Medicine, 121 Dekalb Avenue, Brooklyn, New York 11201; [email protected]

Medical errors in all settings contributed to as many as 250,000 deaths per year in the United States between 2000 and 2008, according to a 2016 study.¹ Diagnostic error, in particular, remains a leading cause of morbidity and mortality in the United States and worldwide. In 2017, 12 million patients (roughly 5% of all US adults) who sought outpatient care experienced missed, delayed, or incorrect diagnosis at least once.²

In his classic work, How Doctors Think, Jerome Groopman, MD, explored the diagnostic process with a focus on the role of cognitive bias in clinical decision-making. Groopman examined how physicians can become sidetracked in their thinking and “blinded” to potential alternative diagnoses.³ Medical error is not necessarily because of a deficiency in medical knowledge; rather, physicians become susceptible to medical error when defective and faulty reasoning distort their diagnostic ability.⁴

Cognitive bias in the diagnostic process has been extensively studied, and a full review is beyond the scope of this article.⁵ However, here we will examine pathways leading to diagnostic errors in the primary care setting, specifically the role of cognitive bias in the work-up of polymyalgia rheumatica (PMR), ovarian cancer (OC), Lewy body dementia (LBD), and fibromyalgia (FM). As these 4 disease states are seen with low-to-moderate frequency in primary care, cognitive bias can complicate accurate diagnosis. But first, a word about how to understand clinical reasoning.

There are 2 types of reasoning (and 1 is more prone to error)

Physician clinical reasoning can be divided into 2 different cognitive approaches.

Type 1 reasoning employs intuition and heuristics; this type is automatic, reflexive, and quick.⁵ While the use of mental shortcuts in type 1 increases the speed with which decisions are made, it also makes this form of reasoning more prone to error.

Type 2 reasoning requires conscious effort. It is goal directed and rigorous and therefore slower than type 1 reasoning. Extrapolated to the clinical context, clinicians transition from type 2 to type 1 reasoning as they gain experience and training throughout their careers and develop their own conscious and subconscious heuristics. Deviations from accurate decision-making occur in a systematic manner due to cognitive biases and result in medical error.⁶table 1⁷ lists common types of cognitive bias.

An important question to ask. Physicians tend to fall into a pattern of quick, type 1 reasoning. However, it’s important to strive to maintain a broad differential diagnosis and avoid premature closure of the diagnostic process. It’s critical that we consider alternative diagnoses (ie, consciously move from type 1 to type 2 thinking) and continue to ask ourselves, “What else?” while working through differential diagnoses. This can be a powerful debiasing technique.

Continue to: The discussion...

The discussion of the following 4 disease states demonstrates how cognitive bias can lead to diagnostic error.

Case 1

An 82-year-old woman with a history of hypertension; wide-angle glaucoma; stage 2 chronic kidney disease; osteopenia; severe osteoarthritis (OA) affecting the hips, shoulders, and knees; insomnia; and depression is transferred to a new family medicine practice for evaluation. She has been taking nonsteroidal anti-­inflammatory drugs (NSAIDs) for chronic pain secondary to OA for 6 months, with no improvement in symptoms.

The patient is barely able to ambulate and appears to be in considerable pain. She is relying heavily on her walker and is assisted by her granddaughter. The primary care physician (PCP) obtains a detailed history that includes chronic shoulder and hip pain. Given that the patient has not responded to NSAID treatment over the previous 6 months, the PCP takes a moment to reconsider the diagnosis of OA and considers other options.

It’s critical that we consider alternative diagnoses and continue to ask ourselves, “What else?” while working through differential diagnoses.

In light of the high prevalence of PMR in older women, the physician pursues a more specific physical examination tailored to ferret out PMR. He had learned this diagnostic shortcut as a resident, remembered it, and adeptly applied it whenever circumstances warranted. He asks the patient to raise her arms above her head (goalpost sign). She is unable to perform this task and experiences severe bilateral shoulder pain on trial. The PCP then places the patient on the examining table and attempts to assist her in rolling toward him. The patient is also unable to perform this maneuver and experiences significant bilateral hip pain on trial.

Based primarily on the patient’s history and physical exam findings, the PCP makes a presumptive diagnosis of PMR vs OA vs combined PMR with OA, orders an erythrocyte sedimentation rate (ESR) and basic rheumatologic marker panel, and starts the patient on prednisone 10 mg/d. Lab work comes back and reveals mildly elevated ESR with all other findings within normal limits. Two weeks later, the patient returns for her follow-up visit, walking without a walker for the first time in years.

PMR can be mistaken for OA

PMR is the most common inflammatory rheumatic disease in older patients.⁸ It is a debilitating illness with simple, effective treatment but has devastating consequences if missed or left untreated.⁹ PMR typically manifests in patients older than age 50, with a peak incidence at 80 years of age. It is also far more common in women.¹⁰

Approximately 80% of patients with PMR initially present to their PCP, often posing a diagnostic challenge to many clinicians.¹¹ Due to overlap in symptoms, the condition is often misdiagnosed as OA, a more common condition seen by PCPs. Also, there are no specific diagnostic tests for PMR. An elevated ESR can help confirm the diagnosis, but one-third of patients with PMR have a normal ESR.¹² Therefore, the diagnostic conundrum the physician faces is OA vs rheumatoid arthritis (RA), PMR, or another condition.

Continue to: The consequences...

The consequences of a missed and delayed PMR diagnosis range from seriously impaired quality of life to significantly increased risk of vascular events (eg, blindness, stroke) due to temporal arteritis.¹³ Early diagnosis is even more critical as the risk of a vascular event and death is highest during initial phases of the disease course.¹⁴

FPs often miss this Dx. A timely diagnosis relies almost exclusively on an accurate, thorough history and physical exam. However, PCPs often struggle to correctly diagnose PMR. According to a study by Bahlas and colleagues,¹⁵ the accuracy rate for correctly diagnosing PMR was 24% among a cohort of family physicians.

The differential diagnosis for PMR is broad and includes seronegative spondyloarthropathies, malignancy, Lyme disease, hypothyroidism, and both RA and OA.¹⁶ 

PCPs are extremely adept at correctly diagnosing RA, but not PMR. A study by Blaauw and colleagues¹⁷ comparing PCPs and rheumatologists found PCPs correctly identified 92% of RA cases but only 55% of PMR cases. When rheumatologists reviewed these same cases, they correctly identified PMR and RA almost 100% of the time.¹⁷ The difference in diagnostic accuracy between rheumatologists and PCPs suggests limited experience and gaps in fund of knowledge. 

Making the diagnosis. The diagnosis of PMR is often made on empiric response to corticosteroid treatment, but doing so based solely on a patient’s response is controversial.¹⁸ There are rare instances in which patients with PMR fail to respond to treatment. On the other hand, some inflammatory conditions that mimic or share symptoms with PMR also respond to corticosteroids, potentially resulting in erroneous confirmation bias.

Some classification criteria use rapid response to low-dose prednisone/­prednisolone (≤ 20 mg) to confirm the diagnosis,¹⁹ while other more recent guidelines no longer include this approach.²⁰ If PMR continues to be suspected after a trial of steroids is unsuccessful, the PCP can try another course of higher dose steroids or consult with Rheumatology.

Case 2 

A woman in her mid-40s presented to a PCP’s office with a chief complaint of dyspepsia and bloating.^a The patient was attending a meeting in New York City, and this was her first visit to this physician. The patient previously had been treated for these symptoms by her hometown PCP and gastroenterologist.

Continue to: A full history...

A full history and physical exam revealed a myriad of gastrointestinal (GI) complaints, such as diarrhea. But the PCP recalled a recent roundtable discussion on debiasing techniques specifically related to gynecologic disorders, including OC. Therefore, he decided to include OC in the differential diagnosis—something he would not routinely have done given the preponderance of GI symptoms. Despite the patient’s reluctance and time constraints, the PCP ordered a transvaginal ultrasound. Findings from the ultrasound study revealed stage II OC, which carries a good prognosis. The patient is currently undergoing treatment and was last reported as doing well.

Early signs of ovarian cancer can be chalked up to a “GI issue”

OC is the second most common gynecologic cancer²¹ and the fifth leading cause of cancer-related death²² in US women. Compared to other cancers, the prognosis for localized ­early-stage OC is surprisingly good, with a 5-year survival rate approaching 93%.²³ However, most disease is detected in later stages, and the 5-year survival rate drops to a low of 29%.²⁴

There remains no established screening protocol for OC. Fewer than a quarter of all cases are diagnosed in stage I, and detection of OC relies heavily on the physician’s ability to decipher vague symptomatology that overlaps with other, more common maladies. This poses an obvious diagnostic challenge and, not surprisingly, a high level of susceptibility to cognitive bias. 

Most PCPs correctly identified bloating as a key symptom of ovarian cancer; however, they weren’t as good at identifying less common symptoms, such as inability to finish a meal.

More than 90% of patients with OC present with some combination of the following symptoms prior to diagnosis: abdominal (77%), GI (70%), pain (58%), constitutional (50%), urinary (34%), and pelvic (26%).²⁵ The 3 most common isolated symptoms in patients with OC are abdominal bloating, decrease in appetite, and frank abdominal pain.²⁶ Patients with biopsy-confirmed OC experience these symptoms an average of 6 months prior to actual diagnosis.²⁷

Knowledge gaps play a role. Studies assessing the ability of health care providers to identify presenting symptoms of OC reveal specific knowledge gaps. For instance, in a survey by Gajjar and colleagues,²⁸ most PCPs correctly identified bloating as a key symptom of OC; however, they weren’t as good at identifying less common symptoms, such as inability to finish a meal and early satiety. Moreover, survey participants misinterpreted or missed GI symptoms as an important manifestation of early OC disease.²⁸ These specific knowledge gaps combine with physician errors in thinking, further obscuring and extending the diagnostic process. The point prevalence for OC is relatively low, and many PCPs only encounter a few cases during their entire career.²⁹ This low pre-test probability may also fuel the delay in diagnosis.

Watch for these forms of bias. Since nonspecific symptoms of early-stage OC resemble those of other more benign conditions, a form of anchoring error known as multiple alternatives bias can arise. In this scenario, clinicians investigate only 1 potential plausible diagnosis and remain focused on that single, often faulty, conclusion. This persists despite other equally plausible alternatives that arise as the investigation proceeds.²⁸

Affective error may also play a role in missed or delayed diagnosis. For example, a physician would prefer to diagnose and treat a common GI illness than consider OC. Another distortion involves outcome bias wherein the physician gives more significance to benign conditions such as irritable bowel syndrome because they have a more favorable outcome and clear treatment path. Physicians also favor these benign conditions because they encounter them more frequently than OC in the clinic setting. (This is known as availability bias.) Outcome bias and multiple alternatives bias can result in noninvestigation of symptoms and inefficient or improper management, leading to a delay in arriving at the correct diagnosis or anchoring on a plausible but incorrect diagnosis.

Continue to: An incorrect initial diagnostic...

An incorrect initial diagnostic path often triggers a cascade of subsequent errors. The physician orders additional unhelpful and expensive tests in an effort to characterize the suspected GI pathology. This then leads the physician to prematurely terminate the work-up and accept the most favored diagnosis. Lastly, sunk-cost fallacy comes into play: The physician has “invested” time and energy investigating a particular diagnosis and rather than abandon the presumed diagnosis, continues to put more time and effort in going down an incorrect diagnostic path. 

A series of failures. These biases and miscues have been observed in several studies. For example, a survey of 1725 women by Goff and colleagues³⁰ sought to identify factors related to delayed OC diagnosis. The authors found that the following factors were significantly associated with a delayed diagnosis: omission of a pelvic exam at initial presentation, a separate exploration of a multitude of collateral symptoms, a failure to order ultrasound/computed tomography/CA-125 test, and a failure to consider age as a factor (especially if the patient was outside the norm). 

Responses from the survey also revealed that physicians initially ordered work-ups related to GI etiology and only later considered a pelvic work-up. This suggests that well-known presenting signs and symptoms or a constellation of typical and atypical symptoms of OC often failed to trigger physician recognition. Understandably, patients presenting with menorrhagia or gynecologic complaints are more likely to have OC detected at an earlier stage than patients who present with GI or abdominal signs alone.³¹ table 2⁷ summarizes some of the cognitive biases seen in the diagnostic path of OC.

Case 3

A 56-year-old man is brought to the ED by his wife and children for evaluation of odd behavior and episodes of confusion. The patient recently had a negative neurologic work-up for transient ischemic attack and cerebrovascular accident and is admitted for further work-up. He reports visual hallucinations to nursing staff. Screening for memory problems shows no significant deficits. The patient in fact scored a 27 on the Mini–Mental State Examination, well within the normal range. The family notes that the patient has had difficulty with planning over the previous year and has not seemed like his “old self.” The patient has no history of psychosis, schizophrenia, bipolar disorder, or any other psychiatric illness.

While in the hospital, he becomes acutely upset by the hallucinations and is given haloperidol and lorazepam by house staff. In the morning, the patient exhibits severe signs of Parkinson disease that include rigidity and masked facies.

Given the patient’s poor response to haloperidol and continued confusion, the team consulted Neurology and Psychiatry. Gathering a more detailed history from the patient and family, the patient is given a diagnosis of classic LBD. The antipsychotic medications are stopped. The patient and his family receive education about LBD treatment and management, and the patient is discharged to outpatient care.

Psychiatric symptoms can be an early “misdirect” in cases of Lewy body disease

LBD, the second leading neurodegenerative dementia after Alzheimer disease (AD), affects 1.5 million Americans,³² representing about 10% of all dementia cases. LBD and AD overlap in 25% of dementia cases.³³ In patients older than 85 years, the prevalence jumps to 5% of the general population and 22% of all cases of dementia.³³ Despite its prevalence, a recent study showed that only 6% of PCPs correctly identified LBD as the primary diagnosis when presented with typical case examples.³² 

Continue to: 3 stages of presentation

3 stages of presentation. Unlike other forms of dementia, LBD typically presents first with psychiatric symptoms, then with cognitive impairment, and last with parkinsonian symptoms. Additionally, rapid eye movement sleep behavior disorder and often subtle elements of nonmemory cognitive impairment distinguish LBD from both AD and vascular dementia.³² The primary cognitive deficit in LBD is not in memory but in attention, executive functioning, and visuospatial ability.³⁴ Only in the later stages of the disease do patients exhibit gradual and progressive memory loss. 

Mistaken for many things. When evaluating patients exhibiting signs of dementia, it’s important to include LBD in the differential, with increased suspicion for patients experiencing episodes of psychosis or delirium. The uniqueness of LBD lies in its psychotic symptomatology, particularly during earlier stages of the disease. This feature helps distinguish LBD from both AD and vascular dementia. As seen in the case, LBD can also be confused with acute delirium.

The uniqueness of Lewy body dementia lies in its psychotic symptomatology, particularly during earlier stages of the disease.

Older adult patients presenting to the ED or clinic with visual hallucinations, delirium, and mental confusion may receive a false diagnosis of schizophrenia, medication- or substance-induced psychosis, Parkinson disease, or delirium of unknown etiology.³⁵ Unfortunately, LBD is often overlooked and not considered in the differential diagnosis. Due to underrecognition, patients may receive treatment with typical antipsychotics. The addition of a neuroleptic to help control the psychotic symptoms causes patients with LBD to develop severe extrapyramidal symptoms and worsening mental status,³⁶ leading to severe parkinsonian signs, which further muddies the diagnostic process. In addition, treatment for suspected Parkinson disease, including carbidopa-levodopa, has no benefit for patients with LBD and may increase psychotic symptoms.³⁷

First-line treatment for LBD includes psychoeducation for the patient and family, cholinesterase inhibitors (eg, rivastigmine), and avoidance of high-potency antipsychotics, such as haloperidol. Although persistent hallucinations and psychosis remain difficult to treat in LBD, low-dose quetiapine is 1 option. Incorrectly diagnosing and prescribing treatment for another condition exacerbates symptoms in this patient population.

Case 4

A 36-year-old Hispanic woman presents to the PCP for her annual physical exam. The patient’s medical record shows 2 previous office visits over the past 2 years—an annual physical exam and an office visit for the flu vaccine. The patient is highly accomplished in her profession, working as a certified public accountant for a major corporation. She is a nonsmoker and reports only casual social drinking and no recreational drug use. The patient is slightly overweight for her height but is otherwise healthy. Previous lab studies are within normal limits.

The patient has been experiencing chronic pain for the past few years after a motor vehicle accident. She has seen a physiatrist and another provider, both of whom found no “objective” causes of her chronic pain. They started the patient on sertraline for depression and an analgesic, both of which were ineffective.

The patient likes to exercise at a gym twice a week by doing light cardio (treadmill) exercise and light weightlifting. Lately, however, she has been unable to exercise due to the pain. At this visit, she mentions having low energy, poor sleep, frequent fatigue, and generalized soreness and pain in multiple areas of her body. The PCP recognizes the patient’s presenting symptoms as significant for FM and starts her on pregabalin and hydrotherapy, with positive results.

Continue to: Fibromyalgia skepticism may lead to a Dx of depression

FM, the second most common disorder seen in rheumatologic practice after OA, is estimated to affect approximately 1 in 20 patients (approximately 5 million Americans) in the primary care setting.^38,39 The condition has a high female-to-male preponderance (3.4% vs 0.5%).⁴⁰ While the primary symptom of FM is chronic pain, patients commonly present with fatigue and sleep disturbance.⁴¹ Comorbid conditions include headaches, irritable bowel syndrome, and mood disturbances (most commonly anxiety and depression). 

Patients with fibromyalgia, who are often otherwise healthy, often present multiple times to the same PCP with a chief complaint of chronic pain.

Several studies have explored reasons for the misdiagnosis and underdiagnosis of FM. One important factor is ongoing skepticism among some physicians and the public, in general, as to whether FM is a real disease. This issue was addressed by a study by White and colleagues,⁴² who estimated and compared the point prevalence of FM and related disorders in Amish vs non-Amish adults. The authors hypothesized that if litigation and/or compensation availability have a major impact on FM prevalence, then there would be a near zero prevalence of FM in the Amish community. And yet, researchers found an overall age- and sex-adjusted FM prevalence of 7.3% (95% CI; 5.3%-9.7%); this was both statistically greater than zero (P < .0001) and greater than 2 control populations of non-Amish adults (both P < .05).

Many physicians consider FM fundamentally an emotional disturbance, and the high preponderance of FM in female patients may contribute to this misconception as reports of pain and emotional distress by women are often dismissed as hysteria.⁴³ Physicians often explore the emotional aspects of FM, incorrectly diagnosing patients with depression and subsequently treating them with a psychotropic drug.³⁹ Alternatively, they may focus on the musculoskeletal presentations of FM and prescribe analgesics or physical therapy, both of which do little to alleviate FM.