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From Health to Hemolysis: A Unique Presentation of TTP in an Otherwise Well Individual

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Background

Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening hematologic disorder that includes a combination of thrombocytopenia, microangiopathic hemolytic anemia, and neuropsychiatric symptoms. The pathogenesis of TTP is due to a deficiency of ADAMTS13. While early initiation of plasma exchange is vital for managing TTP, differentiating TTP from disseminated intravascular coagulation, hemolytic uremic syndrome, and heparin-induced thrombocytopenia is challenging. Standard of care includes plasma exchange and immunosuppressive agents. Relapse occurs in 36% of patients, and mortality rates range from 10% to 20%. Caplacizumab was approved in 2019 for the treatment of adults with acquired TTP in conjunction with the above therapies. Here we report a case of a 52- year-old patient treated with caplacizumab for TTP at our institution.

Case Presentation

A 52-year-old Jehovah’s Witness female with no prior hematologic history presented with one-day history of nausea and vomiting. While the patient did not initially present with neurologic changes, she did later become acutely confused, endorsing tactile hallucinations. Physical exam was notable for scattered ecchymoses on the upper extremities. Labs were notable for thrombocytopenia with a platelet count of 30,000, hemoglobin 13.6, and creatinine 1.5. There was evidence of hemolysis with elevated LDH, fibrinogen, undetectable haptoglobin, and schistocytes on peripheral smear. Her PLASMIC score on admission was 6. ADAMTS13 level was low at 0.5. The patient was initially on plasma exchange therapy and IV steroids, but with her degree of multiorgan dysfunction, treatment was escalated to caplacizumab and weekly rituximab. Platelet counts started to improve on hospital day four, and at the time of discharge, symptoms improved. Patient’s mental status returned to baseline and labs showed normalization of platelet count, hemoglobin, with improvement in kidney function.

Discussion

Early diagnosis and treatment of TTP is crucial for improving outcomes for patients. Here we show that treatment with caplacizumab is an effective adjunct therapy to steroids and plasmapheresis in patients with severe disease and multiorgan dysfuncition and is effective in rapidly improving hematologic abnormalities. While our patient was ultimately accepting of plasma exchange, caplacizumab could be considered as an off-label therapy in patients who are Jehovah’s witness patients and refuse treatment with plasma.

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Background

Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening hematologic disorder that includes a combination of thrombocytopenia, microangiopathic hemolytic anemia, and neuropsychiatric symptoms. The pathogenesis of TTP is due to a deficiency of ADAMTS13. While early initiation of plasma exchange is vital for managing TTP, differentiating TTP from disseminated intravascular coagulation, hemolytic uremic syndrome, and heparin-induced thrombocytopenia is challenging. Standard of care includes plasma exchange and immunosuppressive agents. Relapse occurs in 36% of patients, and mortality rates range from 10% to 20%. Caplacizumab was approved in 2019 for the treatment of adults with acquired TTP in conjunction with the above therapies. Here we report a case of a 52- year-old patient treated with caplacizumab for TTP at our institution.

Case Presentation

A 52-year-old Jehovah’s Witness female with no prior hematologic history presented with one-day history of nausea and vomiting. While the patient did not initially present with neurologic changes, she did later become acutely confused, endorsing tactile hallucinations. Physical exam was notable for scattered ecchymoses on the upper extremities. Labs were notable for thrombocytopenia with a platelet count of 30,000, hemoglobin 13.6, and creatinine 1.5. There was evidence of hemolysis with elevated LDH, fibrinogen, undetectable haptoglobin, and schistocytes on peripheral smear. Her PLASMIC score on admission was 6. ADAMTS13 level was low at 0.5. The patient was initially on plasma exchange therapy and IV steroids, but with her degree of multiorgan dysfunction, treatment was escalated to caplacizumab and weekly rituximab. Platelet counts started to improve on hospital day four, and at the time of discharge, symptoms improved. Patient’s mental status returned to baseline and labs showed normalization of platelet count, hemoglobin, with improvement in kidney function.

Discussion

Early diagnosis and treatment of TTP is crucial for improving outcomes for patients. Here we show that treatment with caplacizumab is an effective adjunct therapy to steroids and plasmapheresis in patients with severe disease and multiorgan dysfuncition and is effective in rapidly improving hematologic abnormalities. While our patient was ultimately accepting of plasma exchange, caplacizumab could be considered as an off-label therapy in patients who are Jehovah’s witness patients and refuse treatment with plasma.

Background

Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening hematologic disorder that includes a combination of thrombocytopenia, microangiopathic hemolytic anemia, and neuropsychiatric symptoms. The pathogenesis of TTP is due to a deficiency of ADAMTS13. While early initiation of plasma exchange is vital for managing TTP, differentiating TTP from disseminated intravascular coagulation, hemolytic uremic syndrome, and heparin-induced thrombocytopenia is challenging. Standard of care includes plasma exchange and immunosuppressive agents. Relapse occurs in 36% of patients, and mortality rates range from 10% to 20%. Caplacizumab was approved in 2019 for the treatment of adults with acquired TTP in conjunction with the above therapies. Here we report a case of a 52- year-old patient treated with caplacizumab for TTP at our institution.

Case Presentation

A 52-year-old Jehovah’s Witness female with no prior hematologic history presented with one-day history of nausea and vomiting. While the patient did not initially present with neurologic changes, she did later become acutely confused, endorsing tactile hallucinations. Physical exam was notable for scattered ecchymoses on the upper extremities. Labs were notable for thrombocytopenia with a platelet count of 30,000, hemoglobin 13.6, and creatinine 1.5. There was evidence of hemolysis with elevated LDH, fibrinogen, undetectable haptoglobin, and schistocytes on peripheral smear. Her PLASMIC score on admission was 6. ADAMTS13 level was low at 0.5. The patient was initially on plasma exchange therapy and IV steroids, but with her degree of multiorgan dysfunction, treatment was escalated to caplacizumab and weekly rituximab. Platelet counts started to improve on hospital day four, and at the time of discharge, symptoms improved. Patient’s mental status returned to baseline and labs showed normalization of platelet count, hemoglobin, with improvement in kidney function.

Discussion

Early diagnosis and treatment of TTP is crucial for improving outcomes for patients. Here we show that treatment with caplacizumab is an effective adjunct therapy to steroids and plasmapheresis in patients with severe disease and multiorgan dysfuncition and is effective in rapidly improving hematologic abnormalities. While our patient was ultimately accepting of plasma exchange, caplacizumab could be considered as an off-label therapy in patients who are Jehovah’s witness patients and refuse treatment with plasma.

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Severe Vitamin B12 Deficiency Complicated by Profound Pancytopenia, Hemolytic Anemia, and Neuropsychiatric Changes

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Background

Vitamin B12 deficiency is a well-recognized cause of megaloblastic anemia. In severe cases, it can lead to neuropsychiatric symptoms, hemolytic anemia, and pancytopenia.

Case Presentation

A 60-year-old male presented due to multiple falls and confusion. On presentation, he was markedly altered and unable to provide a history. His spouse reported a one-day history of incoordination and confusion. Physical examination revealed an ill-appearing male who was unable to follow commands with non-purposeful movements of all extremities. Initial labs showed a WBC 0.5 x103/μL, Hgb 3.6 g/dL, MCV 118.8 fL, platelets 7 x 103/μL, lymphocytes 50%, atypical lymphocytes 2%, and total bilirubin of 2.1 mg/dL (direct bilirubin 0.8 mg/dL). Further evaluation showed a reticulocyte count of 7.8 x109/L, reticulocyte 1%, and reticulocyte index of 0.7. Iron studies were unremarkable. Lactate dehydrogenase was elevated at 796 U/L and haptoglobin was undetectably low (< 20 mg/dL). Peripheral smear showed macrocytic anemia, anisopoikilocytosis, leukopenia with hypersegmented neutrophils, and thrombocytopenia; no schistocytes were noted. Additional labs showed folate of 3.8 ng/mL and an undetectably low vitamin B12 level (< 159 pg/mL). Anti-parietal cell and intrinsic factor blocking antibodies were negative. Infectious workups and serum protein electrophoresis were negative. The patient was diagnosed with severe vitamin B12 deficiency resulting in pancytopenia, hemolytic anemia secondary to intramedullary hemolysis, and neuropsychiatric changes. He was started on daily intramuscular (IM) cyanocobalamin (1000 mcg) and supportive transfusions. Over the hospitalization, his mentation returned to baseline and his cell counts stabilized.

Discussion

Vitamin B12 is an important co-factor needed for the synthesis of DNA and myelin. Vitamin B12 deficiency most commonly presents with megaloblastic anemia but neuropsychiatric manifestations can occur in severe cases. Pancytopenia occurs in ~5% of patients with B12 deficiency, whereas hemolytic anemia occurs in only ~1.5% of patients. Hemolytic anemia secondary to B12 deficiency is thought to be due to ineffective erythropoiesis causing intramedullary hemolysis. Prompt diagnosis and B12 supplementation can lead to rapid clinical recovery.

Conclusions

This case highlights the importance of considering vitamin B12 deficiency in patients with unexplained pancytopenia, hemolytic anemia, and neuropsychiatric symptoms. Early diagnosis and treatment can lead to significant and rapid clinical improvement.

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Background

Vitamin B12 deficiency is a well-recognized cause of megaloblastic anemia. In severe cases, it can lead to neuropsychiatric symptoms, hemolytic anemia, and pancytopenia.

Case Presentation

A 60-year-old male presented due to multiple falls and confusion. On presentation, he was markedly altered and unable to provide a history. His spouse reported a one-day history of incoordination and confusion. Physical examination revealed an ill-appearing male who was unable to follow commands with non-purposeful movements of all extremities. Initial labs showed a WBC 0.5 x103/μL, Hgb 3.6 g/dL, MCV 118.8 fL, platelets 7 x 103/μL, lymphocytes 50%, atypical lymphocytes 2%, and total bilirubin of 2.1 mg/dL (direct bilirubin 0.8 mg/dL). Further evaluation showed a reticulocyte count of 7.8 x109/L, reticulocyte 1%, and reticulocyte index of 0.7. Iron studies were unremarkable. Lactate dehydrogenase was elevated at 796 U/L and haptoglobin was undetectably low (< 20 mg/dL). Peripheral smear showed macrocytic anemia, anisopoikilocytosis, leukopenia with hypersegmented neutrophils, and thrombocytopenia; no schistocytes were noted. Additional labs showed folate of 3.8 ng/mL and an undetectably low vitamin B12 level (< 159 pg/mL). Anti-parietal cell and intrinsic factor blocking antibodies were negative. Infectious workups and serum protein electrophoresis were negative. The patient was diagnosed with severe vitamin B12 deficiency resulting in pancytopenia, hemolytic anemia secondary to intramedullary hemolysis, and neuropsychiatric changes. He was started on daily intramuscular (IM) cyanocobalamin (1000 mcg) and supportive transfusions. Over the hospitalization, his mentation returned to baseline and his cell counts stabilized.

Discussion

Vitamin B12 is an important co-factor needed for the synthesis of DNA and myelin. Vitamin B12 deficiency most commonly presents with megaloblastic anemia but neuropsychiatric manifestations can occur in severe cases. Pancytopenia occurs in ~5% of patients with B12 deficiency, whereas hemolytic anemia occurs in only ~1.5% of patients. Hemolytic anemia secondary to B12 deficiency is thought to be due to ineffective erythropoiesis causing intramedullary hemolysis. Prompt diagnosis and B12 supplementation can lead to rapid clinical recovery.

Conclusions

This case highlights the importance of considering vitamin B12 deficiency in patients with unexplained pancytopenia, hemolytic anemia, and neuropsychiatric symptoms. Early diagnosis and treatment can lead to significant and rapid clinical improvement.

Background

Vitamin B12 deficiency is a well-recognized cause of megaloblastic anemia. In severe cases, it can lead to neuropsychiatric symptoms, hemolytic anemia, and pancytopenia.

Case Presentation

A 60-year-old male presented due to multiple falls and confusion. On presentation, he was markedly altered and unable to provide a history. His spouse reported a one-day history of incoordination and confusion. Physical examination revealed an ill-appearing male who was unable to follow commands with non-purposeful movements of all extremities. Initial labs showed a WBC 0.5 x103/μL, Hgb 3.6 g/dL, MCV 118.8 fL, platelets 7 x 103/μL, lymphocytes 50%, atypical lymphocytes 2%, and total bilirubin of 2.1 mg/dL (direct bilirubin 0.8 mg/dL). Further evaluation showed a reticulocyte count of 7.8 x109/L, reticulocyte 1%, and reticulocyte index of 0.7. Iron studies were unremarkable. Lactate dehydrogenase was elevated at 796 U/L and haptoglobin was undetectably low (< 20 mg/dL). Peripheral smear showed macrocytic anemia, anisopoikilocytosis, leukopenia with hypersegmented neutrophils, and thrombocytopenia; no schistocytes were noted. Additional labs showed folate of 3.8 ng/mL and an undetectably low vitamin B12 level (< 159 pg/mL). Anti-parietal cell and intrinsic factor blocking antibodies were negative. Infectious workups and serum protein electrophoresis were negative. The patient was diagnosed with severe vitamin B12 deficiency resulting in pancytopenia, hemolytic anemia secondary to intramedullary hemolysis, and neuropsychiatric changes. He was started on daily intramuscular (IM) cyanocobalamin (1000 mcg) and supportive transfusions. Over the hospitalization, his mentation returned to baseline and his cell counts stabilized.

Discussion

Vitamin B12 is an important co-factor needed for the synthesis of DNA and myelin. Vitamin B12 deficiency most commonly presents with megaloblastic anemia but neuropsychiatric manifestations can occur in severe cases. Pancytopenia occurs in ~5% of patients with B12 deficiency, whereas hemolytic anemia occurs in only ~1.5% of patients. Hemolytic anemia secondary to B12 deficiency is thought to be due to ineffective erythropoiesis causing intramedullary hemolysis. Prompt diagnosis and B12 supplementation can lead to rapid clinical recovery.

Conclusions

This case highlights the importance of considering vitamin B12 deficiency in patients with unexplained pancytopenia, hemolytic anemia, and neuropsychiatric symptoms. Early diagnosis and treatment can lead to significant and rapid clinical improvement.

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Daratumumab and Darbepoetin for Refractory Warm Autoimmune Hemolytic Anemia: A Novel Duo for a Tough Case

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Thu, 08/28/2025 - 14:33

Background

Warm autoimmune hemolytic anemia (wAIHA) is traditionally treated with immunosuppresimmunosuppression, and management of refractory disease is often a challenge. The anti-CD38 antibody daratumumab is emerging as a promising treatment for refractory wAIHA, as it targets autoantibody-producing plasma cells. Here, we present the first reported case of daratumumab used in conjunction with an erythropoiesisstimulating agent (ESA) to salvage refractory wAIHA in a patient with AIDS and bone marrow suppression.

Case Presentation

A middle aged man with HIV (undetectable viral load on antiretroviral treatment but CD4 persistently < 200, requiring chronic antimicrobial prophylaxis) was diagnosed with classic wAIHA in late 2021. The disease initially responded to corticosteroids, but relapsed repeatedly and eventually required IVIG, rituximab, danazol, and three immunosuppressive agents, none of which induced remission. Hemolysis worsened by fall 2024, with hemoglobin 5-6 g/dL despite high-dose corticosteroids and IVIG. Bone marrow biopsy was unrevealing, and he underwent splenectomy. However, recovery was complicated by cutaneous nocardiosis, iron overload, liver injury, and continued hemolysis. Eventually, reticulocytosis also ceased, and hemoglobin declined to 4-5 g/dL. Due to failure of standard therapies and to minimize further immunosuppression, weekly daratumumab injections were initiated, with weekly darbepoetin injections added to aid in compensatory hematopoiesis. With this combination, hemolysis indices improved, reticulocytosis picked up, and hemoglobin increased to 8-9 g/dL. However, the patient continued to struggle with infections, and he succumbed to drug-resistant bacterial sepsis in spring 2025.

Discussion

The patient had very complicated chronic and acute comorbidities, and some simplification was required in order to provide this summary. However, we hope this case adds to the literature on daratumumab as an effective new agent in refractory wAIHA, and also present a novel duo of therapies for patients who may struggle with bone marrow suppression in addition to autoimmune hemolysis. To our knowledge, this is the first reported case of the combination used in this manner.

Conclusions

Daratumumab is an effective and less immunosuppressive alternative for the treatment of heavily pretreated refractory wAIHA. Its combined use with ESA in patients with inadequate reticulocytosis should be studied further to clarify the efficacy and safety in this setting.

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Background

Warm autoimmune hemolytic anemia (wAIHA) is traditionally treated with immunosuppresimmunosuppression, and management of refractory disease is often a challenge. The anti-CD38 antibody daratumumab is emerging as a promising treatment for refractory wAIHA, as it targets autoantibody-producing plasma cells. Here, we present the first reported case of daratumumab used in conjunction with an erythropoiesisstimulating agent (ESA) to salvage refractory wAIHA in a patient with AIDS and bone marrow suppression.

Case Presentation

A middle aged man with HIV (undetectable viral load on antiretroviral treatment but CD4 persistently < 200, requiring chronic antimicrobial prophylaxis) was diagnosed with classic wAIHA in late 2021. The disease initially responded to corticosteroids, but relapsed repeatedly and eventually required IVIG, rituximab, danazol, and three immunosuppressive agents, none of which induced remission. Hemolysis worsened by fall 2024, with hemoglobin 5-6 g/dL despite high-dose corticosteroids and IVIG. Bone marrow biopsy was unrevealing, and he underwent splenectomy. However, recovery was complicated by cutaneous nocardiosis, iron overload, liver injury, and continued hemolysis. Eventually, reticulocytosis also ceased, and hemoglobin declined to 4-5 g/dL. Due to failure of standard therapies and to minimize further immunosuppression, weekly daratumumab injections were initiated, with weekly darbepoetin injections added to aid in compensatory hematopoiesis. With this combination, hemolysis indices improved, reticulocytosis picked up, and hemoglobin increased to 8-9 g/dL. However, the patient continued to struggle with infections, and he succumbed to drug-resistant bacterial sepsis in spring 2025.

Discussion

The patient had very complicated chronic and acute comorbidities, and some simplification was required in order to provide this summary. However, we hope this case adds to the literature on daratumumab as an effective new agent in refractory wAIHA, and also present a novel duo of therapies for patients who may struggle with bone marrow suppression in addition to autoimmune hemolysis. To our knowledge, this is the first reported case of the combination used in this manner.

Conclusions

Daratumumab is an effective and less immunosuppressive alternative for the treatment of heavily pretreated refractory wAIHA. Its combined use with ESA in patients with inadequate reticulocytosis should be studied further to clarify the efficacy and safety in this setting.

Background

Warm autoimmune hemolytic anemia (wAIHA) is traditionally treated with immunosuppresimmunosuppression, and management of refractory disease is often a challenge. The anti-CD38 antibody daratumumab is emerging as a promising treatment for refractory wAIHA, as it targets autoantibody-producing plasma cells. Here, we present the first reported case of daratumumab used in conjunction with an erythropoiesisstimulating agent (ESA) to salvage refractory wAIHA in a patient with AIDS and bone marrow suppression.

Case Presentation

A middle aged man with HIV (undetectable viral load on antiretroviral treatment but CD4 persistently < 200, requiring chronic antimicrobial prophylaxis) was diagnosed with classic wAIHA in late 2021. The disease initially responded to corticosteroids, but relapsed repeatedly and eventually required IVIG, rituximab, danazol, and three immunosuppressive agents, none of which induced remission. Hemolysis worsened by fall 2024, with hemoglobin 5-6 g/dL despite high-dose corticosteroids and IVIG. Bone marrow biopsy was unrevealing, and he underwent splenectomy. However, recovery was complicated by cutaneous nocardiosis, iron overload, liver injury, and continued hemolysis. Eventually, reticulocytosis also ceased, and hemoglobin declined to 4-5 g/dL. Due to failure of standard therapies and to minimize further immunosuppression, weekly daratumumab injections were initiated, with weekly darbepoetin injections added to aid in compensatory hematopoiesis. With this combination, hemolysis indices improved, reticulocytosis picked up, and hemoglobin increased to 8-9 g/dL. However, the patient continued to struggle with infections, and he succumbed to drug-resistant bacterial sepsis in spring 2025.

Discussion

The patient had very complicated chronic and acute comorbidities, and some simplification was required in order to provide this summary. However, we hope this case adds to the literature on daratumumab as an effective new agent in refractory wAIHA, and also present a novel duo of therapies for patients who may struggle with bone marrow suppression in addition to autoimmune hemolysis. To our knowledge, this is the first reported case of the combination used in this manner.

Conclusions

Daratumumab is an effective and less immunosuppressive alternative for the treatment of heavily pretreated refractory wAIHA. Its combined use with ESA in patients with inadequate reticulocytosis should be studied further to clarify the efficacy and safety in this setting.

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Fertility Preservation in SCD: Women Have More Complications

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— Significant complications were common in female patients with sickle cell disease (SCD) who underwent fertility preservation (FP) procedures, and 13% required multiple retrieval cycles, a five-center retrospective study found.

Of 46 patients with SCD, complications occurred in 25 of 55 controlled ovarian hyperstimulation cycles, including 29 vaso-occlusive episodes (VOEs), researchers reported at the American Society of Hematology (ASH) 2024 Annual Meeting.

Of 21 post-retrieval VOEs, 19 required emergency department care or hospitalization.

“Baseline sickle cell disease severity is most likely associated with a patient’s risk of complications from an egg retrieval cycle,” study co-author Sarah Cromack, MD, a reproductive endocrinology and infertility fellow at Northwestern University, Chicago, said in an interview.

“Both hematologists and reproductive endocrinologists can use this information to plan ahead and anticipate possible issues, check blood counts prior to and after egg retrieval to see if transfusion is needed, and plan close follow-up during stimulation and immediately after egg retrieval to evaluate and treat pain.”

 

SCD Accelerates Decline in Ovarian Reserve

Pediatric hematologist Lydia H. Pecker, MD, MS, of Johns Hopkins University School of Medicine, Baltimore, the study’s corresponding author, said in an interview that SCD is “a disease of accelerated aging” that leads to accelerated decline in ovarian reserve. “The common indication for fertility preservation in SCD is before bone marrow transplant or gene therapy,” she said, although FP can also be offered to other patients with SCD.

According to Cromack, researchers launched the study to expand information about SCD and FP in light of sparse data about outcomes.

All the 46 patients had hemoglobin SS (HbSS, 93%) and HbSβ0-thalassemia (7%) and a median age of 23.7 (18-28) years. Almost all (44 patients) underwent FP prior to curative treatments, and all had at least one SCD-related complication, mainly cerebrovascular disease (16), acute chest syndrome (23), and more than two VOEs per year (31).

Median anti-Mullerian hormone (AMH) level (2.1 ng/mL), a measurement of ovarian reserve, was lower than the expected level of 2.8-3.4 ng/mL among women in the age range of the patients, the researchers reported. “This is consistent with previous studies showing lower AMH for age in women with sickle cell disease,” Pecker said.

 

Complications in 45% of Retrieval Cycles

“In terms of success of oocyte cryopreservation, the median number of mature eggs frozen was 11,” said co-author and reproductive endocrinologist Jessica Walter, MD, of Northwestern University, in an interview. “Given the average age of 24 years in the cohort, this would give each patient about a 70% estimated probability of at least one live birth from their cohort of frozen eggs. Thus, patients hoping for more than one child may want to consider more than one cycle of egg freezing.”

The rate of complications was “fairly high” at 45% of all cycles, Walter said. “These were mostly complications from underlying sickle cell disease, including unplanned transfusions and admissions for vaso-occlusive crises. Surprisingly, there were very few cases of ovarian hyperstimulation syndrome in this young patient group, which may be due to a combination of underlying vascular disease, lower peak estradiol levels, and slightly less eggs retrieved then would be expected compared to an age-matched healthy controls.”

Any FP complication was associated with more than three VOEs in the year before controlled ovarian hyperstimulation (mean of three VOEs per patient without complications vs six per patient with complications; P = .036).

 

Higher Than Normal Need for Multiple Cycles

Reproductive endocrinologist H. Irene Su, MD, professor and co-director of the Center for OB/GYN Research Innovations at Moores Cancer Center, University of California San Diego, praised the study as “an important report” in an interview.

Su, who wasn’t involved in the research, said the percentage of patients requiring more than one cycle due to cancellation or low oocyte yield — 13% — is “higher than expected, given the young age of this cohort.”

This could reflect the hypothesis that “sickle cell crises and hypoxia adversely affect the finite number of oocytes in the ovary,” she said.

As for the study findings regarding complications, she said the rate “is very high compared to the general infertility or fertility preservation population. It would be good to learn predictors of these outcomes so that fertility and hematology clinicians can work together to stratify risk and supportive services around FP cycles. It would also be good to know if the post-retrieval VOE were unexpected given the patient’s disease activity prior to FP.”

 

Message: FP in SCD Is Feasible, Acceptable

A.D. Mishkin, MD, MPH, associate professor of psychiatry and liaison to the Blood and Marrow Transplantation Program at NewYork–Presbyterian/Columbia University Irving Medical Center, New York City, said in an interview that the study “establishes the feasibility and acceptability of oocyte harvest and preservation in a population of patients with active ongoing symptoms from SCD. It also indicates their interest in pursuing fertility preservation in the setting of frequent crises and the potential for management of ensuing complications.”

Mishkin, who didn’t take part in the research, highlighted the finding that half the patients got access to FP via public insurance or research funding. “Even in this population where most women had multiple complications in the year prior to FP, and even among patients who needed multiple retrievals, these patients wanted to go through that risk to preserve their fertility,” Mishkin said. “This is an important finding given the very limited access many individuals have to FP due to its high cost and limited insurance coverage, which is also largely state-dependent.”

There’s another factor to consider regarding SCD and FP: The potential danger of pregnancy.

Corresponding author Pecker noted that “pregnancy is high risk for people with sickle cell disease. There are very high rates of severe maternal mortality and morbidity even in high-income countries. However, some of this is modifiable with routine use of chronic transfusions during pregnancy and with high-quality and integrated expert SCD and expert maternal fetal medicine care during pregnancy.”

The National Institutes of Health supported the research. Pecker reported receiving research funding from Alexion, Novartis, and Aummune and consulting for Novo Nordisk. Other authors reported no disclosures. Su and Mishkin reported no disclosures.

 

A version of this article appeared on Medscape.com.

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— Significant complications were common in female patients with sickle cell disease (SCD) who underwent fertility preservation (FP) procedures, and 13% required multiple retrieval cycles, a five-center retrospective study found.

Of 46 patients with SCD, complications occurred in 25 of 55 controlled ovarian hyperstimulation cycles, including 29 vaso-occlusive episodes (VOEs), researchers reported at the American Society of Hematology (ASH) 2024 Annual Meeting.

Of 21 post-retrieval VOEs, 19 required emergency department care or hospitalization.

“Baseline sickle cell disease severity is most likely associated with a patient’s risk of complications from an egg retrieval cycle,” study co-author Sarah Cromack, MD, a reproductive endocrinology and infertility fellow at Northwestern University, Chicago, said in an interview.

“Both hematologists and reproductive endocrinologists can use this information to plan ahead and anticipate possible issues, check blood counts prior to and after egg retrieval to see if transfusion is needed, and plan close follow-up during stimulation and immediately after egg retrieval to evaluate and treat pain.”

 

SCD Accelerates Decline in Ovarian Reserve

Pediatric hematologist Lydia H. Pecker, MD, MS, of Johns Hopkins University School of Medicine, Baltimore, the study’s corresponding author, said in an interview that SCD is “a disease of accelerated aging” that leads to accelerated decline in ovarian reserve. “The common indication for fertility preservation in SCD is before bone marrow transplant or gene therapy,” she said, although FP can also be offered to other patients with SCD.

According to Cromack, researchers launched the study to expand information about SCD and FP in light of sparse data about outcomes.

All the 46 patients had hemoglobin SS (HbSS, 93%) and HbSβ0-thalassemia (7%) and a median age of 23.7 (18-28) years. Almost all (44 patients) underwent FP prior to curative treatments, and all had at least one SCD-related complication, mainly cerebrovascular disease (16), acute chest syndrome (23), and more than two VOEs per year (31).

Median anti-Mullerian hormone (AMH) level (2.1 ng/mL), a measurement of ovarian reserve, was lower than the expected level of 2.8-3.4 ng/mL among women in the age range of the patients, the researchers reported. “This is consistent with previous studies showing lower AMH for age in women with sickle cell disease,” Pecker said.

 

Complications in 45% of Retrieval Cycles

“In terms of success of oocyte cryopreservation, the median number of mature eggs frozen was 11,” said co-author and reproductive endocrinologist Jessica Walter, MD, of Northwestern University, in an interview. “Given the average age of 24 years in the cohort, this would give each patient about a 70% estimated probability of at least one live birth from their cohort of frozen eggs. Thus, patients hoping for more than one child may want to consider more than one cycle of egg freezing.”

The rate of complications was “fairly high” at 45% of all cycles, Walter said. “These were mostly complications from underlying sickle cell disease, including unplanned transfusions and admissions for vaso-occlusive crises. Surprisingly, there were very few cases of ovarian hyperstimulation syndrome in this young patient group, which may be due to a combination of underlying vascular disease, lower peak estradiol levels, and slightly less eggs retrieved then would be expected compared to an age-matched healthy controls.”

Any FP complication was associated with more than three VOEs in the year before controlled ovarian hyperstimulation (mean of three VOEs per patient without complications vs six per patient with complications; P = .036).

 

Higher Than Normal Need for Multiple Cycles

Reproductive endocrinologist H. Irene Su, MD, professor and co-director of the Center for OB/GYN Research Innovations at Moores Cancer Center, University of California San Diego, praised the study as “an important report” in an interview.

Su, who wasn’t involved in the research, said the percentage of patients requiring more than one cycle due to cancellation or low oocyte yield — 13% — is “higher than expected, given the young age of this cohort.”

This could reflect the hypothesis that “sickle cell crises and hypoxia adversely affect the finite number of oocytes in the ovary,” she said.

As for the study findings regarding complications, she said the rate “is very high compared to the general infertility or fertility preservation population. It would be good to learn predictors of these outcomes so that fertility and hematology clinicians can work together to stratify risk and supportive services around FP cycles. It would also be good to know if the post-retrieval VOE were unexpected given the patient’s disease activity prior to FP.”

 

Message: FP in SCD Is Feasible, Acceptable

A.D. Mishkin, MD, MPH, associate professor of psychiatry and liaison to the Blood and Marrow Transplantation Program at NewYork–Presbyterian/Columbia University Irving Medical Center, New York City, said in an interview that the study “establishes the feasibility and acceptability of oocyte harvest and preservation in a population of patients with active ongoing symptoms from SCD. It also indicates their interest in pursuing fertility preservation in the setting of frequent crises and the potential for management of ensuing complications.”

Mishkin, who didn’t take part in the research, highlighted the finding that half the patients got access to FP via public insurance or research funding. “Even in this population where most women had multiple complications in the year prior to FP, and even among patients who needed multiple retrievals, these patients wanted to go through that risk to preserve their fertility,” Mishkin said. “This is an important finding given the very limited access many individuals have to FP due to its high cost and limited insurance coverage, which is also largely state-dependent.”

There’s another factor to consider regarding SCD and FP: The potential danger of pregnancy.

Corresponding author Pecker noted that “pregnancy is high risk for people with sickle cell disease. There are very high rates of severe maternal mortality and morbidity even in high-income countries. However, some of this is modifiable with routine use of chronic transfusions during pregnancy and with high-quality and integrated expert SCD and expert maternal fetal medicine care during pregnancy.”

The National Institutes of Health supported the research. Pecker reported receiving research funding from Alexion, Novartis, and Aummune and consulting for Novo Nordisk. Other authors reported no disclosures. Su and Mishkin reported no disclosures.

 

A version of this article appeared on Medscape.com.

— Significant complications were common in female patients with sickle cell disease (SCD) who underwent fertility preservation (FP) procedures, and 13% required multiple retrieval cycles, a five-center retrospective study found.

Of 46 patients with SCD, complications occurred in 25 of 55 controlled ovarian hyperstimulation cycles, including 29 vaso-occlusive episodes (VOEs), researchers reported at the American Society of Hematology (ASH) 2024 Annual Meeting.

Of 21 post-retrieval VOEs, 19 required emergency department care or hospitalization.

“Baseline sickle cell disease severity is most likely associated with a patient’s risk of complications from an egg retrieval cycle,” study co-author Sarah Cromack, MD, a reproductive endocrinology and infertility fellow at Northwestern University, Chicago, said in an interview.

“Both hematologists and reproductive endocrinologists can use this information to plan ahead and anticipate possible issues, check blood counts prior to and after egg retrieval to see if transfusion is needed, and plan close follow-up during stimulation and immediately after egg retrieval to evaluate and treat pain.”

 

SCD Accelerates Decline in Ovarian Reserve

Pediatric hematologist Lydia H. Pecker, MD, MS, of Johns Hopkins University School of Medicine, Baltimore, the study’s corresponding author, said in an interview that SCD is “a disease of accelerated aging” that leads to accelerated decline in ovarian reserve. “The common indication for fertility preservation in SCD is before bone marrow transplant or gene therapy,” she said, although FP can also be offered to other patients with SCD.

According to Cromack, researchers launched the study to expand information about SCD and FP in light of sparse data about outcomes.

All the 46 patients had hemoglobin SS (HbSS, 93%) and HbSβ0-thalassemia (7%) and a median age of 23.7 (18-28) years. Almost all (44 patients) underwent FP prior to curative treatments, and all had at least one SCD-related complication, mainly cerebrovascular disease (16), acute chest syndrome (23), and more than two VOEs per year (31).

Median anti-Mullerian hormone (AMH) level (2.1 ng/mL), a measurement of ovarian reserve, was lower than the expected level of 2.8-3.4 ng/mL among women in the age range of the patients, the researchers reported. “This is consistent with previous studies showing lower AMH for age in women with sickle cell disease,” Pecker said.

 

Complications in 45% of Retrieval Cycles

“In terms of success of oocyte cryopreservation, the median number of mature eggs frozen was 11,” said co-author and reproductive endocrinologist Jessica Walter, MD, of Northwestern University, in an interview. “Given the average age of 24 years in the cohort, this would give each patient about a 70% estimated probability of at least one live birth from their cohort of frozen eggs. Thus, patients hoping for more than one child may want to consider more than one cycle of egg freezing.”

The rate of complications was “fairly high” at 45% of all cycles, Walter said. “These were mostly complications from underlying sickle cell disease, including unplanned transfusions and admissions for vaso-occlusive crises. Surprisingly, there were very few cases of ovarian hyperstimulation syndrome in this young patient group, which may be due to a combination of underlying vascular disease, lower peak estradiol levels, and slightly less eggs retrieved then would be expected compared to an age-matched healthy controls.”

Any FP complication was associated with more than three VOEs in the year before controlled ovarian hyperstimulation (mean of three VOEs per patient without complications vs six per patient with complications; P = .036).

 

Higher Than Normal Need for Multiple Cycles

Reproductive endocrinologist H. Irene Su, MD, professor and co-director of the Center for OB/GYN Research Innovations at Moores Cancer Center, University of California San Diego, praised the study as “an important report” in an interview.

Su, who wasn’t involved in the research, said the percentage of patients requiring more than one cycle due to cancellation or low oocyte yield — 13% — is “higher than expected, given the young age of this cohort.”

This could reflect the hypothesis that “sickle cell crises and hypoxia adversely affect the finite number of oocytes in the ovary,” she said.

As for the study findings regarding complications, she said the rate “is very high compared to the general infertility or fertility preservation population. It would be good to learn predictors of these outcomes so that fertility and hematology clinicians can work together to stratify risk and supportive services around FP cycles. It would also be good to know if the post-retrieval VOE were unexpected given the patient’s disease activity prior to FP.”

 

Message: FP in SCD Is Feasible, Acceptable

A.D. Mishkin, MD, MPH, associate professor of psychiatry and liaison to the Blood and Marrow Transplantation Program at NewYork–Presbyterian/Columbia University Irving Medical Center, New York City, said in an interview that the study “establishes the feasibility and acceptability of oocyte harvest and preservation in a population of patients with active ongoing symptoms from SCD. It also indicates their interest in pursuing fertility preservation in the setting of frequent crises and the potential for management of ensuing complications.”

Mishkin, who didn’t take part in the research, highlighted the finding that half the patients got access to FP via public insurance or research funding. “Even in this population where most women had multiple complications in the year prior to FP, and even among patients who needed multiple retrievals, these patients wanted to go through that risk to preserve their fertility,” Mishkin said. “This is an important finding given the very limited access many individuals have to FP due to its high cost and limited insurance coverage, which is also largely state-dependent.”

There’s another factor to consider regarding SCD and FP: The potential danger of pregnancy.

Corresponding author Pecker noted that “pregnancy is high risk for people with sickle cell disease. There are very high rates of severe maternal mortality and morbidity even in high-income countries. However, some of this is modifiable with routine use of chronic transfusions during pregnancy and with high-quality and integrated expert SCD and expert maternal fetal medicine care during pregnancy.”

The National Institutes of Health supported the research. Pecker reported receiving research funding from Alexion, Novartis, and Aummune and consulting for Novo Nordisk. Other authors reported no disclosures. Su and Mishkin reported no disclosures.

 

A version of this article appeared on Medscape.com.

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Scurvy: A Diagnosis Still Relevant Today

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“Petechial rash often prompts further investigation into hematological, dermatological, or vasculitis causes. However, if the above investigations are negative and skin biopsy has not revealed a cause, there is a Renaissance-era diagnosis that is often overlooked but is easily investigated and treated,” wrote Andrew Dermawan, MD, and colleagues from Sir Charles Gairdner Hospital in Nedlands, Australia, in BMJ Case Reports. The diagnosis they highlight is scurvy, a disease that has faded from common medical concern but is reemerging, partly because of the rise in bariatric surgery.

Diagnosing Scurvy in the 2020s

In their article, Dermawan and colleagues present the case of a 50-year-old man with a bilateral petechial rash on his lower limbs, without any history of trauma. The patient, who exhibited no infectious symptoms, also had gross hematuria, microcytic anemia, mild neutropenia, and lymphopenia. Tests for autoimmune and hematological diseases were negative, as were abdominal and leg CT scans, ruling out abdominal hemorrhage and vasculitis. Additionally, a skin biopsy showed no causative findings.

The doctors noted that the patient had undergone sleeve gastrectomy, prompting them to inquire about his diet. They discovered that, because of financial difficulties, his diet primarily consisted of processed foods with little to no fruits or vegetables, and he had stopped taking supplements recommended by his gastroenterologist. Further tests revealed a vitamin D deficiency and a severe deficiency in vitamin C. With the diagnosis of scurvy confirmed, the doctors treated the patient with 1000 mg of ascorbic acid daily, along with cholecalciferol, folic acid, and a multivitamin complex, leading to a complete resolution of his symptoms.
 

Risk Factors Then and Now

Scurvy can present with a range of symptoms, including petechiae, perifollicular hemorrhage, ecchymosis, gingivitis, edema, anemia, delayed wound healing, malaise, weakness, joint swelling, arthralgia, anorexia, neuropathy, and vasomotor instability. It can cause mucosal and gastric hemorrhages, and if left untreated, it can lead to fatal bleeding.

Historically known as “sailors’ disease,” scurvy plagued men on long voyages who lacked access to fresh fruits or vegetables and thus did not get enough vitamin C. In 1747, James Lind, a British physician in the Royal Navy, demonstrated that the consumption of oranges and lemons could combat scurvy.

Today’s risk factors for scurvy include malnutrition, gastrointestinal disorders (eg, chronic inflammatory bowel diseases), alcohol and tobacco use, eating disorders, psychiatric illnesses, dialysis, and the use of medications that reduce the absorption of ascorbic acid (such as corticosteroids and proton pump inhibitors).

Scurvy remains more common among individuals with unfavorable socioeconomic conditions. The authors of the study emphasize how the rising cost of living — specifically in Australia but applicable elsewhere — is changing eating habits, leading to a high consumption of low-cost, nutritionally poor foods.

Poverty has always been a risk factor for scurvy, but today there may be an additional cause: bariatric surgery. Patients undergoing these procedures are at a risk for deficiencies in fat-soluble vitamins A, D, E, and K, and if their diet is inadequate, they may also experience a vitamin C deficiency. Awareness of this can facilitate the timely diagnosis of scurvy in these patients.

This story was translated from Univadis Italy using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

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“Petechial rash often prompts further investigation into hematological, dermatological, or vasculitis causes. However, if the above investigations are negative and skin biopsy has not revealed a cause, there is a Renaissance-era diagnosis that is often overlooked but is easily investigated and treated,” wrote Andrew Dermawan, MD, and colleagues from Sir Charles Gairdner Hospital in Nedlands, Australia, in BMJ Case Reports. The diagnosis they highlight is scurvy, a disease that has faded from common medical concern but is reemerging, partly because of the rise in bariatric surgery.

Diagnosing Scurvy in the 2020s

In their article, Dermawan and colleagues present the case of a 50-year-old man with a bilateral petechial rash on his lower limbs, without any history of trauma. The patient, who exhibited no infectious symptoms, also had gross hematuria, microcytic anemia, mild neutropenia, and lymphopenia. Tests for autoimmune and hematological diseases were negative, as were abdominal and leg CT scans, ruling out abdominal hemorrhage and vasculitis. Additionally, a skin biopsy showed no causative findings.

The doctors noted that the patient had undergone sleeve gastrectomy, prompting them to inquire about his diet. They discovered that, because of financial difficulties, his diet primarily consisted of processed foods with little to no fruits or vegetables, and he had stopped taking supplements recommended by his gastroenterologist. Further tests revealed a vitamin D deficiency and a severe deficiency in vitamin C. With the diagnosis of scurvy confirmed, the doctors treated the patient with 1000 mg of ascorbic acid daily, along with cholecalciferol, folic acid, and a multivitamin complex, leading to a complete resolution of his symptoms.
 

Risk Factors Then and Now

Scurvy can present with a range of symptoms, including petechiae, perifollicular hemorrhage, ecchymosis, gingivitis, edema, anemia, delayed wound healing, malaise, weakness, joint swelling, arthralgia, anorexia, neuropathy, and vasomotor instability. It can cause mucosal and gastric hemorrhages, and if left untreated, it can lead to fatal bleeding.

Historically known as “sailors’ disease,” scurvy plagued men on long voyages who lacked access to fresh fruits or vegetables and thus did not get enough vitamin C. In 1747, James Lind, a British physician in the Royal Navy, demonstrated that the consumption of oranges and lemons could combat scurvy.

Today’s risk factors for scurvy include malnutrition, gastrointestinal disorders (eg, chronic inflammatory bowel diseases), alcohol and tobacco use, eating disorders, psychiatric illnesses, dialysis, and the use of medications that reduce the absorption of ascorbic acid (such as corticosteroids and proton pump inhibitors).

Scurvy remains more common among individuals with unfavorable socioeconomic conditions. The authors of the study emphasize how the rising cost of living — specifically in Australia but applicable elsewhere — is changing eating habits, leading to a high consumption of low-cost, nutritionally poor foods.

Poverty has always been a risk factor for scurvy, but today there may be an additional cause: bariatric surgery. Patients undergoing these procedures are at a risk for deficiencies in fat-soluble vitamins A, D, E, and K, and if their diet is inadequate, they may also experience a vitamin C deficiency. Awareness of this can facilitate the timely diagnosis of scurvy in these patients.

This story was translated from Univadis Italy using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

“Petechial rash often prompts further investigation into hematological, dermatological, or vasculitis causes. However, if the above investigations are negative and skin biopsy has not revealed a cause, there is a Renaissance-era diagnosis that is often overlooked but is easily investigated and treated,” wrote Andrew Dermawan, MD, and colleagues from Sir Charles Gairdner Hospital in Nedlands, Australia, in BMJ Case Reports. The diagnosis they highlight is scurvy, a disease that has faded from common medical concern but is reemerging, partly because of the rise in bariatric surgery.

Diagnosing Scurvy in the 2020s

In their article, Dermawan and colleagues present the case of a 50-year-old man with a bilateral petechial rash on his lower limbs, without any history of trauma. The patient, who exhibited no infectious symptoms, also had gross hematuria, microcytic anemia, mild neutropenia, and lymphopenia. Tests for autoimmune and hematological diseases were negative, as were abdominal and leg CT scans, ruling out abdominal hemorrhage and vasculitis. Additionally, a skin biopsy showed no causative findings.

The doctors noted that the patient had undergone sleeve gastrectomy, prompting them to inquire about his diet. They discovered that, because of financial difficulties, his diet primarily consisted of processed foods with little to no fruits or vegetables, and he had stopped taking supplements recommended by his gastroenterologist. Further tests revealed a vitamin D deficiency and a severe deficiency in vitamin C. With the diagnosis of scurvy confirmed, the doctors treated the patient with 1000 mg of ascorbic acid daily, along with cholecalciferol, folic acid, and a multivitamin complex, leading to a complete resolution of his symptoms.
 

Risk Factors Then and Now

Scurvy can present with a range of symptoms, including petechiae, perifollicular hemorrhage, ecchymosis, gingivitis, edema, anemia, delayed wound healing, malaise, weakness, joint swelling, arthralgia, anorexia, neuropathy, and vasomotor instability. It can cause mucosal and gastric hemorrhages, and if left untreated, it can lead to fatal bleeding.

Historically known as “sailors’ disease,” scurvy plagued men on long voyages who lacked access to fresh fruits or vegetables and thus did not get enough vitamin C. In 1747, James Lind, a British physician in the Royal Navy, demonstrated that the consumption of oranges and lemons could combat scurvy.

Today’s risk factors for scurvy include malnutrition, gastrointestinal disorders (eg, chronic inflammatory bowel diseases), alcohol and tobacco use, eating disorders, psychiatric illnesses, dialysis, and the use of medications that reduce the absorption of ascorbic acid (such as corticosteroids and proton pump inhibitors).

Scurvy remains more common among individuals with unfavorable socioeconomic conditions. The authors of the study emphasize how the rising cost of living — specifically in Australia but applicable elsewhere — is changing eating habits, leading to a high consumption of low-cost, nutritionally poor foods.

Poverty has always been a risk factor for scurvy, but today there may be an additional cause: bariatric surgery. Patients undergoing these procedures are at a risk for deficiencies in fat-soluble vitamins A, D, E, and K, and if their diet is inadequate, they may also experience a vitamin C deficiency. Awareness of this can facilitate the timely diagnosis of scurvy in these patients.

This story was translated from Univadis Italy using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

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Ferritin Cutoff Values Affect Diagnosis of Iron Deficiency

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Ferritin is the parameter most often used in primary care to diagnose iron deficiency. The cutoff value of ferritin can affect the number of cases diagnosed, however. A study published in JAMA Network Open  investigated how different cutoff values affect the diagnosis of iron deficiency.

The study, which included 255,351 adult primary care patients in Switzerland, showed that ferritin cutoff values of 15, 30, and 45 ng/mL were associated with incidences of iron deficiency diagnoses of 10.9, 29.9, and 48.3 cases per 1000 patient-years, respectively. In other words, as the cutoff value increases, the frequency of diagnosis also increases.

“It is a study to take into account, especially because of the number of patients it includes, and it can guide primary care clinical practice. As expected, as the cutoff point increases with respect to ferritin values, the incidence percentages of both iron deficiency and iron-deficiency anemia also increase,” Miguel Turégano-Yedro, MD, a family physician at the Casar de Cáceres Health Center in Spain, and coordinator of the Hematology Working Group of the Spanish Society of Primary Care Physicians, told this news organization. Ferritin is the most sensitive parameter for diagnosing iron deficiency and iron-deficiency anemia, he added. “When it is necessary to supplement a patient with iron, other parameters are taken into account, such as hemoglobin, to see if there is anemia.”
 

Ferritin Level

The ferritin level associated with iron deficiency in primary care is usually 15 ng/mL, said Dr. Turégano-Yedro. “If we assess patients with a ferritin level of 15 or less than 15, then we know that many cases will be symptomatic (with fatigue, tiredness, or lack of appetite) and, therefore, will need iron treatment. But if the ferritin cutoff value is increased to 30 ng/mL or 45 ng/mL, the incidence will be higher, although in many cases they will be asymptomatic and iron supplementation will not be necessary.”

He also pointed out that he does not consider it necessary to raise the cutoff to 45 ng/mL; however, “establishing the cutoff at 30 ng/mL, in a certain population at risk of iron deficiency or iron-deficiency anemia, may be interesting, for example in women of childbearing age, women with very heavy menstruation, children, frail elderly, people with gastrointestinal bleeding, or those who engage in physical exercise.”

Iron deficiency must be distinguished from anemia. “If the ferritin is below 15 ng/mL, there is iron deficiency, which may or may not be accompanied by symptoms, although usually most patients will have symptoms. Normally, to diagnose a patient with iron-deficiency anemia, on the one hand, they must have low hemoglobin, which indicates anemia, and on the other hand, low ferritin, which indicates iron deficiency.” Taking these parameters into account, the study does have a weakness. “It is striking that a percentage of patients in the study requested ferritin analysis without including hemoglobin, when hemoglobin is part of the basic analysis performed in Spain,” said Dr. Turégano-Yedro.
 

When to Supplement

The study highlights the incidence of nonanemic iron deficiency diagnoses associated with the choice of ferritin cutoff value. However, as Dr. Turégano-Yedro explained, the percentage of patients who have iron deficiency but do not have anemia is not very relevant. “In the case of family physicians in Spain, it is not usually taken into account, because if a patient has iron deficiency with or without anemia and is symptomatic, they should be given iron supplements.”

What if they do not have a deficiency but do have anemia? “In principle, iron supplementation is not necessary, because that anemia may be due to chronic disorders or it may be hemolytic anemia, so the case should be studied,” Dr. Turégano-Yedro concluded.

This story was translated from Univadis Spain, which is part of the Medscape Professional Network, using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

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Ferritin is the parameter most often used in primary care to diagnose iron deficiency. The cutoff value of ferritin can affect the number of cases diagnosed, however. A study published in JAMA Network Open  investigated how different cutoff values affect the diagnosis of iron deficiency.

The study, which included 255,351 adult primary care patients in Switzerland, showed that ferritin cutoff values of 15, 30, and 45 ng/mL were associated with incidences of iron deficiency diagnoses of 10.9, 29.9, and 48.3 cases per 1000 patient-years, respectively. In other words, as the cutoff value increases, the frequency of diagnosis also increases.

“It is a study to take into account, especially because of the number of patients it includes, and it can guide primary care clinical practice. As expected, as the cutoff point increases with respect to ferritin values, the incidence percentages of both iron deficiency and iron-deficiency anemia also increase,” Miguel Turégano-Yedro, MD, a family physician at the Casar de Cáceres Health Center in Spain, and coordinator of the Hematology Working Group of the Spanish Society of Primary Care Physicians, told this news organization. Ferritin is the most sensitive parameter for diagnosing iron deficiency and iron-deficiency anemia, he added. “When it is necessary to supplement a patient with iron, other parameters are taken into account, such as hemoglobin, to see if there is anemia.”
 

Ferritin Level

The ferritin level associated with iron deficiency in primary care is usually 15 ng/mL, said Dr. Turégano-Yedro. “If we assess patients with a ferritin level of 15 or less than 15, then we know that many cases will be symptomatic (with fatigue, tiredness, or lack of appetite) and, therefore, will need iron treatment. But if the ferritin cutoff value is increased to 30 ng/mL or 45 ng/mL, the incidence will be higher, although in many cases they will be asymptomatic and iron supplementation will not be necessary.”

He also pointed out that he does not consider it necessary to raise the cutoff to 45 ng/mL; however, “establishing the cutoff at 30 ng/mL, in a certain population at risk of iron deficiency or iron-deficiency anemia, may be interesting, for example in women of childbearing age, women with very heavy menstruation, children, frail elderly, people with gastrointestinal bleeding, or those who engage in physical exercise.”

Iron deficiency must be distinguished from anemia. “If the ferritin is below 15 ng/mL, there is iron deficiency, which may or may not be accompanied by symptoms, although usually most patients will have symptoms. Normally, to diagnose a patient with iron-deficiency anemia, on the one hand, they must have low hemoglobin, which indicates anemia, and on the other hand, low ferritin, which indicates iron deficiency.” Taking these parameters into account, the study does have a weakness. “It is striking that a percentage of patients in the study requested ferritin analysis without including hemoglobin, when hemoglobin is part of the basic analysis performed in Spain,” said Dr. Turégano-Yedro.
 

When to Supplement

The study highlights the incidence of nonanemic iron deficiency diagnoses associated with the choice of ferritin cutoff value. However, as Dr. Turégano-Yedro explained, the percentage of patients who have iron deficiency but do not have anemia is not very relevant. “In the case of family physicians in Spain, it is not usually taken into account, because if a patient has iron deficiency with or without anemia and is symptomatic, they should be given iron supplements.”

What if they do not have a deficiency but do have anemia? “In principle, iron supplementation is not necessary, because that anemia may be due to chronic disorders or it may be hemolytic anemia, so the case should be studied,” Dr. Turégano-Yedro concluded.

This story was translated from Univadis Spain, which is part of the Medscape Professional Network, using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

Ferritin is the parameter most often used in primary care to diagnose iron deficiency. The cutoff value of ferritin can affect the number of cases diagnosed, however. A study published in JAMA Network Open  investigated how different cutoff values affect the diagnosis of iron deficiency.

The study, which included 255,351 adult primary care patients in Switzerland, showed that ferritin cutoff values of 15, 30, and 45 ng/mL were associated with incidences of iron deficiency diagnoses of 10.9, 29.9, and 48.3 cases per 1000 patient-years, respectively. In other words, as the cutoff value increases, the frequency of diagnosis also increases.

“It is a study to take into account, especially because of the number of patients it includes, and it can guide primary care clinical practice. As expected, as the cutoff point increases with respect to ferritin values, the incidence percentages of both iron deficiency and iron-deficiency anemia also increase,” Miguel Turégano-Yedro, MD, a family physician at the Casar de Cáceres Health Center in Spain, and coordinator of the Hematology Working Group of the Spanish Society of Primary Care Physicians, told this news organization. Ferritin is the most sensitive parameter for diagnosing iron deficiency and iron-deficiency anemia, he added. “When it is necessary to supplement a patient with iron, other parameters are taken into account, such as hemoglobin, to see if there is anemia.”
 

Ferritin Level

The ferritin level associated with iron deficiency in primary care is usually 15 ng/mL, said Dr. Turégano-Yedro. “If we assess patients with a ferritin level of 15 or less than 15, then we know that many cases will be symptomatic (with fatigue, tiredness, or lack of appetite) and, therefore, will need iron treatment. But if the ferritin cutoff value is increased to 30 ng/mL or 45 ng/mL, the incidence will be higher, although in many cases they will be asymptomatic and iron supplementation will not be necessary.”

He also pointed out that he does not consider it necessary to raise the cutoff to 45 ng/mL; however, “establishing the cutoff at 30 ng/mL, in a certain population at risk of iron deficiency or iron-deficiency anemia, may be interesting, for example in women of childbearing age, women with very heavy menstruation, children, frail elderly, people with gastrointestinal bleeding, or those who engage in physical exercise.”

Iron deficiency must be distinguished from anemia. “If the ferritin is below 15 ng/mL, there is iron deficiency, which may or may not be accompanied by symptoms, although usually most patients will have symptoms. Normally, to diagnose a patient with iron-deficiency anemia, on the one hand, they must have low hemoglobin, which indicates anemia, and on the other hand, low ferritin, which indicates iron deficiency.” Taking these parameters into account, the study does have a weakness. “It is striking that a percentage of patients in the study requested ferritin analysis without including hemoglobin, when hemoglobin is part of the basic analysis performed in Spain,” said Dr. Turégano-Yedro.
 

When to Supplement

The study highlights the incidence of nonanemic iron deficiency diagnoses associated with the choice of ferritin cutoff value. However, as Dr. Turégano-Yedro explained, the percentage of patients who have iron deficiency but do not have anemia is not very relevant. “In the case of family physicians in Spain, it is not usually taken into account, because if a patient has iron deficiency with or without anemia and is symptomatic, they should be given iron supplements.”

What if they do not have a deficiency but do have anemia? “In principle, iron supplementation is not necessary, because that anemia may be due to chronic disorders or it may be hemolytic anemia, so the case should be studied,” Dr. Turégano-Yedro concluded.

This story was translated from Univadis Spain, which is part of the Medscape Professional Network, using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

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Nearly 1 in 3 US Adults May Have Low Iron Levels

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Fri, 09/27/2024 - 11:46

Nearly one-third of US adults may have low iron levels that can add to problems ranging from fatigue to heart failure. 

Researchers in a new study estimated that 7% of US adults have anemia, a blood disorder that can be iron related and is particularly well-known in part because of screenings given during pregnancy. But more striking was the finding in this latest study that a significant portion of the population may have less severe iron deficiencies that have been linked to serious health problems.

The body gets iron from food, and it can store iron for times when there isn’t enough it can access right away. The research team looked at test results that show whether people have enough iron stored, as well as whether their bodies could effectively use available iron. If you don’t have enough iron stored, you have a condition called absolute iron deficiency. And if you have stored iron but problems using it, you have what’s called functional iron deficiency. The study found that an estimated 14% of adults have absolute iron deficiency, and another 15% have functional iron deficiency.

The findings, published in JAMA Network Open, are based on data from more than 8,000 people who had laboratory iron levels on file as part of the National Health and Nutrition Examination Survey that was done from 2017 to 2020.

Besides anemia, iron deficiency is linked to other serious health problems, including restless legs syndrome, mental and thinking difficulties, reduced physical abilities, and heart failure, the authors noted. The effects of iron deficiency can significantly impact a person’s quality of life.

Routine blood work as part of an annual physical doesn’t typically include a check of iron levels unless there is a cause for concern. The out-of-pocket cost without using insurance for a blood test to check iron levels is typically around $60. 

“This is a common yet underappreciated public health problem,” study author Leo Buckley, PharmD, MPH, a clinical pharmacology specialist at Brigham and Women’s Hospital in Boston, Massachusetts, told NBC News. “What’s unique about our study is we were looking at regular people who would not otherwise have been screened or tested.”

Treatment for low iron levels can include changes to your diet, as well as intravenous or oral supplements. Taking an iron supplement should be done under the guidance of a health care provider because of the risk of iron toxicity.

A version of this article first appeared on WebMD.com.

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Nearly one-third of US adults may have low iron levels that can add to problems ranging from fatigue to heart failure. 

Researchers in a new study estimated that 7% of US adults have anemia, a blood disorder that can be iron related and is particularly well-known in part because of screenings given during pregnancy. But more striking was the finding in this latest study that a significant portion of the population may have less severe iron deficiencies that have been linked to serious health problems.

The body gets iron from food, and it can store iron for times when there isn’t enough it can access right away. The research team looked at test results that show whether people have enough iron stored, as well as whether their bodies could effectively use available iron. If you don’t have enough iron stored, you have a condition called absolute iron deficiency. And if you have stored iron but problems using it, you have what’s called functional iron deficiency. The study found that an estimated 14% of adults have absolute iron deficiency, and another 15% have functional iron deficiency.

The findings, published in JAMA Network Open, are based on data from more than 8,000 people who had laboratory iron levels on file as part of the National Health and Nutrition Examination Survey that was done from 2017 to 2020.

Besides anemia, iron deficiency is linked to other serious health problems, including restless legs syndrome, mental and thinking difficulties, reduced physical abilities, and heart failure, the authors noted. The effects of iron deficiency can significantly impact a person’s quality of life.

Routine blood work as part of an annual physical doesn’t typically include a check of iron levels unless there is a cause for concern. The out-of-pocket cost without using insurance for a blood test to check iron levels is typically around $60. 

“This is a common yet underappreciated public health problem,” study author Leo Buckley, PharmD, MPH, a clinical pharmacology specialist at Brigham and Women’s Hospital in Boston, Massachusetts, told NBC News. “What’s unique about our study is we were looking at regular people who would not otherwise have been screened or tested.”

Treatment for low iron levels can include changes to your diet, as well as intravenous or oral supplements. Taking an iron supplement should be done under the guidance of a health care provider because of the risk of iron toxicity.

A version of this article first appeared on WebMD.com.

Nearly one-third of US adults may have low iron levels that can add to problems ranging from fatigue to heart failure. 

Researchers in a new study estimated that 7% of US adults have anemia, a blood disorder that can be iron related and is particularly well-known in part because of screenings given during pregnancy. But more striking was the finding in this latest study that a significant portion of the population may have less severe iron deficiencies that have been linked to serious health problems.

The body gets iron from food, and it can store iron for times when there isn’t enough it can access right away. The research team looked at test results that show whether people have enough iron stored, as well as whether their bodies could effectively use available iron. If you don’t have enough iron stored, you have a condition called absolute iron deficiency. And if you have stored iron but problems using it, you have what’s called functional iron deficiency. The study found that an estimated 14% of adults have absolute iron deficiency, and another 15% have functional iron deficiency.

The findings, published in JAMA Network Open, are based on data from more than 8,000 people who had laboratory iron levels on file as part of the National Health and Nutrition Examination Survey that was done from 2017 to 2020.

Besides anemia, iron deficiency is linked to other serious health problems, including restless legs syndrome, mental and thinking difficulties, reduced physical abilities, and heart failure, the authors noted. The effects of iron deficiency can significantly impact a person’s quality of life.

Routine blood work as part of an annual physical doesn’t typically include a check of iron levels unless there is a cause for concern. The out-of-pocket cost without using insurance for a blood test to check iron levels is typically around $60. 

“This is a common yet underappreciated public health problem,” study author Leo Buckley, PharmD, MPH, a clinical pharmacology specialist at Brigham and Women’s Hospital in Boston, Massachusetts, told NBC News. “What’s unique about our study is we were looking at regular people who would not otherwise have been screened or tested.”

Treatment for low iron levels can include changes to your diet, as well as intravenous or oral supplements. Taking an iron supplement should be done under the guidance of a health care provider because of the risk of iron toxicity.

A version of this article first appeared on WebMD.com.

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Is Intravenous Iron More Effective Than Oral Iron for Anemia During Pregnancy?

Article Type
Changed
Mon, 09/23/2024 - 10:41

 

TOPLINE: 

Intravenous iron reduced iron deficiency more effectively than oral iron, which is often distasteful, among pregnant women in Nigeria. However, no significant difference was found in the prevalence of anemia or preterm birth between the two groups.

METHODOLOGY:

  • A total of 1056 pregnant women aged 15-49 years with hemoglobin concentrations 10 g/dL at 20-32 weeks’ gestation were included in the trial.
  • Participants were randomly assigned to receive either a single dose of intravenous ferric carboxymaltose (20 mg/kg to a maximum of 1000 mg) or oral ferrous sulphate (200 mg; 65 mg elemental iron) three times daily until 6 weeks postpartum.
  • Primary outcomes were maternal anemia (hemoglobin, < 11 g/dL) at 36 weeks’ gestation and preterm birth before 37 weeks’ gestation.
  • Secondary outcomes were iron deficiency, iron deficiency anemia, maternal depression, infections, immunization, and breastfeeding practices.
  • The trial was conducted in 11 health facilities in Lagos and Kano, Nigeria, with follow-up visits at 2 weeks and 6 weeks postpartum.

TAKEAWAY:

  • No significant difference was found in the prevalence of anemia at 36 weeks’ gestation between the intravenous and oral iron groups (58% vs 61%; P = .36).
  • Intravenous iron was more effective at reducing iron deficiency (5% vs 16%; P = .0001) and iron deficiency anemia (2% vs 10%; P = .0001) at 36 weeks’ gestation.
  • The incidence of preterm birth did not significantly differ between the intravenous and oral iron groups (14% vs 15%; P = .66).
  • Intravenous iron led to a higher mean hemoglobin concentration from baseline to 4 weeks in both iron-deficient and non–iron-deficient subgroups.

IN PRACTICE:

“Although the effect on overall anaemia did not differ, intravenous iron reduced the prevalence of iron deficiency to a greater extent than oral iron and was considered to be safe. We recommend that intravenous iron be considered for anaemic pregnant women in Nigeria and similar settings,” wrote the authors of the study.

SOURCE:

This study was led by Bosede B. Afolabi, Department of Obstetrics and Gynaecology, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Nigeria. It was published online in The Lancet Global Health.

LIMITATIONS:

The study’s sample size estimation assumed a 25% rate of preterm births, but the actual rate was only 14.5%, which potentially underpowered the study to measure this outcome. Most participants were enrolled after 20 weeks’ gestation, which limited the ability to explore the effect of treatment duration. The interpretation of postpartum hemorrhage was limited by the use of visual assessment to determine blood loss, which is subjective.

DISCLOSURES:

A coathor, Kristi S. Annerstedt, PhD, reported participation on the ALERT project Data Safety Monitoring Board. Additional disclosures are noted in the original article. The study was supported by grants from the Bill & Melinda Gates Foundation.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article first appeared on Medscape.com.

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TOPLINE: 

Intravenous iron reduced iron deficiency more effectively than oral iron, which is often distasteful, among pregnant women in Nigeria. However, no significant difference was found in the prevalence of anemia or preterm birth between the two groups.

METHODOLOGY:

  • A total of 1056 pregnant women aged 15-49 years with hemoglobin concentrations 10 g/dL at 20-32 weeks’ gestation were included in the trial.
  • Participants were randomly assigned to receive either a single dose of intravenous ferric carboxymaltose (20 mg/kg to a maximum of 1000 mg) or oral ferrous sulphate (200 mg; 65 mg elemental iron) three times daily until 6 weeks postpartum.
  • Primary outcomes were maternal anemia (hemoglobin, < 11 g/dL) at 36 weeks’ gestation and preterm birth before 37 weeks’ gestation.
  • Secondary outcomes were iron deficiency, iron deficiency anemia, maternal depression, infections, immunization, and breastfeeding practices.
  • The trial was conducted in 11 health facilities in Lagos and Kano, Nigeria, with follow-up visits at 2 weeks and 6 weeks postpartum.

TAKEAWAY:

  • No significant difference was found in the prevalence of anemia at 36 weeks’ gestation between the intravenous and oral iron groups (58% vs 61%; P = .36).
  • Intravenous iron was more effective at reducing iron deficiency (5% vs 16%; P = .0001) and iron deficiency anemia (2% vs 10%; P = .0001) at 36 weeks’ gestation.
  • The incidence of preterm birth did not significantly differ between the intravenous and oral iron groups (14% vs 15%; P = .66).
  • Intravenous iron led to a higher mean hemoglobin concentration from baseline to 4 weeks in both iron-deficient and non–iron-deficient subgroups.

IN PRACTICE:

“Although the effect on overall anaemia did not differ, intravenous iron reduced the prevalence of iron deficiency to a greater extent than oral iron and was considered to be safe. We recommend that intravenous iron be considered for anaemic pregnant women in Nigeria and similar settings,” wrote the authors of the study.

SOURCE:

This study was led by Bosede B. Afolabi, Department of Obstetrics and Gynaecology, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Nigeria. It was published online in The Lancet Global Health.

LIMITATIONS:

The study’s sample size estimation assumed a 25% rate of preterm births, but the actual rate was only 14.5%, which potentially underpowered the study to measure this outcome. Most participants were enrolled after 20 weeks’ gestation, which limited the ability to explore the effect of treatment duration. The interpretation of postpartum hemorrhage was limited by the use of visual assessment to determine blood loss, which is subjective.

DISCLOSURES:

A coathor, Kristi S. Annerstedt, PhD, reported participation on the ALERT project Data Safety Monitoring Board. Additional disclosures are noted in the original article. The study was supported by grants from the Bill & Melinda Gates Foundation.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article first appeared on Medscape.com.

 

TOPLINE: 

Intravenous iron reduced iron deficiency more effectively than oral iron, which is often distasteful, among pregnant women in Nigeria. However, no significant difference was found in the prevalence of anemia or preterm birth between the two groups.

METHODOLOGY:

  • A total of 1056 pregnant women aged 15-49 years with hemoglobin concentrations 10 g/dL at 20-32 weeks’ gestation were included in the trial.
  • Participants were randomly assigned to receive either a single dose of intravenous ferric carboxymaltose (20 mg/kg to a maximum of 1000 mg) or oral ferrous sulphate (200 mg; 65 mg elemental iron) three times daily until 6 weeks postpartum.
  • Primary outcomes were maternal anemia (hemoglobin, < 11 g/dL) at 36 weeks’ gestation and preterm birth before 37 weeks’ gestation.
  • Secondary outcomes were iron deficiency, iron deficiency anemia, maternal depression, infections, immunization, and breastfeeding practices.
  • The trial was conducted in 11 health facilities in Lagos and Kano, Nigeria, with follow-up visits at 2 weeks and 6 weeks postpartum.

TAKEAWAY:

  • No significant difference was found in the prevalence of anemia at 36 weeks’ gestation between the intravenous and oral iron groups (58% vs 61%; P = .36).
  • Intravenous iron was more effective at reducing iron deficiency (5% vs 16%; P = .0001) and iron deficiency anemia (2% vs 10%; P = .0001) at 36 weeks’ gestation.
  • The incidence of preterm birth did not significantly differ between the intravenous and oral iron groups (14% vs 15%; P = .66).
  • Intravenous iron led to a higher mean hemoglobin concentration from baseline to 4 weeks in both iron-deficient and non–iron-deficient subgroups.

IN PRACTICE:

“Although the effect on overall anaemia did not differ, intravenous iron reduced the prevalence of iron deficiency to a greater extent than oral iron and was considered to be safe. We recommend that intravenous iron be considered for anaemic pregnant women in Nigeria and similar settings,” wrote the authors of the study.

SOURCE:

This study was led by Bosede B. Afolabi, Department of Obstetrics and Gynaecology, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Nigeria. It was published online in The Lancet Global Health.

LIMITATIONS:

The study’s sample size estimation assumed a 25% rate of preterm births, but the actual rate was only 14.5%, which potentially underpowered the study to measure this outcome. Most participants were enrolled after 20 weeks’ gestation, which limited the ability to explore the effect of treatment duration. The interpretation of postpartum hemorrhage was limited by the use of visual assessment to determine blood loss, which is subjective.

DISCLOSURES:

A coathor, Kristi S. Annerstedt, PhD, reported participation on the ALERT project Data Safety Monitoring Board. Additional disclosures are noted in the original article. The study was supported by grants from the Bill & Melinda Gates Foundation.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article first appeared on Medscape.com.

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Nonanemic Iron Deficiency Underdiagnosed in Women

Article Type
Changed
Fri, 06/07/2024 - 12:04

Three different definitions of nonanemic iron deficiency (ID), a common disorder causing substantial morbidity in women, were significantly associated with different population prevalence estimates, a data analysis of the cross-sectional Hemochromatosis and Iron Overload Screening Study (HEIRS) study found.

These differences held, regardless of self-reported age, pregnancy, or race and ethnicity, according to HEIRS researchers led by James C. Barton, MD, professor of hematology at the University of Alabama at Birmingham.

“Using higher serum ferritin thresholds to define ID could lead to diagnosis and treatment of more women with ID and greater reduction of related morbidity,” the investigators wrote. The study was published in JAMA Network Open.

The authors noted that ID affects about 2 billion people worldwide, mainly women and children, increasing risks of fatigue, impaired muscular performance, cold intolerance, mucosal and epithelial abnormalities, pica, disturbances of menstruation, and adverse pregnancy outcomes.

Manifestations of ID, including anemia, are less prevalent or less severe in adults with higher serum ferritin (SF), and the three definitions correspond, in sequence, to ID of increasing prevalence and decreasing severity, they explained.
 

The Study

HEIRS conducted multiethnic, primary care–based screening for iron disorders during 2001-2003 at four field centers in the United States and one in Canada at primary care venues.

In data for the current study analyzed from June to December, 2023, the three ID definitions were: combined transferrin saturation less than 10% and SF less than 15 ng/mL (HEIRS); SF less than 15 ng/mL (World Health Organization [WHO]); and SF less than 25 ng/mL, the threshold for ID-deficient erythropoiesis [IDE).

Among the cohort’s 62,685 women (mean age, 49.58 years, 27,072 White, 17,272 Black), the estimated prevalence of ID emerged as follows across the different definitions:

  • 1957 (3.12%) according to HEIRS
  • 4659 (7.43%) according to WHO
  • 9611 (15.33%) according to IDE

Those figures translated to an increased relative ID prevalence of 2.4-fold (95% CI, 2.3-2.5; P < .001) according to the WHO standard and 4.9-fold (95% CI, 4.7-5.2; P < .001) according IDEs.

In addition, prevalence was higher in younger women, and within each racial and ethnic subgroup of participants aged 25-54 years, prevalence rose significantly from the HEIRS definition to the WHO and IDE definitions.

Notably, ID was significantly higher among Black and Hispanic participants than Asian and White participants.

An accompanying editorial pointed to gender-based health equity issues raised by the HEIRS analysis and argued that a similar passive acceptance of laboratory definitions of a debilitating but correctable condition in White males would be “frankly unimaginable.”

“Iron deficiency is the leading cause of years lived with disability among women of reproductive age,” wrote hematologist Michelle Sholzberg, MDCM, MSc, and Grace H. Tang, MSc, of St. Michael’s Hospital in Toronto, Canada. “It is a factor clearly associated with maternal death and morbidity (including diminished IQ), and it is correctable, and, thus, unnecessary, in high-income, middle-income, and low-income geographic settings.”

The authors listed no specific funding for this analysis of HEIRS data. Dr. Barton reported contracts from the National Institutes of Health, National Human Genome Research Institute, outside of the submitted work. A coauthor reported grants from the National Heart, Lung, and Blood Institute and the National Human Genome Research Institute outside of the submitted work. Dr. Sholzberg reported unrestricted research funding to her institution from Octapharma and Pfizer and speakers’ honoraria from Takeda, Sobi, and Medison outside of the submitted work.

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Three different definitions of nonanemic iron deficiency (ID), a common disorder causing substantial morbidity in women, were significantly associated with different population prevalence estimates, a data analysis of the cross-sectional Hemochromatosis and Iron Overload Screening Study (HEIRS) study found.

These differences held, regardless of self-reported age, pregnancy, or race and ethnicity, according to HEIRS researchers led by James C. Barton, MD, professor of hematology at the University of Alabama at Birmingham.

“Using higher serum ferritin thresholds to define ID could lead to diagnosis and treatment of more women with ID and greater reduction of related morbidity,” the investigators wrote. The study was published in JAMA Network Open.

The authors noted that ID affects about 2 billion people worldwide, mainly women and children, increasing risks of fatigue, impaired muscular performance, cold intolerance, mucosal and epithelial abnormalities, pica, disturbances of menstruation, and adverse pregnancy outcomes.

Manifestations of ID, including anemia, are less prevalent or less severe in adults with higher serum ferritin (SF), and the three definitions correspond, in sequence, to ID of increasing prevalence and decreasing severity, they explained.
 

The Study

HEIRS conducted multiethnic, primary care–based screening for iron disorders during 2001-2003 at four field centers in the United States and one in Canada at primary care venues.

In data for the current study analyzed from June to December, 2023, the three ID definitions were: combined transferrin saturation less than 10% and SF less than 15 ng/mL (HEIRS); SF less than 15 ng/mL (World Health Organization [WHO]); and SF less than 25 ng/mL, the threshold for ID-deficient erythropoiesis [IDE).

Among the cohort’s 62,685 women (mean age, 49.58 years, 27,072 White, 17,272 Black), the estimated prevalence of ID emerged as follows across the different definitions:

  • 1957 (3.12%) according to HEIRS
  • 4659 (7.43%) according to WHO
  • 9611 (15.33%) according to IDE

Those figures translated to an increased relative ID prevalence of 2.4-fold (95% CI, 2.3-2.5; P < .001) according to the WHO standard and 4.9-fold (95% CI, 4.7-5.2; P < .001) according IDEs.

In addition, prevalence was higher in younger women, and within each racial and ethnic subgroup of participants aged 25-54 years, prevalence rose significantly from the HEIRS definition to the WHO and IDE definitions.

Notably, ID was significantly higher among Black and Hispanic participants than Asian and White participants.

An accompanying editorial pointed to gender-based health equity issues raised by the HEIRS analysis and argued that a similar passive acceptance of laboratory definitions of a debilitating but correctable condition in White males would be “frankly unimaginable.”

“Iron deficiency is the leading cause of years lived with disability among women of reproductive age,” wrote hematologist Michelle Sholzberg, MDCM, MSc, and Grace H. Tang, MSc, of St. Michael’s Hospital in Toronto, Canada. “It is a factor clearly associated with maternal death and morbidity (including diminished IQ), and it is correctable, and, thus, unnecessary, in high-income, middle-income, and low-income geographic settings.”

The authors listed no specific funding for this analysis of HEIRS data. Dr. Barton reported contracts from the National Institutes of Health, National Human Genome Research Institute, outside of the submitted work. A coauthor reported grants from the National Heart, Lung, and Blood Institute and the National Human Genome Research Institute outside of the submitted work. Dr. Sholzberg reported unrestricted research funding to her institution from Octapharma and Pfizer and speakers’ honoraria from Takeda, Sobi, and Medison outside of the submitted work.

Three different definitions of nonanemic iron deficiency (ID), a common disorder causing substantial morbidity in women, were significantly associated with different population prevalence estimates, a data analysis of the cross-sectional Hemochromatosis and Iron Overload Screening Study (HEIRS) study found.

These differences held, regardless of self-reported age, pregnancy, or race and ethnicity, according to HEIRS researchers led by James C. Barton, MD, professor of hematology at the University of Alabama at Birmingham.

“Using higher serum ferritin thresholds to define ID could lead to diagnosis and treatment of more women with ID and greater reduction of related morbidity,” the investigators wrote. The study was published in JAMA Network Open.

The authors noted that ID affects about 2 billion people worldwide, mainly women and children, increasing risks of fatigue, impaired muscular performance, cold intolerance, mucosal and epithelial abnormalities, pica, disturbances of menstruation, and adverse pregnancy outcomes.

Manifestations of ID, including anemia, are less prevalent or less severe in adults with higher serum ferritin (SF), and the three definitions correspond, in sequence, to ID of increasing prevalence and decreasing severity, they explained.
 

The Study

HEIRS conducted multiethnic, primary care–based screening for iron disorders during 2001-2003 at four field centers in the United States and one in Canada at primary care venues.

In data for the current study analyzed from June to December, 2023, the three ID definitions were: combined transferrin saturation less than 10% and SF less than 15 ng/mL (HEIRS); SF less than 15 ng/mL (World Health Organization [WHO]); and SF less than 25 ng/mL, the threshold for ID-deficient erythropoiesis [IDE).

Among the cohort’s 62,685 women (mean age, 49.58 years, 27,072 White, 17,272 Black), the estimated prevalence of ID emerged as follows across the different definitions:

  • 1957 (3.12%) according to HEIRS
  • 4659 (7.43%) according to WHO
  • 9611 (15.33%) according to IDE

Those figures translated to an increased relative ID prevalence of 2.4-fold (95% CI, 2.3-2.5; P < .001) according to the WHO standard and 4.9-fold (95% CI, 4.7-5.2; P < .001) according IDEs.

In addition, prevalence was higher in younger women, and within each racial and ethnic subgroup of participants aged 25-54 years, prevalence rose significantly from the HEIRS definition to the WHO and IDE definitions.

Notably, ID was significantly higher among Black and Hispanic participants than Asian and White participants.

An accompanying editorial pointed to gender-based health equity issues raised by the HEIRS analysis and argued that a similar passive acceptance of laboratory definitions of a debilitating but correctable condition in White males would be “frankly unimaginable.”

“Iron deficiency is the leading cause of years lived with disability among women of reproductive age,” wrote hematologist Michelle Sholzberg, MDCM, MSc, and Grace H. Tang, MSc, of St. Michael’s Hospital in Toronto, Canada. “It is a factor clearly associated with maternal death and morbidity (including diminished IQ), and it is correctable, and, thus, unnecessary, in high-income, middle-income, and low-income geographic settings.”

The authors listed no specific funding for this analysis of HEIRS data. Dr. Barton reported contracts from the National Institutes of Health, National Human Genome Research Institute, outside of the submitted work. A coauthor reported grants from the National Heart, Lung, and Blood Institute and the National Human Genome Research Institute outside of the submitted work. Dr. Sholzberg reported unrestricted research funding to her institution from Octapharma and Pfizer and speakers’ honoraria from Takeda, Sobi, and Medison outside of the submitted work.

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Red Flags for Early-Onset Colorectal Cancer Identified

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Mon, 06/10/2024 - 17:08

 

TOPLINE:

Patients with early-onset colorectal cancer (EOCRC) often present with hematochezia or abdominal pain, symptoms frequently overlooked in younger populations, leading to delays in diagnosis of 4-6 months, a new analysis showed.

METHODOLOGY:

  • As the number of cases of EOCRC, defined as colorectal cancer (CRC) diagnosed before age 50, continues to rise, early detection has become increasingly important. Improved recognition of presenting signs and symptoms associated with EOCRC could lead to a more timely diagnosis and better clinical outcomes.
  • In a systematic review and meta-analysis of 81 studies with 24.9 million EOCRC cases, researchers sought to determine the most common presenting signs and symptoms, their association with EOCRC risk, and the time from presentation to diagnosis.
  • Data extraction and quality assessment were performed independently in duplicate using PRISMA guidelines, and Joanna Briggs Institute critical appraisal tools were used to measure the risk of bias.

TAKEAWAY:

  • Hematochezia was the most common presenting sign/symptom, with a pooled prevalence of 45%, followed by abdominal pain, with a pooled prevalence of 40%.
  • Altered bowel habits, which included constipation, diarrhea, and alternating bowel habits, were the third most common presenting sign/symptom (pooled prevalence of 27%), followed by unexplained weight loss (pooled prevalence of 17%).
  • The likelihood of EOCRC was estimated to be fivefold to 54-fold higher with hematochezia and 1.3-fold to sixfold higher with abdominal pain.
  • The mean time from sign or symptom onset to EOCRC diagnosis was 6.4 months (range, 1.8-13.7 months).

IN PRACTICE:

“These findings and the increasing risk of CRC in individuals younger than 50 years highlight the urgent need to educate clinicians and patients about these signs and symptoms to ensure that diagnostic workup and resolution are not delayed. Adapting current clinical practice to identify and address these signs and symptoms through careful clinical triage and follow-up could help limit morbidity and mortality associated with EOCRC,” the authors wrote.

SOURCE:

The study, with Joshua Demb, PhD, MPH, division of gastroenterology, department of medicine, University of California, San Diego, was published online May 24 in JAMA Network Open.

LIMITATIONS:

Significant heterogeneity across studies affected the ability to meta-analyze some results. The cross-sectional data limited the ability to stratify by age, sex, race and ethnicity, or genetic ancestry. It was not possible to evaluate the impact of time to diagnosis on CRC outcomes due to a limited number of studies answering this question. Researchers were unable to examine the constellation of signs and symptoms because they lacked individual-level data from each study.

DISCLOSURES:

The authors disclosed no relevant conflicts of interest. No specific funding was disclosed.
 

A version of this article appeared on Medscape.com.

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TOPLINE:

Patients with early-onset colorectal cancer (EOCRC) often present with hematochezia or abdominal pain, symptoms frequently overlooked in younger populations, leading to delays in diagnosis of 4-6 months, a new analysis showed.

METHODOLOGY:

  • As the number of cases of EOCRC, defined as colorectal cancer (CRC) diagnosed before age 50, continues to rise, early detection has become increasingly important. Improved recognition of presenting signs and symptoms associated with EOCRC could lead to a more timely diagnosis and better clinical outcomes.
  • In a systematic review and meta-analysis of 81 studies with 24.9 million EOCRC cases, researchers sought to determine the most common presenting signs and symptoms, their association with EOCRC risk, and the time from presentation to diagnosis.
  • Data extraction and quality assessment were performed independently in duplicate using PRISMA guidelines, and Joanna Briggs Institute critical appraisal tools were used to measure the risk of bias.

TAKEAWAY:

  • Hematochezia was the most common presenting sign/symptom, with a pooled prevalence of 45%, followed by abdominal pain, with a pooled prevalence of 40%.
  • Altered bowel habits, which included constipation, diarrhea, and alternating bowel habits, were the third most common presenting sign/symptom (pooled prevalence of 27%), followed by unexplained weight loss (pooled prevalence of 17%).
  • The likelihood of EOCRC was estimated to be fivefold to 54-fold higher with hematochezia and 1.3-fold to sixfold higher with abdominal pain.
  • The mean time from sign or symptom onset to EOCRC diagnosis was 6.4 months (range, 1.8-13.7 months).

IN PRACTICE:

“These findings and the increasing risk of CRC in individuals younger than 50 years highlight the urgent need to educate clinicians and patients about these signs and symptoms to ensure that diagnostic workup and resolution are not delayed. Adapting current clinical practice to identify and address these signs and symptoms through careful clinical triage and follow-up could help limit morbidity and mortality associated with EOCRC,” the authors wrote.

SOURCE:

The study, with Joshua Demb, PhD, MPH, division of gastroenterology, department of medicine, University of California, San Diego, was published online May 24 in JAMA Network Open.

LIMITATIONS:

Significant heterogeneity across studies affected the ability to meta-analyze some results. The cross-sectional data limited the ability to stratify by age, sex, race and ethnicity, or genetic ancestry. It was not possible to evaluate the impact of time to diagnosis on CRC outcomes due to a limited number of studies answering this question. Researchers were unable to examine the constellation of signs and symptoms because they lacked individual-level data from each study.

DISCLOSURES:

The authors disclosed no relevant conflicts of interest. No specific funding was disclosed.
 

A version of this article appeared on Medscape.com.

 

TOPLINE:

Patients with early-onset colorectal cancer (EOCRC) often present with hematochezia or abdominal pain, symptoms frequently overlooked in younger populations, leading to delays in diagnosis of 4-6 months, a new analysis showed.

METHODOLOGY:

  • As the number of cases of EOCRC, defined as colorectal cancer (CRC) diagnosed before age 50, continues to rise, early detection has become increasingly important. Improved recognition of presenting signs and symptoms associated with EOCRC could lead to a more timely diagnosis and better clinical outcomes.
  • In a systematic review and meta-analysis of 81 studies with 24.9 million EOCRC cases, researchers sought to determine the most common presenting signs and symptoms, their association with EOCRC risk, and the time from presentation to diagnosis.
  • Data extraction and quality assessment were performed independently in duplicate using PRISMA guidelines, and Joanna Briggs Institute critical appraisal tools were used to measure the risk of bias.

TAKEAWAY:

  • Hematochezia was the most common presenting sign/symptom, with a pooled prevalence of 45%, followed by abdominal pain, with a pooled prevalence of 40%.
  • Altered bowel habits, which included constipation, diarrhea, and alternating bowel habits, were the third most common presenting sign/symptom (pooled prevalence of 27%), followed by unexplained weight loss (pooled prevalence of 17%).
  • The likelihood of EOCRC was estimated to be fivefold to 54-fold higher with hematochezia and 1.3-fold to sixfold higher with abdominal pain.
  • The mean time from sign or symptom onset to EOCRC diagnosis was 6.4 months (range, 1.8-13.7 months).

IN PRACTICE:

“These findings and the increasing risk of CRC in individuals younger than 50 years highlight the urgent need to educate clinicians and patients about these signs and symptoms to ensure that diagnostic workup and resolution are not delayed. Adapting current clinical practice to identify and address these signs and symptoms through careful clinical triage and follow-up could help limit morbidity and mortality associated with EOCRC,” the authors wrote.

SOURCE:

The study, with Joshua Demb, PhD, MPH, division of gastroenterology, department of medicine, University of California, San Diego, was published online May 24 in JAMA Network Open.

LIMITATIONS:

Significant heterogeneity across studies affected the ability to meta-analyze some results. The cross-sectional data limited the ability to stratify by age, sex, race and ethnicity, or genetic ancestry. It was not possible to evaluate the impact of time to diagnosis on CRC outcomes due to a limited number of studies answering this question. Researchers were unable to examine the constellation of signs and symptoms because they lacked individual-level data from each study.

DISCLOSURES:

The authors disclosed no relevant conflicts of interest. No specific funding was disclosed.
 

A version of this article appeared on Medscape.com.

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