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Journal of Community Hospital Internal... 2023Vitamin B12 is a water-soluble vitamin cofactor for many enzymatic reactions in the body. It plays a vital role in the normal maturation of red blood cells and in...
Vitamin B12 is a water-soluble vitamin cofactor for many enzymatic reactions in the body. It plays a vital role in the normal maturation of red blood cells and in producing proteins needed for normal neurological function. The most common presentations of vitamin B12 deficiency are hematological abnormalities and neurological manifestations. Pseudo-thrombotic microangiopathy, a syndrome of hemolysis and thrombocytopenia, may mimic the presentation of thrombotic microangiopathies such as thrombotic thrombocytopenic purpura, an uncommon presentation of vitamin B12 deficiency. We present the case of a 58-year-old male with no significant past medical history who presented with severe macrocytic anemia and thrombocytopenia with laboratory findings suggestive of hemolytic anemia. He was found to have vitamin B12 deficiency with positive serological markers suggesting pernicious anemia is the underlying cause. Our case demonstrates that vitamin B12 deficiency should be considered in cases of suspected thrombotic microangiopathy, especially in the setting of significantly elevated lactate dehydrogenase levels and low reticulocyte count to avoid the initiation of unnecessary and expensive treatment modalities such as plasmapheresis.
PubMed: 38596564
DOI: 10.55729/2000-9666.1263 -
European Journal of Haematology Jul 2024Having a haematological condition can adversely affect the quality of life (QoL) of family members/partners of patients. It is important to measure this often ignored...
Measurement of the major ignored burden of multiple myeloma, pernicious anaemia and of other haematological conditions on partners and family members: A cross-sectional study.
BACKGROUND
Having a haematological condition can adversely affect the quality of life (QoL) of family members/partners of patients. It is important to measure this often ignored burden in order to implement appropriate supportive interventions.
OBJECTIVE
To measure current impact of haematological conditions on the QoL of family members/partners of patients, using the Family Reported Outcome Measure-16 (FROM-16).
METHODS
A cross-sectional study, recruited online through patient support groups, involved UK family members/partners of people with haematological conditions completing the FROM-16.
RESULTS
183 family members/partners (mean age = 60.5 years, SD = 13.2; females = 62.8%) of patients (mean age = 64.1, SD = 12.8; females = 46.4%) with 12 haematological conditions completed the FROM-16. The FROM-16 mean total score was 14.0 (SD = 7.2), meaning 'a moderate effect on QoL'. The mean FROM-16 scores of family members of people with multiple myeloma (mean = 15.8, SD = 6.3, n = 99) and other haematological malignancies (mean = 13.9, SD = 7.8, n = 29) were higher than of people with pernicious anaemia (mean = 10.7, SD = 7.5, n = 47) and other non-malignant conditions (mean = 11, SD = 7.4, n = 56, p < .01). Over one third (36.1%, n = 183) of family members experienced a 'very large effect' (FROM-16 score>16) on their quality of life.
CONCLUSIONS
Haematological conditions, in particular those of malignant type, impact the QoL of family members/partners of patients. Healthcare professionals can now, using FROM-16, identify those most affected and should consider how to provide appropriate holistic support within routine practice.
Topics: Humans; Multiple Myeloma; Male; Cross-Sectional Studies; Female; Quality of Life; Middle Aged; Family; Aged; Anemia, Pernicious; Cost of Illness; Surveys and Questionnaires; Adult; Hematologic Diseases
PubMed: 38577720
DOI: 10.1111/ejh.14206 -
Clinical Nutrition (Edinburgh, Scotland) Apr 2024While vitamin B12 (B12) deficiency is considered as the hallmark of pernicious anemia (PA), iron deficiency (ID) is also prevalent. Indeed, this auto immune gastritis is...
BACKGROUND & AIMS
While vitamin B12 (B12) deficiency is considered as the hallmark of pernicious anemia (PA), iron deficiency (ID) is also prevalent. Indeed, this auto immune gastritis is responsible for parietal cell atrophy and increase in gastric pH, leading to impaired iron absorption. We compared PA patients' features according to their iron status at PA diagnosis, and we assessed the iron status recovery after oral or intravenous iron supplementation.
METHODS
We prospectively included patients presenting with a newly diagnosed PA in a tertiary referral hospital between November 2018 and October 2020. Iron status was assessed at PA diagnosis then regularly during a standardized follow-up. In case of ID, the decision of treatment with oral and/or intravenous iron supplementation was left to the clinician convenience.
RESULTS
We included 28 patients with newly diagnosed PA. ID was observed in 21/28 (75.0%) patients: from the PA diagnosis in 13 patients, or during the follow-up in 8 patients. Iron deficient PA patients had higher plasma B12 (p = 0.04) and lower homocysteine levels (p = 0.04). Also, ID was independently associated with the 'APCA (anti-parietal cell antibodies) alone' immunological status (absence of anti-intrinsic factor antibodies) after adjustment for age, gender and B12 level (aOR 12.1 [1.1-141.8], p = 0.04). High level of APCA was associated with lower ferritin level. After 3 months of supplementation, 3/11 PA patients normalized the iron status with oral iron supplementation, versus 7/8 with intravenous iron supplementation (p = 0.02).
CONCLUSION
The high frequency of iron deficiency in PA highlights the interest of regular assessment of iron status in this condition. ID was associated with a profile including APCA alone and less pronounced B12 deficiency. Intravenous iron supplementation seemed to be more efficient than an oral supplementation in these preliminary data.
Topics: Humans; Anemia, Pernicious; Iron; Vitamin B 12 Deficiency; Preliminary Data; Vitamin B 12; Iron Deficiencies; Autoantibodies; Dietary Supplements
PubMed: 38527394
DOI: 10.1016/j.clnu.2024.03.011 -
International Journal of Hematology May 2024Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common among children with ASD because of their persnickety nature. A prolonged unbalanced diet results in an increased risk of several diseases, such as iron deficiency anemia, scurvy, rickets, dry eye, and Wernicke encephalopathy. However, no cases of megaloblastic anemia have been reported to date. We report the case of an 11-year-old boy with ASD who developed megaloblastic anemia due to vitamin B12 deficiency. He had a prolonged history of selective eating for more than 10 years. His nutritional status on admission was poor, and he had low weight and short stature. His food selectivity was so strong that intervention to expand diet variety was unsuccessful. A developmental-behavioral pediatrician found that the patient had visual dominance and could take some medications when suffering from a minor illness. Nutritional supplements were selected after consultation with a nutritionist. Although compulsory treatment was necessary during the acute phase, the therapy was continued at home. With multidisciplinary intervention tailored to the patient and his parents' characteristics, his nutritional status improved in a few months.
Topics: Humans; Male; Child; Anemia, Megaloblastic; Autism Spectrum Disorder; Vitamin B 12 Deficiency; Diet; Dietary Supplements
PubMed: 38526684
DOI: 10.1007/s12185-024-03759-3 -
Cureus Feb 2024Bradycardia, renal failure, atrioventricular (AV) block, shock, and hyperkalemia (BRASH) syndrome is a rare clinical entity that poses challenges for healthcare...
Bradycardia, Renal Failure, Atrioventricular Block, Shock, and Hyperkalemia (BRASH) Syndrome Emergence in a Unique Intersection of COVID-19 and End-Stage Renal Disease: A Case Report.
Bradycardia, renal failure, atrioventricular (AV) block, shock, and hyperkalemia (BRASH) syndrome is a rare clinical entity that poses challenges for healthcare practitioners. It is characterized by bradycardia, renal failure, atrioventricular (AV) obstruction, shock, and hyperkalemia. This case is an interesting instance of BRASH syndrome in the setting of COVID-19 infection and end-stage renal disease (ESRD). Initial laboratory results revealed macrocytic anemia, renal dysfunction, acidosis, and mild hyponatremia, along with hyperkalemia. An electrocardiogram (EKG) and telemonitoring showed dopamine-resistant persistent bradycardia until transvenous temporary pacemaker placement was done, which resolved the bradycardia. Anti-hyperkalemic therapy, avoiding AV nodal-blocking medication, and temporary pacemaker placement were all part of the management. After receiving hemodialysis, the patient gradually recovered. Bradycardia improved and potassium normalized. The intricate interaction between hyperkalemia and AV nodal obstruction that causes BRASH syndrome results in severe bradycardia and shock. To the best of our knowledge, this is the first case of BRASH syndrome in a patient with an active COVID-19 infection in a previously vaccinated patient. Even though case reports make up the majority of the material currently in publication, to fully comprehend the mechanisms underlying this illness, more research is required, as early detection of this syndrome is crucial for better patient outcomes.
PubMed: 38524089
DOI: 10.7759/cureus.54695 -
American Journal of Clinical Pathology Mar 2024To discuss VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, including the clinical and pathologic features, diagnostic challenges, and...
OBJECTIVES
To discuss VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, including the clinical and pathologic features, diagnostic challenges, and treatment options.
METHODS
A case-based approach and pertinent literature review were used to highlight the features of VEXAS syndrome, describe how to make the diagnosis, and discuss available therapies.
RESULTS
VEXAS syndrome is an adult-onset, progressive systemic inflammatory disorder with overlapping rheumatologic and hematologic manifestations, including an increased risk of myelodysplastic neoplasms and plasma cell neoplasms. The disorder is associated with a somatic mutation of the X-linked UBA1 gene involved in ubiquitylation, typically involving p.Met41; however, rare variations have been identified outside this region. Patients often present with complex histories and see physicians from multiple specialties before receiving the diagnosis, which is often delayed. Symptoms are related to inflammation as well as cytopenias, particularly macrocytic anemia. Characteristic cytoplasmic vacuoles are present in myeloid (granulocytic, monocytic) and erythroid precursors in the vast majority of cases.
CONCLUSIONS
Either clinicians or pathologists may suspect a diagnosis of VEXAS syndrome depending on the clinical presentation and bone marrow findings. More studies are needed to determine the best therapeutic options, which are currently limited.
PubMed: 38511841
DOI: 10.1093/ajcp/aqae017 -
BMC Pulmonary Medicine Mar 2024Erlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC. Erlotinib is... (Review)
Review
BACKGROUND
Erlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC. Erlotinib is considered as a safe and effective treatment option, with generally good tolerance. Diarrhea and rash are the most common side effects, and more rare side effects appear in long-term real-world applications. Severe erlotinib related megaloblastic anemia is rare and remains unreported. This is the first case report of severe megaloblastic anemia in a patient with advanced lung adenocarcinoma with an EGFR L858R mutation treated with erlotinib. In this report, the clinical manifestations, diagnosis and treatment of erlotinib related severe megaloblastic anemia are described, and the possible pathogenesis and related treatment options are discussed.
CASE DESCRIPTION
Herein, we present a 57- year-old non-smoking female diagnosed with metastatic lung adenocarcinoma harboring an EGFR L858R mutation, who had received erlotinib as the first-line therapy. After 44 weeks of treatment, the patient developed severe anemia. Anemia was manifested as megaloblastic anemia with elevated mean corpuscular volume and mean corpuscular hemoglobin. The total vitamin B12 level was below the detection limit of 50.00 pg /mL. Bone marrow smear suggested megaloblastic anemia. Her hematologic parameters were markedly recovered following the withdrawal of erlotinib and vitamin B12 supplement. As a result, the patient was diagnosed with erlotinib-associated megaloblastic anemia.
CONCLUSIONS
This is the first case of severe megaloblastic anemia reported with erlotinib. Few of these hematologic adverse effects have been observed in studies on erlotinib, this case report highlights this possibility for long-term erlotinib administration. Close clinical and blood monitoring is recommended for patients receiving long-term TKI therapy.
Topics: Humans; Female; Middle Aged; Erlotinib Hydrochloride; Anemia; Anemia, Megaloblastic; Adenocarcinoma of Lung; ErbB Receptors; Lung Neoplasms; Vitamin B 12
PubMed: 38448889
DOI: 10.1186/s12890-024-02935-9 -
Journal of Pediatric Endocrinology &... Apr 2024Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency...
OBJECTIVES
Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents in early infancy with a failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical, biochemical, and molecular findings, as well as long-term outcomes, were collected.
CASE PRESENTATION
Mutation analysis revealed one unreported pathogenic variant in the gene. One patient had exocrine pancreatic insufficiency. We conducted a retrospective analysis of C3 and C3/C2 from dried blood samples, as this is implemented for newborn screening (NBS). We detected a marked increase in the C3/C2 ratio in two samples. Treatment was based on parenteral Cbl. Three patients treated before six months of age had an initial favorable outcome, whereas the two treated later or inadequately had neurological impairment.
CONCLUSIONS
This is the first report of Argentinean patients with TC deficiency that detected a new variant in NBS may be a tool for the early detection of TC deficiency. This data emphasizes that TC deficiency is a severe disorder that requires early detection and long-term, aggressive therapy. Accurate diagnosis is imperative, because early detection and treatment can be life-saving.
Topics: Infant, Newborn; Humans; Vitamin B 12; Transcobalamins; Retrospective Studies; Vitamin B 12 Deficiency; Anemia, Macrocytic; Amino Acid Metabolism, Inborn Errors; Early Diagnosis
PubMed: 38436354
DOI: 10.1515/jpem-2023-0577 -
Tropical Doctor Jul 2024Vitamin B12 and folate deficiency are reversible causes of megaloblastic anemia Strict vegetarians are at risk of megaloblastic anemia due to low cobalamin in their diet...
Vitamin B12 and folate deficiency are reversible causes of megaloblastic anemia Strict vegetarians are at risk of megaloblastic anemia due to low cobalamin in their diet Knuckle hyperpigmentation in patients with megaloblastic anemia is due to excess melanin synthesis in skin. Here we present a case of a young vegetarian male with megaloblastic anemia with knuckle hyperpigmentation managed successfully with intravenous followed by oral vitamin b12 and folate supplementation.
Topics: Humans; Male; Vitamin B 12 Deficiency; Hyperpigmentation; Vitamin B 12; Anemia, Megaloblastic; Folic Acid; Adult; Dietary Supplements; Diet, Vegetarian; Treatment Outcome
PubMed: 38419508
DOI: 10.1177/00494755241234081