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Cureus Jan 2024Cobalamin, also known as vitamin B12, is a water-soluble vitamin. Cobalamin deficiency can be frequently seen in people all around the world. It can have non-specific... (Review)
Review
Cobalamin, also known as vitamin B12, is a water-soluble vitamin. Cobalamin deficiency can be frequently seen in people all around the world. It can have non-specific symptoms, and in patients who are in a very critical state, it can lead to neurological or hematological abnormalities. While pernicious anemia used to be the main cause, it now accounts for a smaller number of cases, with food-bound cobalamin malabsorption being more common. Early diagnosis and appropriate management are crucial to avoid severe complications like spinal cord degeneration and pancytopenia. The primary method of treatment has been injections of vitamin B12 which are given through the intramuscular route but now the oral replacement therapy has also been very effective in treating the patients. There is increasing evidence linking increased levels of vitamin B12 to hematological and hepatic disorders, particularly cancers. This review has primarily highlighted the metabolism, clinical manifestations, diagnosis, and treatment of cobalamin deficiency in the past decade.
PubMed: 38344487
DOI: 10.7759/cureus.52153 -
Frontiers in Immunology 2024VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic...
VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center. The use of NGS, together with morphological assays, integrated with the WHO 2022 criteria, allowed to identify three subsets of VEXAS associated cytopenias: ICUS (idiopathic cytopenia of uncertain significance), CCUS (clonal cytopenia of uncertain significance) at high risk of clonal evolution, and MDS. This approach could help to better understand the nature of VEXAS associated cytopenias and to guide the use of specific targeted treatments in order to achieve long lasting responses.
Topics: Humans; Cytopenia; Myelodysplastic Syndromes; Clonal Evolution; World Health Organization; Skin Diseases, Genetic
PubMed: 38333211
DOI: 10.3389/fimmu.2024.1354130 -
Women's Health (London, England) 2024Anemia is a significant public health concern, primarily affecting young children, pregnant and postpartum women, and menstruating adolescent girls and women. This study...
Prevalence and factors influencing anemia in women of reproductive age visiting a tertiary care hospital (Jinnah Postgraduate Medical Center) in Karachi: A cross-sectional study.
INTRODUCTION
Anemia is a significant public health concern, primarily affecting young children, pregnant and postpartum women, and menstruating adolescent girls and women. This study aimed to evaluate the prevalence of anemia and associated factors in women of reproductive age visiting a tertiary care hospital in Karachi, Pakistan.
OBJECTIVE
The primary objective was to determine the prevalence of anemia in women of reproductive age, while the secondary objective was to investigate potential causes of anemia within this demographic group.
DESIGN
A prospective cross-sectional approach was employed, adhering to Strengthening the Reporting of Observational Studies in Epidemiology guidelines. A questionnaire-based method was used to assess anemia, and data were collected from women aged 14 to 40 years.
METHOD
The study was conducted at the Jinnah Postgraduate Medical Center from January to May 2023. The study was approved by the Institutional Review Board of Jinnah Sindh Medical University (Institutional Review Board reference number JSMU/IRB/2023/699). A sample of 397 women was included, and various demographic and lifestyle factors were assessed.
RESULTS
In this study of 397 participants, 71.5% were found to have anemia, primarily microcytic anemia (48.2%). Anemia prevalence was highest among the 14-18 years age group (80.7%) and those from lower socioeconomic backgrounds (73.6%). Factors such as frequent tea consumption, irregular mealtimes, and pica consumption were associated with higher anemia rates. Pregnant women and those with more children were at a heightened risk of anemia.
CONCLUSION
The study reveals a notable prevalence of anemia among women of reproductive age with a surprising emphasis on younger individuals and lower socioeconomic groups. Dietary habits, lifestyle choices, and pregnancy status play significant roles in anemia development. Targeted interventions are essential, particularly for younger women, those from disadvantaged backgrounds, and pregnant individuals, to combat anemia effectively in this region.
Topics: Adolescent; Female; Humans; Pregnancy; Anemia; Cross-Sectional Studies; Prevalence; Prospective Studies; Risk Factors; Tertiary Care Centers; Young Adult; Adult
PubMed: 38282529
DOI: 10.1177/17455057241227364 -
Cureus Dec 2023Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary...
Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary consumption, pernicious anemia should be considered as it is a common cause. Pernicious anemia is an autoimmune atrophic gastritis impairing the absorption of vitamin B12. Manifestations include neurological changes, macrocytic anemia, glossitis, and nail changes. Hemolytic anemia is an unusual complication of vitamin B12 deficiency and an even more unusual initial presentation. This case identifies a patient with previously undiagnosed pernicious anemia with severe vitamin B12 deficiency compounded by hemolytic anemia as the presenting symptom. Overall, this case highlights the importance of considering vitamin B12 deficiency-related hemolytic anemia and the need for further research into the causes and pathophysiology of vitamin B12-induced hemolysis due to its potential for fatal outcomes despite being easily treatable with cost-effective methods to treat.
PubMed: 38226075
DOI: 10.7759/cureus.50534 -
MedRxiv : the Preprint Server For... Dec 2023Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for...
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with biallelic loss of function in , a key CIA component, develop proximal and axial muscle weakness, fluctuating creatine kinase elevation and respiratory insufficiency. In addition, they present with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, macrocytic anemia and gastrointestinal symptoms. Mutational analysis and functional assays revealed reduced stability of the variants compared to wild-type CIAO1. Loss of CIAO1 impaired DNA helicases, polymerases and repair enzymes which rely on the CIA complex to acquire their Fe-S cofactors, with lentiviral restoration reversing all patient-derived cellular abnormalities. Our study identifies as a novel human disease gene and provides insights into the broader implications of the iron-sulfur assembly pathway in human health and disease.
PubMed: 38196629
DOI: 10.1101/2023.12.20.23300170 -
Medicine Dec 2023Anorexia nervosa is characterized by an extreme fear of weight gain. Clinicians often prescribe meal replacement shakes if patients are unable or unwilling to consume...
RATIONALE
Anorexia nervosa is characterized by an extreme fear of weight gain. Clinicians often prescribe meal replacement shakes if patients are unable or unwilling to consume typical foods. However, these shakes sometimes lack essential micronutrients, such as selenium, which may lead to health risks. Moreover, selenium deficiency induces macrocytic anemia. Herein, we present a case of a patient with anorexia nervosa with macrocytic anemia due to selenium deficiency, which was alleviated by selenium supplementation.
PATIENT CONCERNS
An 18-year-old female was admitted to our hospital. The patient was diagnosed with anorexia nervosa. Ultimately, she was unable to walk independently because of fatigue and electrolyte disturbances.
CLINICAL FINDINGS
On admission, the height, weight, and body mass index of the patient were 158.5 cm, 27.1 kg, and 10.8, respectively. Our treatment for anorexia nervosa showed relative effectiveness, and the patient's body weight recovered to 29.2 kg by day 60. However, the mean corpuscular volume increased from day 20, suggesting macrocytic anemia.
DIAGNOSES, INTERVENTIONS, AND OUTCOMES
Despite our vitamin B12 and folic acid supplementation interventions, the mean corpuscular volume continued to rise. On day 60, the patient was diagnosed with selenium deficiency, and selenium administration of 100 μg/day was initiated.
OUTCOMES
The macrocytic anemia in the patient was alleviated, and treatment for anorexia nervosa was continued in our hospital.
LESSONS
To the best of our knowledge, this is the first case of macrocytic anemia induced by selenium deficiency with anorexia nervosa comorbidity, underscoring the importance of selenium supplementation in patients with anorexia nervosa, especially in those with macrocytic anemia.
Topics: Female; Humans; Adolescent; Anorexia Nervosa; Selenium; Malnutrition; Body Mass Index; Anemia, Macrocytic
PubMed: 38134070
DOI: 10.1097/MD.0000000000036740 -
Biochemia Medica Feb 2024The recreational use of nitrous oxide as laughing gas becomes a real public health issue among adolescents and young adults. Chronic use is deleterious and can lead to...
The recreational use of nitrous oxide as laughing gas becomes a real public health issue among adolescents and young adults. Chronic use is deleterious and can lead to severe neurological disorders. Nitrous oxide inactivates vitamin B12, and the functional defect of vitamin B12 plays a major role in the pathogenesis of nitrous oxide-related neurological disorders. Here we report the case of a 22-year-old woman who came to the hospital after an unexplained loss of consciousness. She exhibited typical features of vitamin B12 or folate deficiency such as macrocytic anemia and hypersegmented neutrophils. However, serum concentrations of folate and vitamin B12 were normal. In contrast, circulating concentrations of total homocysteine and methylmalonic acid were significantly increased. These results clearly indicated a defect in vitamin B12 functions. The reason for this defect was clarified when she revealed that she had been consuming nitrous oxide recreationally for over a year. The present case points out the challenges in diagnosing vitamin B12 deficiency in the context of nitrous oxide abuse due to normal concentrations of total serum vitamin B12 in a significant proportion of cases. The medical community should be aware of how difficult it can be to interpret B12 status in this specific population.
Topics: Adolescent; Female; Young Adult; Humans; Adult; Nitrous Oxide; Vitamin B 12 Deficiency; Vitamin B 12; Folic Acid; Nervous System Diseases
PubMed: 38125615
DOI: 10.11613/BM.2024.010801 -
Cureus Nov 2023We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup...
We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup showed pancytopenia with severe macrocytic anemia, laboratory and blood smear features of hemolysis, low reticulocyte percentage and a negative direct Coombs test. B12 and folate levels were normal. As bone marrow aspirate was suggestive of megaloblastic anemia and upper endoscopy showed atrophic gastritis, we ordered homocysteine (elevated) and intrinsic factor (IF) antibodies (positive). The workup led to the diagnosis of pernicious anemia with spuriously normal B12 levels. Replacement therapy allowed a rapid recovery. We highlight that the presence of IF antibodies can interfere with the competitive binding assays commonly used to measure B12 levels.
PubMed: 38106734
DOI: 10.7759/cureus.48937 -
Italian Journal of Pediatrics Nov 2023Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune...
BACKGROUND
Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations.
CASES PRESENTATION
Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed.
CONCLUSIONS
Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.
Topics: Humans; Child; Adult; Diabetes Mellitus; Hearing Loss, Sensorineural; Thiamine; Anemia, Megaloblastic; Early Diagnosis; Deafness
PubMed: 38037112
DOI: 10.1186/s13052-023-01553-1 -
Cureus Oct 2023Diabetes mellitus (DM) is the most common metabolic disease worldwide. Hence, the prevalence of the disease continues to increase across the globe. Metformin is used as... (Review)
Review
Diabetes mellitus (DM) is the most common metabolic disease worldwide. Hence, the prevalence of the disease continues to increase across the globe. Metformin is used as a first-line oral hypoglycemic drug to keep control of type-2 DM (T2DM) in adults. Diabetic patients on metformin have been largely seen to be suffering from a deficiency of vitamin B12. It is a water-soluble vitamin mainly obtained from animal food like meat. At the basic cell level, it acts as a cofactor for enzymes essential for DNA synthesis and neuroprotection. As a result, vitamin B12 deficiency can show clinical effects such as progressive demyelination, peripheral neuropathy and haematological abnormalities (such as macrocytic anaemia and neutrophil hypersegmentation). Various studies also show a relation between vitamin B12 insufficiency and metformin-treated T2DM patients as decreased absorption of vitamin B12. There could be a severe complication of vitamin B12 deficiency in T2DM patients. The use of proton pump inhibitors, gastric bypass surgery, older patients and patients with a higher red blood cell turnover are factors that hasten the depletion of vitamin B12 reserves in the liver. Methylmalonic acid and homocysteine levels can be measured to identify vitamin B12 insufficiency at its early stage if blood vitamin B12 levels are borderline. The action of metformin on vitamin B12 absorption and its potential mechanisms of inhibition will be the main topics of discussion in this review. The review will also discuss how vitamin B12 deficiencies in T2DM patients using metformin affect their clinical results.
PubMed: 38034222
DOI: 10.7759/cureus.47771