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Genetic testing warranted in epilepsy of unknown origin
ORLANDO — , new research suggests. Investigators found that pathogenic genetic variants were identified in over 40% of patients with epilepsy of unknown cause who underwent genetic testing.
Such testing is particularly beneficial for those with early-onset epilepsy and those with comorbid developmental delay, said study investigator Yi Li, MD, PhD, clinical assistant professor, Department of Neurology & Neurological Sciences, Stanford University School of Medicine, Stanford, California.
But every patient with epilepsy of unknown etiology needs to consider genetic testing as part of their standard workup.
Dr. Li noted research showing that a diagnosis of a genetic epilepsy leads to alteration of treatment in about 20% of cases — for example, starting a specific antiseizure medication or avoiding a treatment such as a sodium channel blocker in patients diagnosed with Dravet syndrome. A genetic diagnosis also may make patients eligible for clinical trials investigating gene therapies.
Genetic testing results may end a long and exhausting “diagnostic odyssey” that families have been on, she said. Patients often wait more than a decade to get genetic testing, the study found.
The findings were presented at the annual meeting of the American Epilepsy Society.
Major Delays
About 20%-30% of epilepsy is caused by acquired conditions such as stroke, tumor, or head injury. The remaining 70%-80% is believed to be due to one or more genetic factors.
Genetic testing has become standard for children with early-onset epilepsy, but it’s not common practice among adults with the condition — at least not yet.
The retrospective study involved a chart review of patient electronic health records from 2018-2023. Researchers used the Stanford electronic health record Cohort Discovery tool (STARR) database to identify 286 patients over age 16 years with epilepsy who had records of genetic testing.
Of the 286 patients, 148 were male and 138 female, and mean age was approximately 30 years. Among those with known epilepsy types, 53.6% had focal epilepsy and 28.8% had generalized epilpesy.
The mean age of seizure onset was 11.9 years, but the mean age at genetic testing was 25.1 years. “There’s a gap of about 13 or 14 years for genetic workup after a patient has a first seizure,” said Dr. Li.
Such a “huge delay” means patients may miss out on “potential precision treatment choices,” she said.
And having a diagnosis can connect patients to others with the same condition as well as to related organizations and communities that offer support, she added.
Types of genetic testing identified in the study included panel testing, which looks at the genes associated with epilepsy; whole exome sequencing (WES), which includes all 20,000 genes in one test; and microarray testing, which assesses missing sections of chromosomes. WES had the highest diagnostic yield (48%), followed by genetic panel testing (32.7%) and microarray testing (20.9%).
These tests collectively identified pathogenic variants in 40.9% of patients. In addition, test results showed that 53.10% of patients had variants of uncertain significance.
In the full cohort, the most commonly identified variants were mutations in TSC1 (which causes tuberous sclerosis, SCN1A (which causes Dravet syndrome), and MECP2. Among patients with seizure onset after age 1 year, MECP2 and DEPDC5 were the two most commonly identified pathogenic variants.
Researchers examined factors possibly associated with a higher risk for genetic epilepsy, including family history, comorbid developmental delay, febrile seizures, status epilepticus, perinatal injury, and seizure onset age. In an adjusted analysis, comorbid developmental delay (estimate 2.338; 95% confidence interval [CI], 1.402-3.900; P =.001) and seizure onset before 1 year (estimate 2.365; 95% CI, 1.282-4.366; P =.006) predicted higher yield of pathogenic variants related to epilepsy.
Dr. Li noted that study participants with a family history of epilepsy were not more likely to test positive for a genetic link, so doctors shouldn’t rule out testing in patients if there’s no family history.
Both the International League Against Epilepsy (ILAE) and the National Society of Genetic Counselors (NSGC) recommend genetic testing in adult epilepsy patients, with the AES endorsing the NSGC guideline.
Although testing is becoming increasingly accessible, insurance companies don’t always cover the cost.
Dr. Li said she hopes her research raises awareness among clinicians that there’s more they can do to improve care for epilepsy patients. “We should offer patients genetic testing if we don’t have a clear etiology.”
Valuable Evidence
Commenting on the research findings, Annapurna Poduri, MD, MPH, director, Epilepsy Genetics Program, Boston Children’s Hospital, Boston, Massachusetts, said this research “is incredibly important.”
“What’s really telling about this study and others that have come up over the last few years is they’re real-world retrospective studies, so they’re looking back at patients who have been seen over many, many years.”
The research provides clinicians, insurance companies, and others with evidence that genetic testing is “valuable and can actually improve outcomes,” said Dr. Poduri.
She noted that 20 years ago, there were only a handful of genes identified as being involved with epilepsy, most related to sodium or potassium channels. But since then, “the technology has just raced ahead” to the point where now “dozens of genes” have been identified.
Not only does knowing the genetic basis of epilepsy improve management, but it offers families some peace of mind. “They blame themselves” for their loved one’s condition, said Dr. Poduri. “They may worry it was something they did in pregnancy; for example, maybe it was because [they] didn’t take that vitamin one day.”
Diagnostic certainty also means that patients “don’t have to do more tests which might be invasive” and unnecessarily costly.
Drs. Li and Poduri report no relevant conflicts of interest.
A version of this article first appeared on Medscape.com.
ORLANDO — , new research suggests. Investigators found that pathogenic genetic variants were identified in over 40% of patients with epilepsy of unknown cause who underwent genetic testing.
Such testing is particularly beneficial for those with early-onset epilepsy and those with comorbid developmental delay, said study investigator Yi Li, MD, PhD, clinical assistant professor, Department of Neurology & Neurological Sciences, Stanford University School of Medicine, Stanford, California.
But every patient with epilepsy of unknown etiology needs to consider genetic testing as part of their standard workup.
Dr. Li noted research showing that a diagnosis of a genetic epilepsy leads to alteration of treatment in about 20% of cases — for example, starting a specific antiseizure medication or avoiding a treatment such as a sodium channel blocker in patients diagnosed with Dravet syndrome. A genetic diagnosis also may make patients eligible for clinical trials investigating gene therapies.
Genetic testing results may end a long and exhausting “diagnostic odyssey” that families have been on, she said. Patients often wait more than a decade to get genetic testing, the study found.
The findings were presented at the annual meeting of the American Epilepsy Society.
Major Delays
About 20%-30% of epilepsy is caused by acquired conditions such as stroke, tumor, or head injury. The remaining 70%-80% is believed to be due to one or more genetic factors.
Genetic testing has become standard for children with early-onset epilepsy, but it’s not common practice among adults with the condition — at least not yet.
The retrospective study involved a chart review of patient electronic health records from 2018-2023. Researchers used the Stanford electronic health record Cohort Discovery tool (STARR) database to identify 286 patients over age 16 years with epilepsy who had records of genetic testing.
Of the 286 patients, 148 were male and 138 female, and mean age was approximately 30 years. Among those with known epilepsy types, 53.6% had focal epilepsy and 28.8% had generalized epilpesy.
The mean age of seizure onset was 11.9 years, but the mean age at genetic testing was 25.1 years. “There’s a gap of about 13 or 14 years for genetic workup after a patient has a first seizure,” said Dr. Li.
Such a “huge delay” means patients may miss out on “potential precision treatment choices,” she said.
And having a diagnosis can connect patients to others with the same condition as well as to related organizations and communities that offer support, she added.
Types of genetic testing identified in the study included panel testing, which looks at the genes associated with epilepsy; whole exome sequencing (WES), which includes all 20,000 genes in one test; and microarray testing, which assesses missing sections of chromosomes. WES had the highest diagnostic yield (48%), followed by genetic panel testing (32.7%) and microarray testing (20.9%).
These tests collectively identified pathogenic variants in 40.9% of patients. In addition, test results showed that 53.10% of patients had variants of uncertain significance.
In the full cohort, the most commonly identified variants were mutations in TSC1 (which causes tuberous sclerosis, SCN1A (which causes Dravet syndrome), and MECP2. Among patients with seizure onset after age 1 year, MECP2 and DEPDC5 were the two most commonly identified pathogenic variants.
Researchers examined factors possibly associated with a higher risk for genetic epilepsy, including family history, comorbid developmental delay, febrile seizures, status epilepticus, perinatal injury, and seizure onset age. In an adjusted analysis, comorbid developmental delay (estimate 2.338; 95% confidence interval [CI], 1.402-3.900; P =.001) and seizure onset before 1 year (estimate 2.365; 95% CI, 1.282-4.366; P =.006) predicted higher yield of pathogenic variants related to epilepsy.
Dr. Li noted that study participants with a family history of epilepsy were not more likely to test positive for a genetic link, so doctors shouldn’t rule out testing in patients if there’s no family history.
Both the International League Against Epilepsy (ILAE) and the National Society of Genetic Counselors (NSGC) recommend genetic testing in adult epilepsy patients, with the AES endorsing the NSGC guideline.
Although testing is becoming increasingly accessible, insurance companies don’t always cover the cost.
Dr. Li said she hopes her research raises awareness among clinicians that there’s more they can do to improve care for epilepsy patients. “We should offer patients genetic testing if we don’t have a clear etiology.”
Valuable Evidence
Commenting on the research findings, Annapurna Poduri, MD, MPH, director, Epilepsy Genetics Program, Boston Children’s Hospital, Boston, Massachusetts, said this research “is incredibly important.”
“What’s really telling about this study and others that have come up over the last few years is they’re real-world retrospective studies, so they’re looking back at patients who have been seen over many, many years.”
The research provides clinicians, insurance companies, and others with evidence that genetic testing is “valuable and can actually improve outcomes,” said Dr. Poduri.
She noted that 20 years ago, there were only a handful of genes identified as being involved with epilepsy, most related to sodium or potassium channels. But since then, “the technology has just raced ahead” to the point where now “dozens of genes” have been identified.
Not only does knowing the genetic basis of epilepsy improve management, but it offers families some peace of mind. “They blame themselves” for their loved one’s condition, said Dr. Poduri. “They may worry it was something they did in pregnancy; for example, maybe it was because [they] didn’t take that vitamin one day.”
Diagnostic certainty also means that patients “don’t have to do more tests which might be invasive” and unnecessarily costly.
Drs. Li and Poduri report no relevant conflicts of interest.
A version of this article first appeared on Medscape.com.
ORLANDO — , new research suggests. Investigators found that pathogenic genetic variants were identified in over 40% of patients with epilepsy of unknown cause who underwent genetic testing.
Such testing is particularly beneficial for those with early-onset epilepsy and those with comorbid developmental delay, said study investigator Yi Li, MD, PhD, clinical assistant professor, Department of Neurology & Neurological Sciences, Stanford University School of Medicine, Stanford, California.
But every patient with epilepsy of unknown etiology needs to consider genetic testing as part of their standard workup.
Dr. Li noted research showing that a diagnosis of a genetic epilepsy leads to alteration of treatment in about 20% of cases — for example, starting a specific antiseizure medication or avoiding a treatment such as a sodium channel blocker in patients diagnosed with Dravet syndrome. A genetic diagnosis also may make patients eligible for clinical trials investigating gene therapies.
Genetic testing results may end a long and exhausting “diagnostic odyssey” that families have been on, she said. Patients often wait more than a decade to get genetic testing, the study found.
The findings were presented at the annual meeting of the American Epilepsy Society.
Major Delays
About 20%-30% of epilepsy is caused by acquired conditions such as stroke, tumor, or head injury. The remaining 70%-80% is believed to be due to one or more genetic factors.
Genetic testing has become standard for children with early-onset epilepsy, but it’s not common practice among adults with the condition — at least not yet.
The retrospective study involved a chart review of patient electronic health records from 2018-2023. Researchers used the Stanford electronic health record Cohort Discovery tool (STARR) database to identify 286 patients over age 16 years with epilepsy who had records of genetic testing.
Of the 286 patients, 148 were male and 138 female, and mean age was approximately 30 years. Among those with known epilepsy types, 53.6% had focal epilepsy and 28.8% had generalized epilpesy.
The mean age of seizure onset was 11.9 years, but the mean age at genetic testing was 25.1 years. “There’s a gap of about 13 or 14 years for genetic workup after a patient has a first seizure,” said Dr. Li.
Such a “huge delay” means patients may miss out on “potential precision treatment choices,” she said.
And having a diagnosis can connect patients to others with the same condition as well as to related organizations and communities that offer support, she added.
Types of genetic testing identified in the study included panel testing, which looks at the genes associated with epilepsy; whole exome sequencing (WES), which includes all 20,000 genes in one test; and microarray testing, which assesses missing sections of chromosomes. WES had the highest diagnostic yield (48%), followed by genetic panel testing (32.7%) and microarray testing (20.9%).
These tests collectively identified pathogenic variants in 40.9% of patients. In addition, test results showed that 53.10% of patients had variants of uncertain significance.
In the full cohort, the most commonly identified variants were mutations in TSC1 (which causes tuberous sclerosis, SCN1A (which causes Dravet syndrome), and MECP2. Among patients with seizure onset after age 1 year, MECP2 and DEPDC5 were the two most commonly identified pathogenic variants.
Researchers examined factors possibly associated with a higher risk for genetic epilepsy, including family history, comorbid developmental delay, febrile seizures, status epilepticus, perinatal injury, and seizure onset age. In an adjusted analysis, comorbid developmental delay (estimate 2.338; 95% confidence interval [CI], 1.402-3.900; P =.001) and seizure onset before 1 year (estimate 2.365; 95% CI, 1.282-4.366; P =.006) predicted higher yield of pathogenic variants related to epilepsy.
Dr. Li noted that study participants with a family history of epilepsy were not more likely to test positive for a genetic link, so doctors shouldn’t rule out testing in patients if there’s no family history.
Both the International League Against Epilepsy (ILAE) and the National Society of Genetic Counselors (NSGC) recommend genetic testing in adult epilepsy patients, with the AES endorsing the NSGC guideline.
Although testing is becoming increasingly accessible, insurance companies don’t always cover the cost.
Dr. Li said she hopes her research raises awareness among clinicians that there’s more they can do to improve care for epilepsy patients. “We should offer patients genetic testing if we don’t have a clear etiology.”
Valuable Evidence
Commenting on the research findings, Annapurna Poduri, MD, MPH, director, Epilepsy Genetics Program, Boston Children’s Hospital, Boston, Massachusetts, said this research “is incredibly important.”
“What’s really telling about this study and others that have come up over the last few years is they’re real-world retrospective studies, so they’re looking back at patients who have been seen over many, many years.”
The research provides clinicians, insurance companies, and others with evidence that genetic testing is “valuable and can actually improve outcomes,” said Dr. Poduri.
She noted that 20 years ago, there were only a handful of genes identified as being involved with epilepsy, most related to sodium or potassium channels. But since then, “the technology has just raced ahead” to the point where now “dozens of genes” have been identified.
Not only does knowing the genetic basis of epilepsy improve management, but it offers families some peace of mind. “They blame themselves” for their loved one’s condition, said Dr. Poduri. “They may worry it was something they did in pregnancy; for example, maybe it was because [they] didn’t take that vitamin one day.”
Diagnostic certainty also means that patients “don’t have to do more tests which might be invasive” and unnecessarily costly.
Drs. Li and Poduri report no relevant conflicts of interest.
A version of this article first appeared on Medscape.com.
FROM AES 2023
Dual treatment may boost efficacy in chronic migraine
, possibly owing to the synergistic mechanism of action of the two agents, a new study suggests.
“People with chronic migraine may be the toughest to treat. They have the greatest disability, and often insurance companies would prefer monotherapy, but in these patients, sometimes using a multifaceted approach and using different drugs that target different pathophysiologies of migraine can probably provide greater benefit in terms of reducing the frequency and severity of the headaches,” study investigator MaryAnn Mays, MD, staff neurologist at the Headache and Facial Pain Clinic in the Neurologic Institute, Cleveland Clinic, Cleveland, Ohio, said in an interview.
The findings were presented at the annual meeting of the American Headache Society.
Fewer Migraine Days
OnabotulinumtodxinA (onabot) has been shown to selectively inhibit unmyelinated C-fibers but not A-delta-meningeal nociceptors. Anti-CGRP mAb therapies have been shown to prevent the activation of A-delta-fibers but not C-fibers, said Dr. Mays.
For the study, the investigators reviewed the electronic medical records of 194 patients who had been concurrently treated with anti-CGRP mAbs and onabot. Most (86.6%) were women; ages ranged from 36 to 65 years, and at baseline, they had been having an average of 28 (+4.6) monthly migraine days (MMDs).
The number of MMDs were assessed at two periods: 3 months after monotherapy with an anti-CGRP mAb or onabot injections, and 3 months after combined therapy.
Monotherapy reduced the average number of MMDs from 28 to 18.6, for a reduction of 9.4 days (P > .0001).
After initiation of combined therapy, the average number of MMDs decreased further, from 18.6 MMDs to 12.1 MMDs (P > .0001).
In all, the combination of onabot and anti-CGRP mAbs resulted in a total MMD reduction of 15.8 (P > .0001).
In addition, most patients (68%) reported a 50% or greater reduction in MMDs, and 46.4% reported a 75% or greater reduction.
Great News for Patients
Commenting for this article, Rashmi B. Halker Singh, MD, associate professor of neurology at Mayo Clinic, Scottsdale, Arizona, said the study findings “support what we see in clinical practice and what we suspected from preclinical data.”
Single-agent treatment is not sufficient for many patients. Data confirming the benefit of dual therapy will provide more evidence to insurance companies of the need for coverage.
“We have lots of individuals for whom single treatment is not sufficient and who need this combination of treatment, and it is often denied by insurance. There are preclinical data suggesting synergy, but insurance says it is experimental, so the claims get denied. This leaves patients having to choose which drug they want to continue with, and that’s really heartbreaking,” Dr. Halker Singh said.
The importance of this study is that it adds more data to support evidence-based therapies for migraine and to help patients get the treatment they need, she added.
Dr. Mays reports financial relationships with AbbVie, Amgen, and Teva. Dr. Halker Singh reports no relevant financial relationships.
A version of this article appeared on Medscape.com.
, possibly owing to the synergistic mechanism of action of the two agents, a new study suggests.
“People with chronic migraine may be the toughest to treat. They have the greatest disability, and often insurance companies would prefer monotherapy, but in these patients, sometimes using a multifaceted approach and using different drugs that target different pathophysiologies of migraine can probably provide greater benefit in terms of reducing the frequency and severity of the headaches,” study investigator MaryAnn Mays, MD, staff neurologist at the Headache and Facial Pain Clinic in the Neurologic Institute, Cleveland Clinic, Cleveland, Ohio, said in an interview.
The findings were presented at the annual meeting of the American Headache Society.
Fewer Migraine Days
OnabotulinumtodxinA (onabot) has been shown to selectively inhibit unmyelinated C-fibers but not A-delta-meningeal nociceptors. Anti-CGRP mAb therapies have been shown to prevent the activation of A-delta-fibers but not C-fibers, said Dr. Mays.
For the study, the investigators reviewed the electronic medical records of 194 patients who had been concurrently treated with anti-CGRP mAbs and onabot. Most (86.6%) were women; ages ranged from 36 to 65 years, and at baseline, they had been having an average of 28 (+4.6) monthly migraine days (MMDs).
The number of MMDs were assessed at two periods: 3 months after monotherapy with an anti-CGRP mAb or onabot injections, and 3 months after combined therapy.
Monotherapy reduced the average number of MMDs from 28 to 18.6, for a reduction of 9.4 days (P > .0001).
After initiation of combined therapy, the average number of MMDs decreased further, from 18.6 MMDs to 12.1 MMDs (P > .0001).
In all, the combination of onabot and anti-CGRP mAbs resulted in a total MMD reduction of 15.8 (P > .0001).
In addition, most patients (68%) reported a 50% or greater reduction in MMDs, and 46.4% reported a 75% or greater reduction.
Great News for Patients
Commenting for this article, Rashmi B. Halker Singh, MD, associate professor of neurology at Mayo Clinic, Scottsdale, Arizona, said the study findings “support what we see in clinical practice and what we suspected from preclinical data.”
Single-agent treatment is not sufficient for many patients. Data confirming the benefit of dual therapy will provide more evidence to insurance companies of the need for coverage.
“We have lots of individuals for whom single treatment is not sufficient and who need this combination of treatment, and it is often denied by insurance. There are preclinical data suggesting synergy, but insurance says it is experimental, so the claims get denied. This leaves patients having to choose which drug they want to continue with, and that’s really heartbreaking,” Dr. Halker Singh said.
The importance of this study is that it adds more data to support evidence-based therapies for migraine and to help patients get the treatment they need, she added.
Dr. Mays reports financial relationships with AbbVie, Amgen, and Teva. Dr. Halker Singh reports no relevant financial relationships.
A version of this article appeared on Medscape.com.
, possibly owing to the synergistic mechanism of action of the two agents, a new study suggests.
“People with chronic migraine may be the toughest to treat. They have the greatest disability, and often insurance companies would prefer monotherapy, but in these patients, sometimes using a multifaceted approach and using different drugs that target different pathophysiologies of migraine can probably provide greater benefit in terms of reducing the frequency and severity of the headaches,” study investigator MaryAnn Mays, MD, staff neurologist at the Headache and Facial Pain Clinic in the Neurologic Institute, Cleveland Clinic, Cleveland, Ohio, said in an interview.
The findings were presented at the annual meeting of the American Headache Society.
Fewer Migraine Days
OnabotulinumtodxinA (onabot) has been shown to selectively inhibit unmyelinated C-fibers but not A-delta-meningeal nociceptors. Anti-CGRP mAb therapies have been shown to prevent the activation of A-delta-fibers but not C-fibers, said Dr. Mays.
For the study, the investigators reviewed the electronic medical records of 194 patients who had been concurrently treated with anti-CGRP mAbs and onabot. Most (86.6%) were women; ages ranged from 36 to 65 years, and at baseline, they had been having an average of 28 (+4.6) monthly migraine days (MMDs).
The number of MMDs were assessed at two periods: 3 months after monotherapy with an anti-CGRP mAb or onabot injections, and 3 months after combined therapy.
Monotherapy reduced the average number of MMDs from 28 to 18.6, for a reduction of 9.4 days (P > .0001).
After initiation of combined therapy, the average number of MMDs decreased further, from 18.6 MMDs to 12.1 MMDs (P > .0001).
In all, the combination of onabot and anti-CGRP mAbs resulted in a total MMD reduction of 15.8 (P > .0001).
In addition, most patients (68%) reported a 50% or greater reduction in MMDs, and 46.4% reported a 75% or greater reduction.
Great News for Patients
Commenting for this article, Rashmi B. Halker Singh, MD, associate professor of neurology at Mayo Clinic, Scottsdale, Arizona, said the study findings “support what we see in clinical practice and what we suspected from preclinical data.”
Single-agent treatment is not sufficient for many patients. Data confirming the benefit of dual therapy will provide more evidence to insurance companies of the need for coverage.
“We have lots of individuals for whom single treatment is not sufficient and who need this combination of treatment, and it is often denied by insurance. There are preclinical data suggesting synergy, but insurance says it is experimental, so the claims get denied. This leaves patients having to choose which drug they want to continue with, and that’s really heartbreaking,” Dr. Halker Singh said.
The importance of this study is that it adds more data to support evidence-based therapies for migraine and to help patients get the treatment they need, she added.
Dr. Mays reports financial relationships with AbbVie, Amgen, and Teva. Dr. Halker Singh reports no relevant financial relationships.
A version of this article appeared on Medscape.com.
FROM AHS 2023
Excessive TV-watching tied to elevated risk for dementia, Parkinson’s disease, and depression
TOPLINE:
whereas a limited amount of daily computer use that is not work-related is linked to a lower risk for dementia.
METHODOLOGY:
- Investigators analyzed data on 473,184 people aged 39-72 years from the UK Biobank who were enrolled from 2006 to 2010 and followed until a diagnosis of dementia, PD, depression, death, or study end (2018 for Wales residents; 2021 for residents of England and Scotland).
- Participants reported on the number of hours they spent outside of work exercising, watching television, and using the computer.
- MRI was conducted to determine participants’ brain volume.
TAKEAWAY:
- During the study, 6096 people developed dementia, 3000 developed PD, 23,600 developed depression, 1200 developed dementia and depression, and 486 developed PD and depression.
- Compared with those who watched TV for under 1 hour per day, those who reported watching 4 or more hours per day had a 28% higher risk for dementia (adjusted hazard ratio [aHR], 1.28; 95% CI, 1.17-1.39), a 35% higher risk for depression, (aHR, 1.35; 95% CI, 1.29-1.40) and a 16% greater risk for PD (aHR, 1.16; 95% CI, 1.03-1.29).
- However, moderate computer use outside of work seemed somewhat protective. Participants who used the computer for 30-60 minutes per day had lower risks for dementia (aHR, 0.68; 95% CI, 0.64-0.72), PD, (aHR, 0.86; 95% CI, 0.79-0.93), and depression (aHR, 0.85; 95% CI, 0.83-0.88) compared with those who reported the lowest levels of computer usage.
- Replacing 30 minutes per day of computer time with an equal amount of structured exercise was associated with decreased risk for dementia (aHR, 0.74; 95% CI, 0.85-0.95) and PD (aHR, 0.84; 95% CI, 0.78-0.90).
IN PRACTICE:
The association between extended periods of TV use and higher risk for PD and dementia could be explained by a lack of activity, the authors note. They add that sedentary behavior is, “associated with biomarkers of low-grade inflammation and changes in inflammation markers that could initiate and or worsen neuroinflammation and contribute to neurodegeneration.”
SOURCE:
Hanzhang Wu, PhD, of Tianjin University of Traditional Medicine in Tianjin, China, led the study, which was published online in the International Journal of Behavioral Nutrition and Physical Activity.
LIMITATIONS:
Screen behaviors were assessed using self-report measures, which is subject to recall bias. Also, there may have been variables confounding the findings for which investigators did not account.
DISCLOSURES:
The study was funded by the National Natural Science Foundation of China, the Tianjin Major Public Health Science and Technology Project, the National Health Commission of China, the Food Science and Technology Foundation of Chinese Institute of Food Science and Technology, the China Cohort Consortium, and the Chinese Nutrition Society Nutrition Research Foundation–DSM Research Fund, China. There were no disclosures reported.
Eve Bender has no relevant financial relationships.
A version of this article appeared on Medscape.com.
TOPLINE:
whereas a limited amount of daily computer use that is not work-related is linked to a lower risk for dementia.
METHODOLOGY:
- Investigators analyzed data on 473,184 people aged 39-72 years from the UK Biobank who were enrolled from 2006 to 2010 and followed until a diagnosis of dementia, PD, depression, death, or study end (2018 for Wales residents; 2021 for residents of England and Scotland).
- Participants reported on the number of hours they spent outside of work exercising, watching television, and using the computer.
- MRI was conducted to determine participants’ brain volume.
TAKEAWAY:
- During the study, 6096 people developed dementia, 3000 developed PD, 23,600 developed depression, 1200 developed dementia and depression, and 486 developed PD and depression.
- Compared with those who watched TV for under 1 hour per day, those who reported watching 4 or more hours per day had a 28% higher risk for dementia (adjusted hazard ratio [aHR], 1.28; 95% CI, 1.17-1.39), a 35% higher risk for depression, (aHR, 1.35; 95% CI, 1.29-1.40) and a 16% greater risk for PD (aHR, 1.16; 95% CI, 1.03-1.29).
- However, moderate computer use outside of work seemed somewhat protective. Participants who used the computer for 30-60 minutes per day had lower risks for dementia (aHR, 0.68; 95% CI, 0.64-0.72), PD, (aHR, 0.86; 95% CI, 0.79-0.93), and depression (aHR, 0.85; 95% CI, 0.83-0.88) compared with those who reported the lowest levels of computer usage.
- Replacing 30 minutes per day of computer time with an equal amount of structured exercise was associated with decreased risk for dementia (aHR, 0.74; 95% CI, 0.85-0.95) and PD (aHR, 0.84; 95% CI, 0.78-0.90).
IN PRACTICE:
The association between extended periods of TV use and higher risk for PD and dementia could be explained by a lack of activity, the authors note. They add that sedentary behavior is, “associated with biomarkers of low-grade inflammation and changes in inflammation markers that could initiate and or worsen neuroinflammation and contribute to neurodegeneration.”
SOURCE:
Hanzhang Wu, PhD, of Tianjin University of Traditional Medicine in Tianjin, China, led the study, which was published online in the International Journal of Behavioral Nutrition and Physical Activity.
LIMITATIONS:
Screen behaviors were assessed using self-report measures, which is subject to recall bias. Also, there may have been variables confounding the findings for which investigators did not account.
DISCLOSURES:
The study was funded by the National Natural Science Foundation of China, the Tianjin Major Public Health Science and Technology Project, the National Health Commission of China, the Food Science and Technology Foundation of Chinese Institute of Food Science and Technology, the China Cohort Consortium, and the Chinese Nutrition Society Nutrition Research Foundation–DSM Research Fund, China. There were no disclosures reported.
Eve Bender has no relevant financial relationships.
A version of this article appeared on Medscape.com.
TOPLINE:
whereas a limited amount of daily computer use that is not work-related is linked to a lower risk for dementia.
METHODOLOGY:
- Investigators analyzed data on 473,184 people aged 39-72 years from the UK Biobank who were enrolled from 2006 to 2010 and followed until a diagnosis of dementia, PD, depression, death, or study end (2018 for Wales residents; 2021 for residents of England and Scotland).
- Participants reported on the number of hours they spent outside of work exercising, watching television, and using the computer.
- MRI was conducted to determine participants’ brain volume.
TAKEAWAY:
- During the study, 6096 people developed dementia, 3000 developed PD, 23,600 developed depression, 1200 developed dementia and depression, and 486 developed PD and depression.
- Compared with those who watched TV for under 1 hour per day, those who reported watching 4 or more hours per day had a 28% higher risk for dementia (adjusted hazard ratio [aHR], 1.28; 95% CI, 1.17-1.39), a 35% higher risk for depression, (aHR, 1.35; 95% CI, 1.29-1.40) and a 16% greater risk for PD (aHR, 1.16; 95% CI, 1.03-1.29).
- However, moderate computer use outside of work seemed somewhat protective. Participants who used the computer for 30-60 minutes per day had lower risks for dementia (aHR, 0.68; 95% CI, 0.64-0.72), PD, (aHR, 0.86; 95% CI, 0.79-0.93), and depression (aHR, 0.85; 95% CI, 0.83-0.88) compared with those who reported the lowest levels of computer usage.
- Replacing 30 minutes per day of computer time with an equal amount of structured exercise was associated with decreased risk for dementia (aHR, 0.74; 95% CI, 0.85-0.95) and PD (aHR, 0.84; 95% CI, 0.78-0.90).
IN PRACTICE:
The association between extended periods of TV use and higher risk for PD and dementia could be explained by a lack of activity, the authors note. They add that sedentary behavior is, “associated with biomarkers of low-grade inflammation and changes in inflammation markers that could initiate and or worsen neuroinflammation and contribute to neurodegeneration.”
SOURCE:
Hanzhang Wu, PhD, of Tianjin University of Traditional Medicine in Tianjin, China, led the study, which was published online in the International Journal of Behavioral Nutrition and Physical Activity.
LIMITATIONS:
Screen behaviors were assessed using self-report measures, which is subject to recall bias. Also, there may have been variables confounding the findings for which investigators did not account.
DISCLOSURES:
The study was funded by the National Natural Science Foundation of China, the Tianjin Major Public Health Science and Technology Project, the National Health Commission of China, the Food Science and Technology Foundation of Chinese Institute of Food Science and Technology, the China Cohort Consortium, and the Chinese Nutrition Society Nutrition Research Foundation–DSM Research Fund, China. There were no disclosures reported.
Eve Bender has no relevant financial relationships.
A version of this article appeared on Medscape.com.
HER2+ Combo Shows Promise in Breast Cancer Brain Mets
SAN ANTONIO – (PFS) versus T-DM1 alone, according to results from the phase III HER2CLIMB-02 study. A subanalysis of patients with brain metastases at baseline also showed an improvement in this population.
Brain metastases are common HER2+ breast cancer, and this is associated with poor outcomes, according to Sara A. Hurvitz, MD, who presented the study at the San Antonio Breast Cancer Symposium. There are few treatment options available for this population.
“Adding tucatinib to TDM-1 significantly improved progression free survival in patients with previously treated HER2+ advanced disease. The types of adverse events were consistent with previous reporting, and this is the second randomized study which included patients with brain metastases to demonstrate that a tucatinib-based regimen delays disease progression in this disease setting,” said Dr. Hurvitz, professor and head of the division of hematology and oncology at the University of Washington Department of Medicine and senior vice president and director of the Clinical Research Division at Fred Hutchinson Cancer Center.
Both tucatinib and TDM-1 target the HER2 receptor. T-DM1 is an antibody-drug conjugate (ADC) of trastuzumab (Herceptin) and the drug emtansine that has received FDA approval as monotherapy for both early- and late-stage HER2-positive breast cancer. Tucatinib is a small-molecule HER2 inhibitor and has efficacy against disease progression in the central nervous system, which is unusual among HER2-targeted therapies.
The earlier HER2CLIMB trial showed improved outcomes among heavily pretreated patients — including those with brain metastases — when tucatinib was added to trastuzumab and capecitabine (Xeloda, Genentech). In 2020, the FDA approved the combination for advanced unresectable or metastatic HER2-positive breast cancer, including brain metastases.
To determine if tucatinib could also improve responses when combined with a trastuzumab-based ADC, the researchers randomized 463 patients to tucatinib plus T-DM1 or placebo plus T-DM1. Nearly half (44.1%) of patients had brain metastases at baseline. Over a median follow-up of 24.4 months, the combination group had a 24% lower risk of progression or death (hazard ratio [HR], 0.76; P = .0163) and a longer median progression-free survival (9.5 months versus 7.4 months).
The PFS benefit was also seen in patients with baseline brain metastases (HR, 0.64; 95% CI, 0.46-0.89]). An insufficient number of survival events had occurred at the interim analysis to determine OS at the time of the presentation.
There was no statistically significant difference in overall response rate in the intervention arm. Treatment-emergent adverse events (TEAEs) that were more common in the tucatinib arm included nausea (65.4% vs. 49.4%), diarrhea (56.7% vs. 26.6%), and fatigue (48.9% vs. 37.3%). Grade 3 or higher TEAEs in the tucatinib arm included alanine and aspartate aminotransferase elevations (16.5% for both), versus 2.6% in the control arm for both. TEAEs associated treatment discontinuation occurred among 22.1% in the tucatinib arm and 11.6% in the control arm. TEAEs that led to mortality occurred in 1.3% of the tucatinib group and 0.9% of the control arm.
“I think tucatinib really does contain level one evidence for use in the setting of CNS metastases. There’s not yet data that has replaced that, so I will continue to consider using it in the second line setting, as it’s currently indicated in the presence of brain metastases. Without brain metastases, based on [the DESTINY-Breast03 trial], I’d probably opt for [trastuzumab deroxtecan], which is still the standard,” said Dr. Hurvitz.
Following the talk, Valentina Guarneri, MD, PhD, served as a discussant. She underscored the clinical need for treatment of patients with brain metastases.
“Brain metastases represent a devastating event for our patients and remain an unmet need considering that all of these patients will eventually require local therapies, with potentially debilitating sequelae. Since optimal therapy for these patients should not be an afterthought, clinical trials taking the risk of including these patients must be valued,” said Dr. Guarneri, professor of oncology at the University of Padua in Italy.
She acknowledged the success of the dual HER2 inhibitor strategy, and said it opens up avenues for combinations with novel antibody-drug conjugates. “HER2CLIMB-02 is unlikely to change the current algorithm, but it reinforces the role of tucatinib in the treatment of HER2+ metastatic breast cancer. The data further support studies in the early disease setting aiming to prevent the development of brain metastases,” said Dr. Guarneri.
The study was funded by Seagen. Dr. Hurvitz has received research funding from Ambrx, Arvinas, AstraZeneca, Bayer, Celcuity, CytomX Therapeutics, Daiichi Sankyo, Dantari Inc., Dignitana, Genentech, (Roche), G1 Therapeutics, Gilead Sciences Inc., Greenwich LifeSciences Inc., GSK, Immunomedics, Eli Lilly and Company, Loxo Oncology, MacroGenics, Novartis, OBI Pharma Inc., Orinove Inc., Orum Therapeutics, Pfizer, Phoenix Molecular Designs, Pieris Pharmaceuticals Inc., Puma Biotechnology, Radius Health, Sanofi, Seagen, and Zymeworks; has received royalties from McGraw Hill, Sage Publications, Wiley, and Wolters Kluwer; has served on the data and safety monitoring board for Alliance Foundation Trials LLC, Atossa Therapeutics, and the Quantum Leap Healthcare Collaborative; and has received honoraria from the Vaniam Group and OncLive. Her husband holds stock in ROMTech. Dr. Guarneri has been a member of the advisory boards for AstraZeneca, Daiichi Sankyo, Eisai, Eli Lilly, Exact Sciences, Gilead, Merck Serono, MSD, Novartis, Pfizer, Olema Oncology, and Pierre Fabre. She has been an invited speaker for AstraZeneca, Daiichi Sankyo, Eli Lilly, Exact Sciences, Gilead, GSK Novartis, and Zentiva.
SAN ANTONIO – (PFS) versus T-DM1 alone, according to results from the phase III HER2CLIMB-02 study. A subanalysis of patients with brain metastases at baseline also showed an improvement in this population.
Brain metastases are common HER2+ breast cancer, and this is associated with poor outcomes, according to Sara A. Hurvitz, MD, who presented the study at the San Antonio Breast Cancer Symposium. There are few treatment options available for this population.
“Adding tucatinib to TDM-1 significantly improved progression free survival in patients with previously treated HER2+ advanced disease. The types of adverse events were consistent with previous reporting, and this is the second randomized study which included patients with brain metastases to demonstrate that a tucatinib-based regimen delays disease progression in this disease setting,” said Dr. Hurvitz, professor and head of the division of hematology and oncology at the University of Washington Department of Medicine and senior vice president and director of the Clinical Research Division at Fred Hutchinson Cancer Center.
Both tucatinib and TDM-1 target the HER2 receptor. T-DM1 is an antibody-drug conjugate (ADC) of trastuzumab (Herceptin) and the drug emtansine that has received FDA approval as monotherapy for both early- and late-stage HER2-positive breast cancer. Tucatinib is a small-molecule HER2 inhibitor and has efficacy against disease progression in the central nervous system, which is unusual among HER2-targeted therapies.
The earlier HER2CLIMB trial showed improved outcomes among heavily pretreated patients — including those with brain metastases — when tucatinib was added to trastuzumab and capecitabine (Xeloda, Genentech). In 2020, the FDA approved the combination for advanced unresectable or metastatic HER2-positive breast cancer, including brain metastases.
To determine if tucatinib could also improve responses when combined with a trastuzumab-based ADC, the researchers randomized 463 patients to tucatinib plus T-DM1 or placebo plus T-DM1. Nearly half (44.1%) of patients had brain metastases at baseline. Over a median follow-up of 24.4 months, the combination group had a 24% lower risk of progression or death (hazard ratio [HR], 0.76; P = .0163) and a longer median progression-free survival (9.5 months versus 7.4 months).
The PFS benefit was also seen in patients with baseline brain metastases (HR, 0.64; 95% CI, 0.46-0.89]). An insufficient number of survival events had occurred at the interim analysis to determine OS at the time of the presentation.
There was no statistically significant difference in overall response rate in the intervention arm. Treatment-emergent adverse events (TEAEs) that were more common in the tucatinib arm included nausea (65.4% vs. 49.4%), diarrhea (56.7% vs. 26.6%), and fatigue (48.9% vs. 37.3%). Grade 3 or higher TEAEs in the tucatinib arm included alanine and aspartate aminotransferase elevations (16.5% for both), versus 2.6% in the control arm for both. TEAEs associated treatment discontinuation occurred among 22.1% in the tucatinib arm and 11.6% in the control arm. TEAEs that led to mortality occurred in 1.3% of the tucatinib group and 0.9% of the control arm.
“I think tucatinib really does contain level one evidence for use in the setting of CNS metastases. There’s not yet data that has replaced that, so I will continue to consider using it in the second line setting, as it’s currently indicated in the presence of brain metastases. Without brain metastases, based on [the DESTINY-Breast03 trial], I’d probably opt for [trastuzumab deroxtecan], which is still the standard,” said Dr. Hurvitz.
Following the talk, Valentina Guarneri, MD, PhD, served as a discussant. She underscored the clinical need for treatment of patients with brain metastases.
“Brain metastases represent a devastating event for our patients and remain an unmet need considering that all of these patients will eventually require local therapies, with potentially debilitating sequelae. Since optimal therapy for these patients should not be an afterthought, clinical trials taking the risk of including these patients must be valued,” said Dr. Guarneri, professor of oncology at the University of Padua in Italy.
She acknowledged the success of the dual HER2 inhibitor strategy, and said it opens up avenues for combinations with novel antibody-drug conjugates. “HER2CLIMB-02 is unlikely to change the current algorithm, but it reinforces the role of tucatinib in the treatment of HER2+ metastatic breast cancer. The data further support studies in the early disease setting aiming to prevent the development of brain metastases,” said Dr. Guarneri.
The study was funded by Seagen. Dr. Hurvitz has received research funding from Ambrx, Arvinas, AstraZeneca, Bayer, Celcuity, CytomX Therapeutics, Daiichi Sankyo, Dantari Inc., Dignitana, Genentech, (Roche), G1 Therapeutics, Gilead Sciences Inc., Greenwich LifeSciences Inc., GSK, Immunomedics, Eli Lilly and Company, Loxo Oncology, MacroGenics, Novartis, OBI Pharma Inc., Orinove Inc., Orum Therapeutics, Pfizer, Phoenix Molecular Designs, Pieris Pharmaceuticals Inc., Puma Biotechnology, Radius Health, Sanofi, Seagen, and Zymeworks; has received royalties from McGraw Hill, Sage Publications, Wiley, and Wolters Kluwer; has served on the data and safety monitoring board for Alliance Foundation Trials LLC, Atossa Therapeutics, and the Quantum Leap Healthcare Collaborative; and has received honoraria from the Vaniam Group and OncLive. Her husband holds stock in ROMTech. Dr. Guarneri has been a member of the advisory boards for AstraZeneca, Daiichi Sankyo, Eisai, Eli Lilly, Exact Sciences, Gilead, Merck Serono, MSD, Novartis, Pfizer, Olema Oncology, and Pierre Fabre. She has been an invited speaker for AstraZeneca, Daiichi Sankyo, Eli Lilly, Exact Sciences, Gilead, GSK Novartis, and Zentiva.
SAN ANTONIO – (PFS) versus T-DM1 alone, according to results from the phase III HER2CLIMB-02 study. A subanalysis of patients with brain metastases at baseline also showed an improvement in this population.
Brain metastases are common HER2+ breast cancer, and this is associated with poor outcomes, according to Sara A. Hurvitz, MD, who presented the study at the San Antonio Breast Cancer Symposium. There are few treatment options available for this population.
“Adding tucatinib to TDM-1 significantly improved progression free survival in patients with previously treated HER2+ advanced disease. The types of adverse events were consistent with previous reporting, and this is the second randomized study which included patients with brain metastases to demonstrate that a tucatinib-based regimen delays disease progression in this disease setting,” said Dr. Hurvitz, professor and head of the division of hematology and oncology at the University of Washington Department of Medicine and senior vice president and director of the Clinical Research Division at Fred Hutchinson Cancer Center.
Both tucatinib and TDM-1 target the HER2 receptor. T-DM1 is an antibody-drug conjugate (ADC) of trastuzumab (Herceptin) and the drug emtansine that has received FDA approval as monotherapy for both early- and late-stage HER2-positive breast cancer. Tucatinib is a small-molecule HER2 inhibitor and has efficacy against disease progression in the central nervous system, which is unusual among HER2-targeted therapies.
The earlier HER2CLIMB trial showed improved outcomes among heavily pretreated patients — including those with brain metastases — when tucatinib was added to trastuzumab and capecitabine (Xeloda, Genentech). In 2020, the FDA approved the combination for advanced unresectable or metastatic HER2-positive breast cancer, including brain metastases.
To determine if tucatinib could also improve responses when combined with a trastuzumab-based ADC, the researchers randomized 463 patients to tucatinib plus T-DM1 or placebo plus T-DM1. Nearly half (44.1%) of patients had brain metastases at baseline. Over a median follow-up of 24.4 months, the combination group had a 24% lower risk of progression or death (hazard ratio [HR], 0.76; P = .0163) and a longer median progression-free survival (9.5 months versus 7.4 months).
The PFS benefit was also seen in patients with baseline brain metastases (HR, 0.64; 95% CI, 0.46-0.89]). An insufficient number of survival events had occurred at the interim analysis to determine OS at the time of the presentation.
There was no statistically significant difference in overall response rate in the intervention arm. Treatment-emergent adverse events (TEAEs) that were more common in the tucatinib arm included nausea (65.4% vs. 49.4%), diarrhea (56.7% vs. 26.6%), and fatigue (48.9% vs. 37.3%). Grade 3 or higher TEAEs in the tucatinib arm included alanine and aspartate aminotransferase elevations (16.5% for both), versus 2.6% in the control arm for both. TEAEs associated treatment discontinuation occurred among 22.1% in the tucatinib arm and 11.6% in the control arm. TEAEs that led to mortality occurred in 1.3% of the tucatinib group and 0.9% of the control arm.
“I think tucatinib really does contain level one evidence for use in the setting of CNS metastases. There’s not yet data that has replaced that, so I will continue to consider using it in the second line setting, as it’s currently indicated in the presence of brain metastases. Without brain metastases, based on [the DESTINY-Breast03 trial], I’d probably opt for [trastuzumab deroxtecan], which is still the standard,” said Dr. Hurvitz.
Following the talk, Valentina Guarneri, MD, PhD, served as a discussant. She underscored the clinical need for treatment of patients with brain metastases.
“Brain metastases represent a devastating event for our patients and remain an unmet need considering that all of these patients will eventually require local therapies, with potentially debilitating sequelae. Since optimal therapy for these patients should not be an afterthought, clinical trials taking the risk of including these patients must be valued,” said Dr. Guarneri, professor of oncology at the University of Padua in Italy.
She acknowledged the success of the dual HER2 inhibitor strategy, and said it opens up avenues for combinations with novel antibody-drug conjugates. “HER2CLIMB-02 is unlikely to change the current algorithm, but it reinforces the role of tucatinib in the treatment of HER2+ metastatic breast cancer. The data further support studies in the early disease setting aiming to prevent the development of brain metastases,” said Dr. Guarneri.
The study was funded by Seagen. Dr. Hurvitz has received research funding from Ambrx, Arvinas, AstraZeneca, Bayer, Celcuity, CytomX Therapeutics, Daiichi Sankyo, Dantari Inc., Dignitana, Genentech, (Roche), G1 Therapeutics, Gilead Sciences Inc., Greenwich LifeSciences Inc., GSK, Immunomedics, Eli Lilly and Company, Loxo Oncology, MacroGenics, Novartis, OBI Pharma Inc., Orinove Inc., Orum Therapeutics, Pfizer, Phoenix Molecular Designs, Pieris Pharmaceuticals Inc., Puma Biotechnology, Radius Health, Sanofi, Seagen, and Zymeworks; has received royalties from McGraw Hill, Sage Publications, Wiley, and Wolters Kluwer; has served on the data and safety monitoring board for Alliance Foundation Trials LLC, Atossa Therapeutics, and the Quantum Leap Healthcare Collaborative; and has received honoraria from the Vaniam Group and OncLive. Her husband holds stock in ROMTech. Dr. Guarneri has been a member of the advisory boards for AstraZeneca, Daiichi Sankyo, Eisai, Eli Lilly, Exact Sciences, Gilead, Merck Serono, MSD, Novartis, Pfizer, Olema Oncology, and Pierre Fabre. She has been an invited speaker for AstraZeneca, Daiichi Sankyo, Eli Lilly, Exact Sciences, Gilead, GSK Novartis, and Zentiva.
AT SABCS 2023
Medication overuse headache a pain to treat
BARCELONA, SPAIN — Around half of all patients with chronic headache or migraine overuse their medication, leading to aggravated or new types of headaches. “Medication overuse headache” is the third most frequent type of headache, affecting some 60 million people or around 1% of the world’s population.
“It’s a big problem,” Sait Ashina, MD, of Beth Israel Deaconess Medical Center, Boston, Massachusetts, told the audience in an opening plenary at the 17th European Headache Congress in Barcelona.
Medication overuse headache is characterized by an increasing headache frequency and progressive use of short-term medication and is recognized as a major factor in the shift from episodic to chronic headache.
It is often underrecognized; however, educating doctors and patients is a crucial element of effective treatment. Recognition that headache medication is being overused is a crucial first step to treatment, followed by advising the patient to discontinue the medication. But this poses its own problems, as it can cause withdrawal symptoms.
According to a longitudinal population-based study published in 2008, most patients overuse acetaminophen or paracetamol, followed by nonsteroidal anti-inflammatory drugs and 5-hydroxytriptamine agonists (triptans) and, in the United States, barbiturates and opioids.
What’s the Best Treatment Strategy?
Medication overuse headache is often treated by complete withdrawal from medication, but the withdrawal symptoms can be severe. They include nausea and vomiting, arterial hypertension, tachycardia, sleep disturbances, anxiety, and restlessness, with their duration and severity depending solely on the type of headache medication that has been overused.
There is, however, no consensus on how best to treat medication overuse headache — withdrawal plus preventive treatment, preventive treatment without withdrawal, and withdrawal with optional preventive treatment 2 months after withdrawal. The findings showed that all three strategies were effective. But the research team concluded that withdrawal combined with preventive medication from the start of withdrawal was the recommended approach.
The electronic headache diary has proved to be very useful, as it can aid accurate diagnosis by providing clear insights into a patient’s condition. Information from the diary is more reliable than self-reports because patients often underestimate the frequency of their headaches, migraines, and use of medication.
Patients who are treated for medication overuse headache tend to have a high relapse rate. So, the electronic headache diary can also be very useful for follow-up by alerting patients and clinicians when headaches and medication overuse are increasing again.
“After diagnosing medication overuse or medication overuse headache, we advise our patients to discontinue the medication,” said Judith Pijpers of Leiden University Medical School, the Netherlands. “This provides clinically relevant improvements in headache frequency in a majority of patients and a significant reduction in headache days.”
In 2019, Dr. Pijpers and her colleagues published the results of a double-blind randomized controlled trial showing that botulinum toxin A, which is widely used to treat chronic migraine, has no additional benefit over acute withdrawal in patients with chronic migraine and medication overuse.
“We saw no difference between the groups during both the double-blind and the open label phase,” said Dr. Pijpers. “And that is why we do not give patients botulinum toxin A during withdrawal.”
A further trial within the botox study showed modest benefits for behavioral intervention by a headache nurse comprising education, motivational interviewing, and value-based activity planning during withdrawal therapy.
Patients can be stratified to some extent based on the type of headache they have and the medication they are taking for it.
“You can predict [a patient’s response] to some extent from the type of medication they overuse and the type of underlying primary headache,” Dr. Pijpers said in an interview.
“Those with underlying tension-type headache have different withdrawal symptoms than those with underlying migraine, and the withdrawal symptoms tend to be somewhat shorter if a patient overuses triptans compared to analgesics.”
Predicting Patients’ Responses to Migraine Medication
Dr. Pijpers and her colleagues recently published the results of a cohort study suggesting that cutaneous allodynia may predict how patients with migraine respond to withdrawal therapy. Nearly 75% of the 173 patients enrolled in the study reported experiencing allodynia — pain caused by a stimulus that does not normally cause pain. The study showed that absence of allodynia was predictive of a good outcome for patients after withdrawal therapy and of reversion from chronic to episodic migraine.
The ability to accurately predict patients’ responses could pave the way for personalized treatments of medication overuse headache.
A version of this article appeared in Medscape.com.
BARCELONA, SPAIN — Around half of all patients with chronic headache or migraine overuse their medication, leading to aggravated or new types of headaches. “Medication overuse headache” is the third most frequent type of headache, affecting some 60 million people or around 1% of the world’s population.
“It’s a big problem,” Sait Ashina, MD, of Beth Israel Deaconess Medical Center, Boston, Massachusetts, told the audience in an opening plenary at the 17th European Headache Congress in Barcelona.
Medication overuse headache is characterized by an increasing headache frequency and progressive use of short-term medication and is recognized as a major factor in the shift from episodic to chronic headache.
It is often underrecognized; however, educating doctors and patients is a crucial element of effective treatment. Recognition that headache medication is being overused is a crucial first step to treatment, followed by advising the patient to discontinue the medication. But this poses its own problems, as it can cause withdrawal symptoms.
According to a longitudinal population-based study published in 2008, most patients overuse acetaminophen or paracetamol, followed by nonsteroidal anti-inflammatory drugs and 5-hydroxytriptamine agonists (triptans) and, in the United States, barbiturates and opioids.
What’s the Best Treatment Strategy?
Medication overuse headache is often treated by complete withdrawal from medication, but the withdrawal symptoms can be severe. They include nausea and vomiting, arterial hypertension, tachycardia, sleep disturbances, anxiety, and restlessness, with their duration and severity depending solely on the type of headache medication that has been overused.
There is, however, no consensus on how best to treat medication overuse headache — withdrawal plus preventive treatment, preventive treatment without withdrawal, and withdrawal with optional preventive treatment 2 months after withdrawal. The findings showed that all three strategies were effective. But the research team concluded that withdrawal combined with preventive medication from the start of withdrawal was the recommended approach.
The electronic headache diary has proved to be very useful, as it can aid accurate diagnosis by providing clear insights into a patient’s condition. Information from the diary is more reliable than self-reports because patients often underestimate the frequency of their headaches, migraines, and use of medication.
Patients who are treated for medication overuse headache tend to have a high relapse rate. So, the electronic headache diary can also be very useful for follow-up by alerting patients and clinicians when headaches and medication overuse are increasing again.
“After diagnosing medication overuse or medication overuse headache, we advise our patients to discontinue the medication,” said Judith Pijpers of Leiden University Medical School, the Netherlands. “This provides clinically relevant improvements in headache frequency in a majority of patients and a significant reduction in headache days.”
In 2019, Dr. Pijpers and her colleagues published the results of a double-blind randomized controlled trial showing that botulinum toxin A, which is widely used to treat chronic migraine, has no additional benefit over acute withdrawal in patients with chronic migraine and medication overuse.
“We saw no difference between the groups during both the double-blind and the open label phase,” said Dr. Pijpers. “And that is why we do not give patients botulinum toxin A during withdrawal.”
A further trial within the botox study showed modest benefits for behavioral intervention by a headache nurse comprising education, motivational interviewing, and value-based activity planning during withdrawal therapy.
Patients can be stratified to some extent based on the type of headache they have and the medication they are taking for it.
“You can predict [a patient’s response] to some extent from the type of medication they overuse and the type of underlying primary headache,” Dr. Pijpers said in an interview.
“Those with underlying tension-type headache have different withdrawal symptoms than those with underlying migraine, and the withdrawal symptoms tend to be somewhat shorter if a patient overuses triptans compared to analgesics.”
Predicting Patients’ Responses to Migraine Medication
Dr. Pijpers and her colleagues recently published the results of a cohort study suggesting that cutaneous allodynia may predict how patients with migraine respond to withdrawal therapy. Nearly 75% of the 173 patients enrolled in the study reported experiencing allodynia — pain caused by a stimulus that does not normally cause pain. The study showed that absence of allodynia was predictive of a good outcome for patients after withdrawal therapy and of reversion from chronic to episodic migraine.
The ability to accurately predict patients’ responses could pave the way for personalized treatments of medication overuse headache.
A version of this article appeared in Medscape.com.
BARCELONA, SPAIN — Around half of all patients with chronic headache or migraine overuse their medication, leading to aggravated or new types of headaches. “Medication overuse headache” is the third most frequent type of headache, affecting some 60 million people or around 1% of the world’s population.
“It’s a big problem,” Sait Ashina, MD, of Beth Israel Deaconess Medical Center, Boston, Massachusetts, told the audience in an opening plenary at the 17th European Headache Congress in Barcelona.
Medication overuse headache is characterized by an increasing headache frequency and progressive use of short-term medication and is recognized as a major factor in the shift from episodic to chronic headache.
It is often underrecognized; however, educating doctors and patients is a crucial element of effective treatment. Recognition that headache medication is being overused is a crucial first step to treatment, followed by advising the patient to discontinue the medication. But this poses its own problems, as it can cause withdrawal symptoms.
According to a longitudinal population-based study published in 2008, most patients overuse acetaminophen or paracetamol, followed by nonsteroidal anti-inflammatory drugs and 5-hydroxytriptamine agonists (triptans) and, in the United States, barbiturates and opioids.
What’s the Best Treatment Strategy?
Medication overuse headache is often treated by complete withdrawal from medication, but the withdrawal symptoms can be severe. They include nausea and vomiting, arterial hypertension, tachycardia, sleep disturbances, anxiety, and restlessness, with their duration and severity depending solely on the type of headache medication that has been overused.
There is, however, no consensus on how best to treat medication overuse headache — withdrawal plus preventive treatment, preventive treatment without withdrawal, and withdrawal with optional preventive treatment 2 months after withdrawal. The findings showed that all three strategies were effective. But the research team concluded that withdrawal combined with preventive medication from the start of withdrawal was the recommended approach.
The electronic headache diary has proved to be very useful, as it can aid accurate diagnosis by providing clear insights into a patient’s condition. Information from the diary is more reliable than self-reports because patients often underestimate the frequency of their headaches, migraines, and use of medication.
Patients who are treated for medication overuse headache tend to have a high relapse rate. So, the electronic headache diary can also be very useful for follow-up by alerting patients and clinicians when headaches and medication overuse are increasing again.
“After diagnosing medication overuse or medication overuse headache, we advise our patients to discontinue the medication,” said Judith Pijpers of Leiden University Medical School, the Netherlands. “This provides clinically relevant improvements in headache frequency in a majority of patients and a significant reduction in headache days.”
In 2019, Dr. Pijpers and her colleagues published the results of a double-blind randomized controlled trial showing that botulinum toxin A, which is widely used to treat chronic migraine, has no additional benefit over acute withdrawal in patients with chronic migraine and medication overuse.
“We saw no difference between the groups during both the double-blind and the open label phase,” said Dr. Pijpers. “And that is why we do not give patients botulinum toxin A during withdrawal.”
A further trial within the botox study showed modest benefits for behavioral intervention by a headache nurse comprising education, motivational interviewing, and value-based activity planning during withdrawal therapy.
Patients can be stratified to some extent based on the type of headache they have and the medication they are taking for it.
“You can predict [a patient’s response] to some extent from the type of medication they overuse and the type of underlying primary headache,” Dr. Pijpers said in an interview.
“Those with underlying tension-type headache have different withdrawal symptoms than those with underlying migraine, and the withdrawal symptoms tend to be somewhat shorter if a patient overuses triptans compared to analgesics.”
Predicting Patients’ Responses to Migraine Medication
Dr. Pijpers and her colleagues recently published the results of a cohort study suggesting that cutaneous allodynia may predict how patients with migraine respond to withdrawal therapy. Nearly 75% of the 173 patients enrolled in the study reported experiencing allodynia — pain caused by a stimulus that does not normally cause pain. The study showed that absence of allodynia was predictive of a good outcome for patients after withdrawal therapy and of reversion from chronic to episodic migraine.
The ability to accurately predict patients’ responses could pave the way for personalized treatments of medication overuse headache.
A version of this article appeared in Medscape.com.
FROM EHC 2023
Compelling case for skipping RT in some early breast cancers
Results of the PROSPECT trial provide compelling evidence that high-quality preoperative MRI in combination with postoperative analysis of pathologic features can identify a substantial subset of women with localized early breast cancer who could safely skip radiation therapy.
(1%) at 5 years, reported lead investigator Gregory Bruce Mann, MBBS, PhD, of The Royal Women’s Hospital, Melbourne, Australia, at the San Antonio Breast Cancer Symposium (abstract PS02-03).
Additionally, women who skipped radiation had superior health-related quality of life relative to peers who underwent the treatment and, quite unexpectedly, their fear of cancer recurrence was “dramatically reduced,” Dr, Mann said in an interview.
“The hypothesis was that less treatment [would] lead to more fear of cancer recurrence” because patients would worry that they hadn’t received standard treatment, “but patients who omitted RT actually had less fear of cancer recurrence,” he said.
This may come down to positive perceptions about tailored care and trust, he explained. “If the patient got the impression that the doctor wasn’t worried about recurrence, then the patient wasn’t worried. If they trusted you and you had that relationship with the patient, they were less likely to experience a fear of recurrence.”
Results of the PROSPECT trial were published online on December 5 in The Lancet.
PROSPECT was a prospective, nonrandomized study that evaluated whether preoperative bilateral contrast-enhanced 3-Tesla breast MRI and postoperative tumor pathology could identify patients with “truly localized” disease who might feasibly skip radiation therapy after breast-conserving surgery.
The researchers hypothesised that radiation therapy reduces local recurrence risk by treating occult synchronous disease that has not been identified by conventional imaging techniques. Exclusion of such occult disease using preoperative MRI, in association with low-risk pathology, could define a group of patients with early breast cancer in whom radiation can be omitted without substantially compromising local recurrence rates.
Women aged 50 years or older with cT1N0 non–triple-negative breast cancer were eligible for the trial. Among 443 patients, preoperative MRI detected 61 malignant occult lesions separate from the index cancer in 48 patients (11%) of the total cohort.
Patients with apparently unifocal cancer had breast-conserving surgery and, if pT1N0 or N1mi, did not undergo radiation therapy (group 1: 201 women). Standard treatment including radiation therapy was offered to the others (group 2: 242 women). All women were recommended for systemic therapy. The primary endpoint was the ipsilateral invasive recurrence rate at 5 years, with follow-up to continue to 10 years.
At a median follow-up of 5.4 years, the ipsilateral invasive recurrence rate in group 1 was exceedingly low — just 1.0% (upper 95% CI, 5.4%) — with one local recurrence at 4.5 years and a second at 7.5 years. In group 2, local recurrence at 5 years was also low, at 1.7% (upper 95% CI, 6.1%).
The only case of distant metastasis in the entire cohort was genetically distinct from the index cancer.
Omitting radiation therapy led to better health-related quality of life and functional and cosmetic outcomes, and the women viewed not having radiation as highly acceptable and appropriate treatment, not undertreatment.
PROSPECT has defined a role for “very high quality” preoperative MRI in identifying patients who can be considered for deintensified treatment, Dr. Mann said.
The findings need to be replicated in multicenter, international trials, “and that’s what we are working on,” he added.
Risk Tolerance and Personal Preferences
Writing in a comment for The Lancet, Lior Z. Braunstein, MD, with Memorial Sloan Kettering Cancer Center in New York, says that overall, PROSPECT and comparable trials of radiation therapy omission, “rather than setting uniform clinical practice, will empower patients to delineate their individual risk tolerance and personal preferences.”
He notes, however, that “the use of preoperative MRI among patients at low risk remains somewhat controversial. Indeed, the MRI intervention in PROSPECT was not entirely benign, prompting nearly 200 biopsies and five of the nine observed mastectomies.”
Dr. Braunstein concludes that with numerous approaches to risk profiling, “informed patients might very reasonably choose differing paths. Indeed, it is precisely this individualized approach to breast cancer management that has long been the promise of personalized medicine — PROSPECT adds laudably to that tradition.”
Funding for the trial was provided by Breast Cancer Trials, National Breast Cancer Foundation, Cancer Council Victoria, the Royal Melbourne Hospital Foundation, and the Breast Cancer Research Foundation. Dr. Mann and Dr. Braunstein have no relevant disclosures.Megan Brooks has disclosed no relevant financial relationships.
A version of this article appeared on Medscape.com.
Results of the PROSPECT trial provide compelling evidence that high-quality preoperative MRI in combination with postoperative analysis of pathologic features can identify a substantial subset of women with localized early breast cancer who could safely skip radiation therapy.
(1%) at 5 years, reported lead investigator Gregory Bruce Mann, MBBS, PhD, of The Royal Women’s Hospital, Melbourne, Australia, at the San Antonio Breast Cancer Symposium (abstract PS02-03).
Additionally, women who skipped radiation had superior health-related quality of life relative to peers who underwent the treatment and, quite unexpectedly, their fear of cancer recurrence was “dramatically reduced,” Dr, Mann said in an interview.
“The hypothesis was that less treatment [would] lead to more fear of cancer recurrence” because patients would worry that they hadn’t received standard treatment, “but patients who omitted RT actually had less fear of cancer recurrence,” he said.
This may come down to positive perceptions about tailored care and trust, he explained. “If the patient got the impression that the doctor wasn’t worried about recurrence, then the patient wasn’t worried. If they trusted you and you had that relationship with the patient, they were less likely to experience a fear of recurrence.”
Results of the PROSPECT trial were published online on December 5 in The Lancet.
PROSPECT was a prospective, nonrandomized study that evaluated whether preoperative bilateral contrast-enhanced 3-Tesla breast MRI and postoperative tumor pathology could identify patients with “truly localized” disease who might feasibly skip radiation therapy after breast-conserving surgery.
The researchers hypothesised that radiation therapy reduces local recurrence risk by treating occult synchronous disease that has not been identified by conventional imaging techniques. Exclusion of such occult disease using preoperative MRI, in association with low-risk pathology, could define a group of patients with early breast cancer in whom radiation can be omitted without substantially compromising local recurrence rates.
Women aged 50 years or older with cT1N0 non–triple-negative breast cancer were eligible for the trial. Among 443 patients, preoperative MRI detected 61 malignant occult lesions separate from the index cancer in 48 patients (11%) of the total cohort.
Patients with apparently unifocal cancer had breast-conserving surgery and, if pT1N0 or N1mi, did not undergo radiation therapy (group 1: 201 women). Standard treatment including radiation therapy was offered to the others (group 2: 242 women). All women were recommended for systemic therapy. The primary endpoint was the ipsilateral invasive recurrence rate at 5 years, with follow-up to continue to 10 years.
At a median follow-up of 5.4 years, the ipsilateral invasive recurrence rate in group 1 was exceedingly low — just 1.0% (upper 95% CI, 5.4%) — with one local recurrence at 4.5 years and a second at 7.5 years. In group 2, local recurrence at 5 years was also low, at 1.7% (upper 95% CI, 6.1%).
The only case of distant metastasis in the entire cohort was genetically distinct from the index cancer.
Omitting radiation therapy led to better health-related quality of life and functional and cosmetic outcomes, and the women viewed not having radiation as highly acceptable and appropriate treatment, not undertreatment.
PROSPECT has defined a role for “very high quality” preoperative MRI in identifying patients who can be considered for deintensified treatment, Dr. Mann said.
The findings need to be replicated in multicenter, international trials, “and that’s what we are working on,” he added.
Risk Tolerance and Personal Preferences
Writing in a comment for The Lancet, Lior Z. Braunstein, MD, with Memorial Sloan Kettering Cancer Center in New York, says that overall, PROSPECT and comparable trials of radiation therapy omission, “rather than setting uniform clinical practice, will empower patients to delineate their individual risk tolerance and personal preferences.”
He notes, however, that “the use of preoperative MRI among patients at low risk remains somewhat controversial. Indeed, the MRI intervention in PROSPECT was not entirely benign, prompting nearly 200 biopsies and five of the nine observed mastectomies.”
Dr. Braunstein concludes that with numerous approaches to risk profiling, “informed patients might very reasonably choose differing paths. Indeed, it is precisely this individualized approach to breast cancer management that has long been the promise of personalized medicine — PROSPECT adds laudably to that tradition.”
Funding for the trial was provided by Breast Cancer Trials, National Breast Cancer Foundation, Cancer Council Victoria, the Royal Melbourne Hospital Foundation, and the Breast Cancer Research Foundation. Dr. Mann and Dr. Braunstein have no relevant disclosures.Megan Brooks has disclosed no relevant financial relationships.
A version of this article appeared on Medscape.com.
Results of the PROSPECT trial provide compelling evidence that high-quality preoperative MRI in combination with postoperative analysis of pathologic features can identify a substantial subset of women with localized early breast cancer who could safely skip radiation therapy.
(1%) at 5 years, reported lead investigator Gregory Bruce Mann, MBBS, PhD, of The Royal Women’s Hospital, Melbourne, Australia, at the San Antonio Breast Cancer Symposium (abstract PS02-03).
Additionally, women who skipped radiation had superior health-related quality of life relative to peers who underwent the treatment and, quite unexpectedly, their fear of cancer recurrence was “dramatically reduced,” Dr, Mann said in an interview.
“The hypothesis was that less treatment [would] lead to more fear of cancer recurrence” because patients would worry that they hadn’t received standard treatment, “but patients who omitted RT actually had less fear of cancer recurrence,” he said.
This may come down to positive perceptions about tailored care and trust, he explained. “If the patient got the impression that the doctor wasn’t worried about recurrence, then the patient wasn’t worried. If they trusted you and you had that relationship with the patient, they were less likely to experience a fear of recurrence.”
Results of the PROSPECT trial were published online on December 5 in The Lancet.
PROSPECT was a prospective, nonrandomized study that evaluated whether preoperative bilateral contrast-enhanced 3-Tesla breast MRI and postoperative tumor pathology could identify patients with “truly localized” disease who might feasibly skip radiation therapy after breast-conserving surgery.
The researchers hypothesised that radiation therapy reduces local recurrence risk by treating occult synchronous disease that has not been identified by conventional imaging techniques. Exclusion of such occult disease using preoperative MRI, in association with low-risk pathology, could define a group of patients with early breast cancer in whom radiation can be omitted without substantially compromising local recurrence rates.
Women aged 50 years or older with cT1N0 non–triple-negative breast cancer were eligible for the trial. Among 443 patients, preoperative MRI detected 61 malignant occult lesions separate from the index cancer in 48 patients (11%) of the total cohort.
Patients with apparently unifocal cancer had breast-conserving surgery and, if pT1N0 or N1mi, did not undergo radiation therapy (group 1: 201 women). Standard treatment including radiation therapy was offered to the others (group 2: 242 women). All women were recommended for systemic therapy. The primary endpoint was the ipsilateral invasive recurrence rate at 5 years, with follow-up to continue to 10 years.
At a median follow-up of 5.4 years, the ipsilateral invasive recurrence rate in group 1 was exceedingly low — just 1.0% (upper 95% CI, 5.4%) — with one local recurrence at 4.5 years and a second at 7.5 years. In group 2, local recurrence at 5 years was also low, at 1.7% (upper 95% CI, 6.1%).
The only case of distant metastasis in the entire cohort was genetically distinct from the index cancer.
Omitting radiation therapy led to better health-related quality of life and functional and cosmetic outcomes, and the women viewed not having radiation as highly acceptable and appropriate treatment, not undertreatment.
PROSPECT has defined a role for “very high quality” preoperative MRI in identifying patients who can be considered for deintensified treatment, Dr. Mann said.
The findings need to be replicated in multicenter, international trials, “and that’s what we are working on,” he added.
Risk Tolerance and Personal Preferences
Writing in a comment for The Lancet, Lior Z. Braunstein, MD, with Memorial Sloan Kettering Cancer Center in New York, says that overall, PROSPECT and comparable trials of radiation therapy omission, “rather than setting uniform clinical practice, will empower patients to delineate their individual risk tolerance and personal preferences.”
He notes, however, that “the use of preoperative MRI among patients at low risk remains somewhat controversial. Indeed, the MRI intervention in PROSPECT was not entirely benign, prompting nearly 200 biopsies and five of the nine observed mastectomies.”
Dr. Braunstein concludes that with numerous approaches to risk profiling, “informed patients might very reasonably choose differing paths. Indeed, it is precisely this individualized approach to breast cancer management that has long been the promise of personalized medicine — PROSPECT adds laudably to that tradition.”
Funding for the trial was provided by Breast Cancer Trials, National Breast Cancer Foundation, Cancer Council Victoria, the Royal Melbourne Hospital Foundation, and the Breast Cancer Research Foundation. Dr. Mann and Dr. Braunstein have no relevant disclosures.Megan Brooks has disclosed no relevant financial relationships.
A version of this article appeared on Medscape.com.
FROM SABCS 2023
Global measles deaths increased by 43% in 2022
The number of total reported cases rose by 18% over the same period, accounting for approximately 9 million cases and 136,000 deaths globally, mostly among children. This information comes from a new report by the World Health Organization (WHO), published in partnership with the US Centers for Disease Control and Prevention (CDC).
More Measles Outbreaks
The report also notes an increase in the number of countries experiencing significant measles outbreaks. There were 37 such countries in 2022, compared with 22 the previous year. The most affected continents were Africa and Asia.
“The rise in measles outbreaks and deaths is impressive but, unfortunately, not surprising, given the decline in vaccination rates in recent years,” said John Vertefeuille, PhD, director of the CDC’s Global Immunization Division.
Vertefeuille emphasized that measles cases anywhere in the world pose a risk to “countries and communities where people are undervaccinated.” In recent years, several regions have fallen short of their immunization targets.
Vaccination Trends
In 2022, there was a slight increase in measles vaccination after a decline exacerbated by the COVID-19 pandemic and its impact on global healthcare systems. However, 33 million children did not receive at least one dose of the vaccine last year: 22 million missed the first dose, and 11 million missed the second.
For communities to be considered protected against outbreaks, immunization coverage with the full vaccine cycle should be at least 95%. The global coverage rate for the first dose was 83%, and for the second, it was 74%.
Nevertheless, immunization recovery has not reached the poorest countries, where the immunization rate stands at 66%. Brazil is among the top 10 countries where more children missed the first dose in 2022. These nations account for over half of the 22 million unadministered vaccines. According to the report, half a million children did not receive the vaccine in Brazil.
Measles in Brazil
Brazil’s results highlight setbacks in vaccination efforts. In 2016, the country was certified to have eliminated measles, but after experiencing outbreaks in 2018, the certification was lost in 2019. In 2018, Brazil confirmed 9325 cases. The situation worsened in 2019 with 20,901 diagnoses. Since then, numbers have been decreasing: 8100 in 2020, 676 in 2021, and 44 in 2022.
Last year, four Brazilian states reported confirmed virus cases: Rio de Janeiro, Pará, São Paulo, and Amapá. Ministry of Health data indicated no confirmed measles cases in Brazil as of June 15, 2023.
Vaccination in Brazil
Vaccination coverage in Brazil, which once reached 95%, has sharply declined in recent years. The rate of patients receiving the full immunization scheme was 59% in 2021.
Globally, although the COVID-19 pandemic affected measles vaccination, measures like social isolation and mask use potentially contributed to reducing measles cases. The incidence of the disease decreased in 2020 and 2021 but is now rising again.
“From 2021 to 2022, reported measles cases increased by 67% worldwide, and the number of countries experiencing large or disruptive outbreaks increased by 68%,” the report stated.
Because of these data, the WHO and the CDC urge increased efforts for vaccination, along with improvements in epidemiological surveillance systems, especially in developing nations. “Children everywhere have the right to be protected by the lifesaving measles vaccine, no matter where they live,” said Kate O’Brien, MD, director of immunization, vaccines, and biologicals at the WHO.
“Measles is called the virus of inequality for a good reason. It is the disease that will find and attack those who are not protected.”
This article was translated from the Medscape Portuguese edition.
The number of total reported cases rose by 18% over the same period, accounting for approximately 9 million cases and 136,000 deaths globally, mostly among children. This information comes from a new report by the World Health Organization (WHO), published in partnership with the US Centers for Disease Control and Prevention (CDC).
More Measles Outbreaks
The report also notes an increase in the number of countries experiencing significant measles outbreaks. There were 37 such countries in 2022, compared with 22 the previous year. The most affected continents were Africa and Asia.
“The rise in measles outbreaks and deaths is impressive but, unfortunately, not surprising, given the decline in vaccination rates in recent years,” said John Vertefeuille, PhD, director of the CDC’s Global Immunization Division.
Vertefeuille emphasized that measles cases anywhere in the world pose a risk to “countries and communities where people are undervaccinated.” In recent years, several regions have fallen short of their immunization targets.
Vaccination Trends
In 2022, there was a slight increase in measles vaccination after a decline exacerbated by the COVID-19 pandemic and its impact on global healthcare systems. However, 33 million children did not receive at least one dose of the vaccine last year: 22 million missed the first dose, and 11 million missed the second.
For communities to be considered protected against outbreaks, immunization coverage with the full vaccine cycle should be at least 95%. The global coverage rate for the first dose was 83%, and for the second, it was 74%.
Nevertheless, immunization recovery has not reached the poorest countries, where the immunization rate stands at 66%. Brazil is among the top 10 countries where more children missed the first dose in 2022. These nations account for over half of the 22 million unadministered vaccines. According to the report, half a million children did not receive the vaccine in Brazil.
Measles in Brazil
Brazil’s results highlight setbacks in vaccination efforts. In 2016, the country was certified to have eliminated measles, but after experiencing outbreaks in 2018, the certification was lost in 2019. In 2018, Brazil confirmed 9325 cases. The situation worsened in 2019 with 20,901 diagnoses. Since then, numbers have been decreasing: 8100 in 2020, 676 in 2021, and 44 in 2022.
Last year, four Brazilian states reported confirmed virus cases: Rio de Janeiro, Pará, São Paulo, and Amapá. Ministry of Health data indicated no confirmed measles cases in Brazil as of June 15, 2023.
Vaccination in Brazil
Vaccination coverage in Brazil, which once reached 95%, has sharply declined in recent years. The rate of patients receiving the full immunization scheme was 59% in 2021.
Globally, although the COVID-19 pandemic affected measles vaccination, measures like social isolation and mask use potentially contributed to reducing measles cases. The incidence of the disease decreased in 2020 and 2021 but is now rising again.
“From 2021 to 2022, reported measles cases increased by 67% worldwide, and the number of countries experiencing large or disruptive outbreaks increased by 68%,” the report stated.
Because of these data, the WHO and the CDC urge increased efforts for vaccination, along with improvements in epidemiological surveillance systems, especially in developing nations. “Children everywhere have the right to be protected by the lifesaving measles vaccine, no matter where they live,” said Kate O’Brien, MD, director of immunization, vaccines, and biologicals at the WHO.
“Measles is called the virus of inequality for a good reason. It is the disease that will find and attack those who are not protected.”
This article was translated from the Medscape Portuguese edition.
The number of total reported cases rose by 18% over the same period, accounting for approximately 9 million cases and 136,000 deaths globally, mostly among children. This information comes from a new report by the World Health Organization (WHO), published in partnership with the US Centers for Disease Control and Prevention (CDC).
More Measles Outbreaks
The report also notes an increase in the number of countries experiencing significant measles outbreaks. There were 37 such countries in 2022, compared with 22 the previous year. The most affected continents were Africa and Asia.
“The rise in measles outbreaks and deaths is impressive but, unfortunately, not surprising, given the decline in vaccination rates in recent years,” said John Vertefeuille, PhD, director of the CDC’s Global Immunization Division.
Vertefeuille emphasized that measles cases anywhere in the world pose a risk to “countries and communities where people are undervaccinated.” In recent years, several regions have fallen short of their immunization targets.
Vaccination Trends
In 2022, there was a slight increase in measles vaccination after a decline exacerbated by the COVID-19 pandemic and its impact on global healthcare systems. However, 33 million children did not receive at least one dose of the vaccine last year: 22 million missed the first dose, and 11 million missed the second.
For communities to be considered protected against outbreaks, immunization coverage with the full vaccine cycle should be at least 95%. The global coverage rate for the first dose was 83%, and for the second, it was 74%.
Nevertheless, immunization recovery has not reached the poorest countries, where the immunization rate stands at 66%. Brazil is among the top 10 countries where more children missed the first dose in 2022. These nations account for over half of the 22 million unadministered vaccines. According to the report, half a million children did not receive the vaccine in Brazil.
Measles in Brazil
Brazil’s results highlight setbacks in vaccination efforts. In 2016, the country was certified to have eliminated measles, but after experiencing outbreaks in 2018, the certification was lost in 2019. In 2018, Brazil confirmed 9325 cases. The situation worsened in 2019 with 20,901 diagnoses. Since then, numbers have been decreasing: 8100 in 2020, 676 in 2021, and 44 in 2022.
Last year, four Brazilian states reported confirmed virus cases: Rio de Janeiro, Pará, São Paulo, and Amapá. Ministry of Health data indicated no confirmed measles cases in Brazil as of June 15, 2023.
Vaccination in Brazil
Vaccination coverage in Brazil, which once reached 95%, has sharply declined in recent years. The rate of patients receiving the full immunization scheme was 59% in 2021.
Globally, although the COVID-19 pandemic affected measles vaccination, measures like social isolation and mask use potentially contributed to reducing measles cases. The incidence of the disease decreased in 2020 and 2021 but is now rising again.
“From 2021 to 2022, reported measles cases increased by 67% worldwide, and the number of countries experiencing large or disruptive outbreaks increased by 68%,” the report stated.
Because of these data, the WHO and the CDC urge increased efforts for vaccination, along with improvements in epidemiological surveillance systems, especially in developing nations. “Children everywhere have the right to be protected by the lifesaving measles vaccine, no matter where they live,” said Kate O’Brien, MD, director of immunization, vaccines, and biologicals at the WHO.
“Measles is called the virus of inequality for a good reason. It is the disease that will find and attack those who are not protected.”
This article was translated from the Medscape Portuguese edition.
Combined rituximab and omalizumab promising for refractory bullous pemphigoid
who do not respond to rituximab alone, results of a case series suggest.
Bullous pemphigoid (BP) is a rare, chronic, inflammatory, blistering disease that mainly occurs in people in their 50s through their 70s. BP has high morbidity and mortality, especially in people with comorbidities common to the elderly, yet no Food and Drug Administration–approved therapies for BP exist, Stephanie T. Le, MD, a dermatologist in the department of dermatology of the University of California, Davis, told this publication.
“BP is typically thought of as an IgG-mediated disease, but many BP patients also have elevated levels of total circulating IgE levels, which has been linked to hallmarks of bullous pemphigoid, including blisters,” Dr. Le said. “These findings suggest that ideal BP treatments, such as rituximab and omalizumab, should target both IgG and IgE.”
In a study published in JAMA Dermatology, Dr. Le and her coauthors analyzed the electronic medical record data of adult patients with BP who were treated with combined rituximab and omalizumab at UC Davis between 2015 and 2022. The 10 patients who met their selection criteria averaged 62 years of age. Most were female, and most were non-Hispanic White. All had severe BP, with an initial mean BP Disease Area index score of 170, and all applied whole-body topical corticosteroid for treatment.
All participants received 1000 mg intravenous rituximab on days 0 and 15. In addition to rituximab, seven patients received subcutaneous high-dose omalizumab (300 mg every 2 weeks); and three patients received low-dose omalizumab (300 mg every 4 weeks or 150 mg every 2 weeks).
After a mean of 2.1 months, all patients in the high-dose omalizumab-plus-rituximab group had achieved complete remission. By contrast, all patients in the low-dose omalizumab-plus-rituximab group improved after a mean of 13 months, and none achieved complete remission.
At 3 months, all study participants were rated as being very much improved. All four patients in the high-dose omalizumab group who tapered omalizumab dosage or frequency had flare-ups within 1-3 months that resolved when they restarted the medication. Among patients who achieved complete remission, 4 of 7 required rituximab redosing between 6 and 16 months later. Rituximab alone did not achieve remission: Three patients needed to add high-dose omalizumab. All reported adverse effects were mild.
Alternatives to Corticosteroids Are Needed
For BP, “with no FDA-approved therapies available, corticosteroids remain first line for acute flares. However, prolonged corticosteroid use is associated with multiple adverse effects, including increased susceptibility to infection, osteoporosis, and diabetes mellitus,” Dr. Le pointed out. “Patients with BP who are treated with high-dose corticosteroids have significantly increased mortality and have very poor 1-year survival.
“Rituximab and omalizumab dual therapy offers another potential treatment option for severe or treatment-refractory BP,” she added. “We are hopeful that other physicians will adopt this therapy.”
The authors acknowledged limitations of the study, including its retrospective design, small sample size, lack of standardized intervals between rituximab and omalizumab, and variation in concurrent therapies, and they recommended further related research.
No conflicts of interest were reported. No funding details were provided.
who do not respond to rituximab alone, results of a case series suggest.
Bullous pemphigoid (BP) is a rare, chronic, inflammatory, blistering disease that mainly occurs in people in their 50s through their 70s. BP has high morbidity and mortality, especially in people with comorbidities common to the elderly, yet no Food and Drug Administration–approved therapies for BP exist, Stephanie T. Le, MD, a dermatologist in the department of dermatology of the University of California, Davis, told this publication.
“BP is typically thought of as an IgG-mediated disease, but many BP patients also have elevated levels of total circulating IgE levels, which has been linked to hallmarks of bullous pemphigoid, including blisters,” Dr. Le said. “These findings suggest that ideal BP treatments, such as rituximab and omalizumab, should target both IgG and IgE.”
In a study published in JAMA Dermatology, Dr. Le and her coauthors analyzed the electronic medical record data of adult patients with BP who were treated with combined rituximab and omalizumab at UC Davis between 2015 and 2022. The 10 patients who met their selection criteria averaged 62 years of age. Most were female, and most were non-Hispanic White. All had severe BP, with an initial mean BP Disease Area index score of 170, and all applied whole-body topical corticosteroid for treatment.
All participants received 1000 mg intravenous rituximab on days 0 and 15. In addition to rituximab, seven patients received subcutaneous high-dose omalizumab (300 mg every 2 weeks); and three patients received low-dose omalizumab (300 mg every 4 weeks or 150 mg every 2 weeks).
After a mean of 2.1 months, all patients in the high-dose omalizumab-plus-rituximab group had achieved complete remission. By contrast, all patients in the low-dose omalizumab-plus-rituximab group improved after a mean of 13 months, and none achieved complete remission.
At 3 months, all study participants were rated as being very much improved. All four patients in the high-dose omalizumab group who tapered omalizumab dosage or frequency had flare-ups within 1-3 months that resolved when they restarted the medication. Among patients who achieved complete remission, 4 of 7 required rituximab redosing between 6 and 16 months later. Rituximab alone did not achieve remission: Three patients needed to add high-dose omalizumab. All reported adverse effects were mild.
Alternatives to Corticosteroids Are Needed
For BP, “with no FDA-approved therapies available, corticosteroids remain first line for acute flares. However, prolonged corticosteroid use is associated with multiple adverse effects, including increased susceptibility to infection, osteoporosis, and diabetes mellitus,” Dr. Le pointed out. “Patients with BP who are treated with high-dose corticosteroids have significantly increased mortality and have very poor 1-year survival.
“Rituximab and omalizumab dual therapy offers another potential treatment option for severe or treatment-refractory BP,” she added. “We are hopeful that other physicians will adopt this therapy.”
The authors acknowledged limitations of the study, including its retrospective design, small sample size, lack of standardized intervals between rituximab and omalizumab, and variation in concurrent therapies, and they recommended further related research.
No conflicts of interest were reported. No funding details were provided.
who do not respond to rituximab alone, results of a case series suggest.
Bullous pemphigoid (BP) is a rare, chronic, inflammatory, blistering disease that mainly occurs in people in their 50s through their 70s. BP has high morbidity and mortality, especially in people with comorbidities common to the elderly, yet no Food and Drug Administration–approved therapies for BP exist, Stephanie T. Le, MD, a dermatologist in the department of dermatology of the University of California, Davis, told this publication.
“BP is typically thought of as an IgG-mediated disease, but many BP patients also have elevated levels of total circulating IgE levels, which has been linked to hallmarks of bullous pemphigoid, including blisters,” Dr. Le said. “These findings suggest that ideal BP treatments, such as rituximab and omalizumab, should target both IgG and IgE.”
In a study published in JAMA Dermatology, Dr. Le and her coauthors analyzed the electronic medical record data of adult patients with BP who were treated with combined rituximab and omalizumab at UC Davis between 2015 and 2022. The 10 patients who met their selection criteria averaged 62 years of age. Most were female, and most were non-Hispanic White. All had severe BP, with an initial mean BP Disease Area index score of 170, and all applied whole-body topical corticosteroid for treatment.
All participants received 1000 mg intravenous rituximab on days 0 and 15. In addition to rituximab, seven patients received subcutaneous high-dose omalizumab (300 mg every 2 weeks); and three patients received low-dose omalizumab (300 mg every 4 weeks or 150 mg every 2 weeks).
After a mean of 2.1 months, all patients in the high-dose omalizumab-plus-rituximab group had achieved complete remission. By contrast, all patients in the low-dose omalizumab-plus-rituximab group improved after a mean of 13 months, and none achieved complete remission.
At 3 months, all study participants were rated as being very much improved. All four patients in the high-dose omalizumab group who tapered omalizumab dosage or frequency had flare-ups within 1-3 months that resolved when they restarted the medication. Among patients who achieved complete remission, 4 of 7 required rituximab redosing between 6 and 16 months later. Rituximab alone did not achieve remission: Three patients needed to add high-dose omalizumab. All reported adverse effects were mild.
Alternatives to Corticosteroids Are Needed
For BP, “with no FDA-approved therapies available, corticosteroids remain first line for acute flares. However, prolonged corticosteroid use is associated with multiple adverse effects, including increased susceptibility to infection, osteoporosis, and diabetes mellitus,” Dr. Le pointed out. “Patients with BP who are treated with high-dose corticosteroids have significantly increased mortality and have very poor 1-year survival.
“Rituximab and omalizumab dual therapy offers another potential treatment option for severe or treatment-refractory BP,” she added. “We are hopeful that other physicians will adopt this therapy.”
The authors acknowledged limitations of the study, including its retrospective design, small sample size, lack of standardized intervals between rituximab and omalizumab, and variation in concurrent therapies, and they recommended further related research.
No conflicts of interest were reported. No funding details were provided.
FROM JAMA DERMATOLOGY
Vegan diet may curb hot flashes by altering the gut microbiome
TOPLINE:
METHODOLOGY:
- For this exploratory analysis, postmenopausal women with two or more moderate to severe hot flashes daily were randomly assigned in two successive cohorts to consume a low-fat vegan diet with cooked soybeans or their usual diet.
- Over a 12-week period, frequency and severity of hot flashes were recorded on a mobile application.
- Researchers used deep shotgun metagenomic sequencing to analyze the gut microbiome at baseline and 12 weeks in a subset of 11 women in the dietary intervention group.
TAKEAWAY:
- In the subset receiving microbiome analysis, total hot flashes decreased by 95%, moderate to severe hot flashes decreased by 96%, and severe hot flashes disappeared during the dietary intervention.
- The relative abundance of Porphyromonas and Prevotella corporis decreased in participants on the diet intervention, and this correlated with a reduction in severe daytime hot flashes.
- The relative abundance of Clostridium asparagiforme also decreased in participants on the low-fat vegan diet, and this change correlated with a reduction in total severe and severe nighttime hot flashes.
- However, after correction for multiple comparisons, these associations were no longer significant.
IN PRACTICE:
“The targeted and untargeted gut microbiome analysis was robust and revealed important changes in the gut microbiome composition in response to a low-fat vegan diet and large correlations with symptomatic changes,” the authors write. “Larger randomized clinical trials are needed to further investigate these findings.”
SOURCE:
The study, with first author Hana Kahleova, MD, PhD, with the Physicians Committee for Responsible Medicine, in Washington, DC, was published online November 8 in Complementary Therapies in Medicine.
LIMITATIONS:
The gut microbiome analysis was only performed in a small subset of women on the diet intervention, with no control group. Although strong associations were noted between several gut bacteria and changes in hot flash frequency, and nominally statistically significant relative abundance changes were observed, robust statistical significance cannot be concluded for any of the reported gut microbiome assessments when the modestly large number of total comparisons is taken into account.
DISCLOSURES:
The study was funded by the Physicians Committee for Responsible Medicine. The authors report no conflicts of interest.
A version of this article appeared on Medscape.com.
TOPLINE:
METHODOLOGY:
- For this exploratory analysis, postmenopausal women with two or more moderate to severe hot flashes daily were randomly assigned in two successive cohorts to consume a low-fat vegan diet with cooked soybeans or their usual diet.
- Over a 12-week period, frequency and severity of hot flashes were recorded on a mobile application.
- Researchers used deep shotgun metagenomic sequencing to analyze the gut microbiome at baseline and 12 weeks in a subset of 11 women in the dietary intervention group.
TAKEAWAY:
- In the subset receiving microbiome analysis, total hot flashes decreased by 95%, moderate to severe hot flashes decreased by 96%, and severe hot flashes disappeared during the dietary intervention.
- The relative abundance of Porphyromonas and Prevotella corporis decreased in participants on the diet intervention, and this correlated with a reduction in severe daytime hot flashes.
- The relative abundance of Clostridium asparagiforme also decreased in participants on the low-fat vegan diet, and this change correlated with a reduction in total severe and severe nighttime hot flashes.
- However, after correction for multiple comparisons, these associations were no longer significant.
IN PRACTICE:
“The targeted and untargeted gut microbiome analysis was robust and revealed important changes in the gut microbiome composition in response to a low-fat vegan diet and large correlations with symptomatic changes,” the authors write. “Larger randomized clinical trials are needed to further investigate these findings.”
SOURCE:
The study, with first author Hana Kahleova, MD, PhD, with the Physicians Committee for Responsible Medicine, in Washington, DC, was published online November 8 in Complementary Therapies in Medicine.
LIMITATIONS:
The gut microbiome analysis was only performed in a small subset of women on the diet intervention, with no control group. Although strong associations were noted between several gut bacteria and changes in hot flash frequency, and nominally statistically significant relative abundance changes were observed, robust statistical significance cannot be concluded for any of the reported gut microbiome assessments when the modestly large number of total comparisons is taken into account.
DISCLOSURES:
The study was funded by the Physicians Committee for Responsible Medicine. The authors report no conflicts of interest.
A version of this article appeared on Medscape.com.
TOPLINE:
METHODOLOGY:
- For this exploratory analysis, postmenopausal women with two or more moderate to severe hot flashes daily were randomly assigned in two successive cohorts to consume a low-fat vegan diet with cooked soybeans or their usual diet.
- Over a 12-week period, frequency and severity of hot flashes were recorded on a mobile application.
- Researchers used deep shotgun metagenomic sequencing to analyze the gut microbiome at baseline and 12 weeks in a subset of 11 women in the dietary intervention group.
TAKEAWAY:
- In the subset receiving microbiome analysis, total hot flashes decreased by 95%, moderate to severe hot flashes decreased by 96%, and severe hot flashes disappeared during the dietary intervention.
- The relative abundance of Porphyromonas and Prevotella corporis decreased in participants on the diet intervention, and this correlated with a reduction in severe daytime hot flashes.
- The relative abundance of Clostridium asparagiforme also decreased in participants on the low-fat vegan diet, and this change correlated with a reduction in total severe and severe nighttime hot flashes.
- However, after correction for multiple comparisons, these associations were no longer significant.
IN PRACTICE:
“The targeted and untargeted gut microbiome analysis was robust and revealed important changes in the gut microbiome composition in response to a low-fat vegan diet and large correlations with symptomatic changes,” the authors write. “Larger randomized clinical trials are needed to further investigate these findings.”
SOURCE:
The study, with first author Hana Kahleova, MD, PhD, with the Physicians Committee for Responsible Medicine, in Washington, DC, was published online November 8 in Complementary Therapies in Medicine.
LIMITATIONS:
The gut microbiome analysis was only performed in a small subset of women on the diet intervention, with no control group. Although strong associations were noted between several gut bacteria and changes in hot flash frequency, and nominally statistically significant relative abundance changes were observed, robust statistical significance cannot be concluded for any of the reported gut microbiome assessments when the modestly large number of total comparisons is taken into account.
DISCLOSURES:
The study was funded by the Physicians Committee for Responsible Medicine. The authors report no conflicts of interest.
A version of this article appeared on Medscape.com.
Patients with hypermobile Ehlers-Danlos syndrome report skin laxity, scarring
.
The genetic cause of hEDS, a common inherited connective tissue disorder, remains unknown, wrote Alan Snyder, MD, of the department of dermatology and dermatologic surgery at Medical University of South Carolina, Charleston, and colleagues.
Previous research suggests that changes in dermal mechanics predispose these patients to a range of skin conditions including mast cell activation disorder (MCAD) spectrum and chronic spontaneous urticaria, abnormal scars or wound healing, piezogenic papules, dyshidrosis, skin laxity or softness, easy bruising, local anesthesia resistance, keratosis pilaris, striae, and hidradenitis suppurativa, the researchers wrote.
However, data on these and other dermatologic manifestations of hEDS are limited, they said.
The diagnosis of hEDS will continue to be made more frequently and carefully, as the condition becomes more recognized and understood in the medical community, especially with anticipated capabilities of genetic testing, Dr. Snyder said in an interview.
“Being able to be aware of disease-specific comorbidities, such as those discovered in this study, allows providers to better stratify phenotypes and improve patient disease co-management,” he said.
In the study, published in the Journal of the American Academy of Dermatology, the researchers reviewed data on 1,364 patients with ICD-10 or ICD-9 codes for hEDS or EDS unspecified who were seen at a single institution between June 2005 and May 2022. Most of the patients were White (95.4%) and female (86.7%); the average age was 29.2 years.
Of the 1,364 patients included in the chart review, 497 (36.4%) had documented skin manifestations. Of these, 118 (24.2%) had disorders of follicular occlusion (12 had hidradenitis suppurativa, 32 had folliculitis, and 74 had acne); 112 (23%) had eczema or atopic dermatitis, 98 (19.7%) had mast cell disorder, 32 (6.4%) had psoriasis, and 32 (6.4%) had wound healing issues (16 had hypertrophic keloids/scarring, 5 had abscesses, 3 had abnormal bruising, and 8 had other would healing issues).
The study also included results of a multiple-choice patient survey from 1,354 individuals. In the survey, approximately two-thirds of patients reported abnormal scarring, abnormal wound healing, and cutaneous laxity (61.7%, 69.0%, and 71.0%, respectively).
The findings were limited by several factors including the retrospective study design, lack of testing to confirm hEDS diagnosis, and the potential interdisciplinary selection bias for diagnoses, the authors noted.
However, the results support previous studies showing increased rates of occlusive conditions in hEDS and higher rates of acne, folliculitis, and psoriasis, and highlight the need for clinician education to manage patients and promote better outcomes, the researchers concluded.
Data Enhance Clinical Awareness
“Given the increasingly understood relation between TH2-directed and mast-cell mediated diseases and hEDS, it was not necessarily a surprise to find the increased prevalence of atopy and mast cell disease, but rather an interesting confirmation, within the limitations that exist with retrospective chart review,” Dr. Snyder told this news organization. “While it may make some intuitive sense that certain cohorts with higher risk of HS may have a higher risk of acne, this had not been reported in the literature to date,” he noted. “Given the high levels of patient reported issues with scarring and wound healing, I was surprised that so few analogous diagnoses were physician-reported in the medical records.”
In clinical practice, “health care professionals and patients need to be aware hEDS is associated with high rates of eczematous, mast-cell mediated and follicular occlusive cutaneous disorders,” Dr. Snyder said in an interview. “There seems to be a discrepancy between patients and physician awareness of scarring or wound healing issues in this patient population,” he added.
Looking ahead, “we need to better research and characterize the various hEDS phenotypes to understand who is at highest risk for various TH2-mediated or follicular occlusive disorders,” said Dr. Snyder. “Moreover, a greater understanding is needed of the wound healing inadequacies that predispose these patients to poor outcomes during dermatologic surgery,” he said.
The study was supported by the Ehlers-Danlos Society and the Milton and Tamar Maltz Family Foundation. The researchers had no financial conflicts to disclose.
.
The genetic cause of hEDS, a common inherited connective tissue disorder, remains unknown, wrote Alan Snyder, MD, of the department of dermatology and dermatologic surgery at Medical University of South Carolina, Charleston, and colleagues.
Previous research suggests that changes in dermal mechanics predispose these patients to a range of skin conditions including mast cell activation disorder (MCAD) spectrum and chronic spontaneous urticaria, abnormal scars or wound healing, piezogenic papules, dyshidrosis, skin laxity or softness, easy bruising, local anesthesia resistance, keratosis pilaris, striae, and hidradenitis suppurativa, the researchers wrote.
However, data on these and other dermatologic manifestations of hEDS are limited, they said.
The diagnosis of hEDS will continue to be made more frequently and carefully, as the condition becomes more recognized and understood in the medical community, especially with anticipated capabilities of genetic testing, Dr. Snyder said in an interview.
“Being able to be aware of disease-specific comorbidities, such as those discovered in this study, allows providers to better stratify phenotypes and improve patient disease co-management,” he said.
In the study, published in the Journal of the American Academy of Dermatology, the researchers reviewed data on 1,364 patients with ICD-10 or ICD-9 codes for hEDS or EDS unspecified who were seen at a single institution between June 2005 and May 2022. Most of the patients were White (95.4%) and female (86.7%); the average age was 29.2 years.
Of the 1,364 patients included in the chart review, 497 (36.4%) had documented skin manifestations. Of these, 118 (24.2%) had disorders of follicular occlusion (12 had hidradenitis suppurativa, 32 had folliculitis, and 74 had acne); 112 (23%) had eczema or atopic dermatitis, 98 (19.7%) had mast cell disorder, 32 (6.4%) had psoriasis, and 32 (6.4%) had wound healing issues (16 had hypertrophic keloids/scarring, 5 had abscesses, 3 had abnormal bruising, and 8 had other would healing issues).
The study also included results of a multiple-choice patient survey from 1,354 individuals. In the survey, approximately two-thirds of patients reported abnormal scarring, abnormal wound healing, and cutaneous laxity (61.7%, 69.0%, and 71.0%, respectively).
The findings were limited by several factors including the retrospective study design, lack of testing to confirm hEDS diagnosis, and the potential interdisciplinary selection bias for diagnoses, the authors noted.
However, the results support previous studies showing increased rates of occlusive conditions in hEDS and higher rates of acne, folliculitis, and psoriasis, and highlight the need for clinician education to manage patients and promote better outcomes, the researchers concluded.
Data Enhance Clinical Awareness
“Given the increasingly understood relation between TH2-directed and mast-cell mediated diseases and hEDS, it was not necessarily a surprise to find the increased prevalence of atopy and mast cell disease, but rather an interesting confirmation, within the limitations that exist with retrospective chart review,” Dr. Snyder told this news organization. “While it may make some intuitive sense that certain cohorts with higher risk of HS may have a higher risk of acne, this had not been reported in the literature to date,” he noted. “Given the high levels of patient reported issues with scarring and wound healing, I was surprised that so few analogous diagnoses were physician-reported in the medical records.”
In clinical practice, “health care professionals and patients need to be aware hEDS is associated with high rates of eczematous, mast-cell mediated and follicular occlusive cutaneous disorders,” Dr. Snyder said in an interview. “There seems to be a discrepancy between patients and physician awareness of scarring or wound healing issues in this patient population,” he added.
Looking ahead, “we need to better research and characterize the various hEDS phenotypes to understand who is at highest risk for various TH2-mediated or follicular occlusive disorders,” said Dr. Snyder. “Moreover, a greater understanding is needed of the wound healing inadequacies that predispose these patients to poor outcomes during dermatologic surgery,” he said.
The study was supported by the Ehlers-Danlos Society and the Milton and Tamar Maltz Family Foundation. The researchers had no financial conflicts to disclose.
.
The genetic cause of hEDS, a common inherited connective tissue disorder, remains unknown, wrote Alan Snyder, MD, of the department of dermatology and dermatologic surgery at Medical University of South Carolina, Charleston, and colleagues.
Previous research suggests that changes in dermal mechanics predispose these patients to a range of skin conditions including mast cell activation disorder (MCAD) spectrum and chronic spontaneous urticaria, abnormal scars or wound healing, piezogenic papules, dyshidrosis, skin laxity or softness, easy bruising, local anesthesia resistance, keratosis pilaris, striae, and hidradenitis suppurativa, the researchers wrote.
However, data on these and other dermatologic manifestations of hEDS are limited, they said.
The diagnosis of hEDS will continue to be made more frequently and carefully, as the condition becomes more recognized and understood in the medical community, especially with anticipated capabilities of genetic testing, Dr. Snyder said in an interview.
“Being able to be aware of disease-specific comorbidities, such as those discovered in this study, allows providers to better stratify phenotypes and improve patient disease co-management,” he said.
In the study, published in the Journal of the American Academy of Dermatology, the researchers reviewed data on 1,364 patients with ICD-10 or ICD-9 codes for hEDS or EDS unspecified who were seen at a single institution between June 2005 and May 2022. Most of the patients were White (95.4%) and female (86.7%); the average age was 29.2 years.
Of the 1,364 patients included in the chart review, 497 (36.4%) had documented skin manifestations. Of these, 118 (24.2%) had disorders of follicular occlusion (12 had hidradenitis suppurativa, 32 had folliculitis, and 74 had acne); 112 (23%) had eczema or atopic dermatitis, 98 (19.7%) had mast cell disorder, 32 (6.4%) had psoriasis, and 32 (6.4%) had wound healing issues (16 had hypertrophic keloids/scarring, 5 had abscesses, 3 had abnormal bruising, and 8 had other would healing issues).
The study also included results of a multiple-choice patient survey from 1,354 individuals. In the survey, approximately two-thirds of patients reported abnormal scarring, abnormal wound healing, and cutaneous laxity (61.7%, 69.0%, and 71.0%, respectively).
The findings were limited by several factors including the retrospective study design, lack of testing to confirm hEDS diagnosis, and the potential interdisciplinary selection bias for diagnoses, the authors noted.
However, the results support previous studies showing increased rates of occlusive conditions in hEDS and higher rates of acne, folliculitis, and psoriasis, and highlight the need for clinician education to manage patients and promote better outcomes, the researchers concluded.
Data Enhance Clinical Awareness
“Given the increasingly understood relation between TH2-directed and mast-cell mediated diseases and hEDS, it was not necessarily a surprise to find the increased prevalence of atopy and mast cell disease, but rather an interesting confirmation, within the limitations that exist with retrospective chart review,” Dr. Snyder told this news organization. “While it may make some intuitive sense that certain cohorts with higher risk of HS may have a higher risk of acne, this had not been reported in the literature to date,” he noted. “Given the high levels of patient reported issues with scarring and wound healing, I was surprised that so few analogous diagnoses were physician-reported in the medical records.”
In clinical practice, “health care professionals and patients need to be aware hEDS is associated with high rates of eczematous, mast-cell mediated and follicular occlusive cutaneous disorders,” Dr. Snyder said in an interview. “There seems to be a discrepancy between patients and physician awareness of scarring or wound healing issues in this patient population,” he added.
Looking ahead, “we need to better research and characterize the various hEDS phenotypes to understand who is at highest risk for various TH2-mediated or follicular occlusive disorders,” said Dr. Snyder. “Moreover, a greater understanding is needed of the wound healing inadequacies that predispose these patients to poor outcomes during dermatologic surgery,” he said.
The study was supported by the Ehlers-Danlos Society and the Milton and Tamar Maltz Family Foundation. The researchers had no financial conflicts to disclose.
FROM THE JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY