Cases Of Vitamin B12 Deficiency Research Articles

Causes and Risk Factors of Vitamin B12 Deficiency at the Bookends of Life, From Infancy to Old Age.

The causes and risk factors of vitamin B12 deficiency are many and varied. Importantly, they vary considerably across the lifespan, from infancy to old age. The complexity of the physiology of vitamin B12 bespeaks the myriad of possible causes of deficiency and possible disruptions of its functional integrity. These lead ultimately to the pathobiological effects witnessed in deficiency of this fascinating micronutrient. This brief overview of the multiplicity of mechanisms that can result in vitamin B12 deficiency, and the panoply of its manifestations explores the underlying reasons for the protean presentations of the disease. As the human organism progresses through the chronology and milestones of age, various susceptibility factors arise resulting from the interplay of environmental and genetic factors. Acting independently and in concert, these factors produce the common denominator of vitamin B12 deficiency. However, the rate at which such deficiency develops and the way in which it presents clinically vary widely, subject to such influences as genetic variability, end-organ susceptibility, and concomitant micronutrient status. Some examples of unusual cases of vitamin B12 deficiency are described. Much has been learned about the last of the numbered vitamins in almost a century. Much yet remains to be discovered.

Association of Maternal Vitamin B12 and Folate Levels with Gestational Diabetes Mellitus and Insulin Resistance

Background: The incidence of gestational diabetes mellitus (GDM) has increased in recent decades. Established prevention methods for GDM include diet and exercise. Recent interest has focused on the roles of vitamin B12 and folate in the development of GDM. These micronutrients are essential for one-carbon metabolism, which is involved in many metabolic pathways. However, the study results were conflicting and varied by geographic area. Objectives: The aim of this study was to evaluate the relationship between GDM and vitamin B12 levels in our region. Methods: This case-control study enrolled 180 pregnant women at 24 - 28 weeks of gestation. Half of the participants had GDM, and the other half were healthy individuals. All participants attended outpatient pregnancy care clinics at Shiraz University of Medical Sciences from June 2020 to April 2021. Gestational age, age, and body mass index were matched between the two groups. Vitamin B12, folate, insulin, and homocysteine levels were measured in both groups and insulin resistance was calculated. The results were compared between the two groups, and the relationship between vitamin B12 levels and insulin resistance in each group was investigated. Results: Vitamin B12 deficiency was present in 15.6% of the women with GDM. There were no cases of vitamin B12 deficiency in the control group. The GDM group had lower vitamin B12 levels (365.22 ± 136.82 pg/mL vs. 496.08 ± 156.46 pg/mL, P = 0.001). There was a negative correlation between serum vitamin B12 level and insulin resistance index (P = 0.001, r = -0.62). Folate levels were higher in the GDM group (17.93 ± 3.66 ng/mL vs. 14.60 ± 5.32 ng/mL, P = 0.001), but these levels did not significantly relate to insulin resistance or GDM. Conclusions: In our region, there is a significant relationship between low levels of vitamin B12 and both insulin resistance and GDM, which suggests the need for larger studies and attention to the detection and treatment of vitamin B12 deficiency during pregnancy.

A Case of Vitamin B12 Deficiency and Hyperhomocysteinemia-induced Sub-massive Pulmonary Thromboembolism

A Case of Vitamin B12 Deficiency and Hyperhomocysteinemia-induced Sub-massive Pulmonary Thromboembolism

Vitamin B12 deficiency in sickle cell patients at the Bamako sickle cell research and control center: About two cases

Vitamin B12 deficiency, also known as hypocobalamemia refers to low blood levels of vitamin B12. The authors report two cases of vitamin B12 deficiency in two sickle cell patients followed at the Bamako sickle cell research center. The objective of this work is to describe this pathology in sickle cell patients and to provide a treatment plan. Keywords: sickle cell anemia, vitamin B12 deficiency, center for reseach and fight against sickle cell disease

Two cases of vitamin B12 deficiency in patients with beta-thalassemia trait: lessons in diagnosis

BackgroundCoexisting pathologies is not a new phenomenon and can cause diagnostic difficulties when they overshadow one another. They may alter the cytomorphology of cells and the machine readings to an extent that the actual diagnosis is missed. One such scenario is created by coexisting megaloblastic anemia and beta-thalassemia trait where the RBC indices and the hemoglobin chromatogram findings conform to neither of the two. Case presentationWe present two cases of anemia presenting with normocytic normochromic indices, increased red cell distribution width (RDW), elevated HbA2 levels and moderately high HbF levels in both of them and an additional low HbA1c in case 2. Upon evaluation of peripheral smear and biochemical tests, a non-immune hemolytic component was also identified with deficient Vit B12 levels in case 1 and highly elevated levels post-supplementation in case 2. ConclusionsTaking together the peripheral smear, erythrogram, chromatogram and biochemical findings, it was deduced that the alterations were caused by coexisting beta-thalassemia trait and megaloblastic anemia. Vit B12 deficiency was the cause behind hemolysis owing to intramedullary destruction of abnormal precursors. Upon supplementation in case 2, the immediate reticulocyte response was the reason behind spuriously low HbA1c.

Vitamin B12 Deficiency and Hemolytic Anemia Presenting As Pseudo Thrombotic Microangiopathy: A Systematic Review

Introduction: Vitamin B12 deficiency is a common nutritional issue associated with mild anemia and neurological deficits. While rare, hemolytic anemia and low platelet count can be complications of this deficiency, often misdiagnosed as thrombotic microangiopathy (TMA), specifically thrombotic thrombocytopenic purpura (TTP). Pseudo TMA features can occur with B12 deficiency and can be effectively treated with vitamin B12 supplementation. In contrast, true TMA requires plasmapheresis. This systematic review aims to differentiate between pseudo TMA and TMA cases through an analysis of published case reports, providing valuable insights to avoid unnecessary treatments. Methods: We performed systematic review from Pubmed, Web of Science, and Scopus database. Twin independent reviewers (SY and BL) performed the screening using Covidence. Search keywords included “((hemolytic anemia) AND (vitamin B12 deficiency)) OR ((cobalamin deficiency) AND (hemolytic anemia)) Filters: English” for Pubmed, “(((ALL=(Cobalamin deficiency)) OR ALL=(vitamin B12 Deficiency))) AND ALL=(hemolytic anemia) Filter: English” for Web of Science and “( vitamin AND b12 AND deficiency OR cobalamin AND deficiency ) AND hemolytic AND anemia AND ( LIMIT-TO ( LANGUAGE , ”English“ ))” from Scopus. Only case reports in English with full-text availability and adult subjects were selected. Cases without final clinical outcome after treatment were excluded. After a comprehensive review, we identified 43 case reports and series with a total 53 patients that fulfilled our criteria. The details of selection process is illustrated in the prisma diagram (Figure 1). Results: The majority of cases involved males with low hemoglobin and platelet counts upon admission. Evidence of hemolysis was observed, indicated by increased lactate dehydrogenase (LDH), undetectable haptoglobin, and elevated or normal total and direct bilirubin levels. Peripheral blood films confirmed the presence of hemolytic anemia. Due to the co-occurrence of thrombocytopenia and hemolytic anemia, some cases were initially diagnosed as TTP, leading to the initiation of plasmapheresis. In 16 out of 53 reported case reports/series, patient received plasmapheresis. However, low reticulocyte index and normal ADAMTS 13 suggested an alternative diagnosis. Once ADAMTS 13 levels were normal, plasmapheresis was discontinued as TTP was ruled out. Diagnosis of B12 deficiency was confirmed by low B12 levels and elevated methylmalonic acid (MMA) levels. Leading cause for B12 deficiency were pernicious anemia in 28/53 cases, followed by dietary deficiency, and malabsorption due to surgery. Some patients also exhibiting concurrent iron deficiency anemia and folate deficiency. Treatment with subcutaneous B12 injections showed improvement in hemolysis as early as one week. Conclusion: Many cases of Vitamin B12 deficiency presenting with hemolytic anemia and thrombocytopenia are mistakenly diagnosed as TTP, leading to unnecessary and expensive plasmapheresis. Routine B12 level checks should be performed in all patients with hemolytic anemia, as B12 deficiency can be rapidly diagnosed and effectively treated, avoiding misdiagnoses and unnecessary interventions associated with TTP. The short turnover time for B12 levels (hours) compared to ADAMTS 13 activity (1-2 days) further supports the importance of routine B12 assessment in these patients.

A Rare Case of Vitamin B12 Deficiency as a Cause of Acquired Hemolytic Anemia

A Rare Case of Vitamin B12 Deficiency as a Cause of Acquired Hemolytic Anemia

Vitamin B12 deficiency in northern India tertiary care: Prevalence, risk factors and clinical characteristics.

ABSTRACTBackground:Vitamin B12 deficiency leads to a diversity of symptoms and affects many systems. It is often overlooked or sometimes even misdiagnosed in clinical practice.Aims and Objectives:The purposes of this study were to report the prevalence of vitamin B12 deficiency, the spectrum of clinical features and to draw attention to the possibility of rare hidden characteristics.Materials and Methods:This study was a multicenter, retrospective, and prospective conducted at a tertiary care teaching hospital and multispecialty hospital. All cases of vitamin B12 deficiency of either sex or age attending the Medicine Department were enrolled in this study from Aug 2015 to Dec 2020. Parenteral vitamin B12 was given, and cases were evaluated for the response on follow-up for more than three months.Results:Of 220 cases, 52.27% were males. Maximum cases were reported from the age group 50 to 65 years (27.27%) and belonged to urban areas (59.1%). The majority were strict vegetarian (86.36%). Among comorbidities, diabetes (20.91%) followed by malabsorption (10.45%) were most common. The cutaneous manifestations were revealed at 38.18%. The most frequent neurological manifestation was paraesthesia (98.18%). Head heaviness/ache was the most frequent (95%) psychiatric manifestation. Anemia was revealed in 87.73% of cases with 88.64% macrocytosis. Axonal sensorimotor (52.63%) neuropathy was a prevalent finding of NCV study.Conclusions:A high index of clinical suspicion is needed in cases with vague manifestations, especially in the pure vegetarian population. Early recognition can prevent further damage as most of its related disorders are generally reversible with treatment.

Vitamin B12 Deficiency in Children Due to Lack of Intake: A Report of Two Cases at the Pediatric Department at Aristide Le Dantec Hospital

We report 2 cases of vitamin B12 deficiency in children due to deficient intake. These were 2 girls aged 4 years (case 1) and 6 years (case 2), respectively, hospitalized in December 2020 and March 2021 in the pediatric ward of Le Dantec hospital. Both patients presented with aregenative anemia, melanoderma and undernutrition. The bone marrow count in case 1 showed a dysmyelopoiesis with megablastosis. The blood vitamin B12 level was low in both cases. Folic acid blood levels were normal in both patients, but an associated martial deficiency was found in case 2. The dietary survey revealed a lack of intake of animal products rich in vitamin B12. Vitamin B12 replacement therapy was effective with rapid regression of all clinical signs observed in both children. The control of the vitamin B12 level after 1 month of treatment was normal in both patients. The disappearance of the symptoms under substitute treatment confirmed the deficiency of Vitamin B12 intake in both patients. Conclusion: Both of our patients had a profound Vitamin B12 deficiency in a context of deficiency in nutrition. The regression of the symptoms was spectacular under vitamin B12 replacement therapy, confirming the deficiency. We recommend in our context a contribution in micronutrients such as vitamins in children after weaning to avoid dietary errors.

Recurrent Syncopal Episode and Undetectable Vitamin B12

Syncope is a common cause of hospital admissions, with a high prevalence found in people 10-30 years of age, and in those 70 years and older. The condition often requires an extensive yet unrevealing workup. Vitamin B12 deficiency, however, is rarely thought to be the primary root of recurrent syncope. We had a case of vitamin B12 deficiency without findings of anemia, which presented as a recurrent syncope in an otherwise relatively young healthy man.

A case of vitamin B12 deficiency with some unusual features

Background: Vitamin B12 (VB12) deficiency is a pleomorphic disease with a wide range of manifestations. Its major cause is pernicious anemia, an autoantibody-mediated disease that results in low levels of intrinsic factor [1,2]. Case Presentation: We present a case report of a middle-aged man with severe megaloblastic anemia due to VB12 deficiency in relation to an unsuspected Crohn’s disease with exclusive ileum involvement. He also had some unusual neurological manifestations of this vitamin’s deficiency, such as hypersudoresis. Unlike most cases, the anemia was not hypoproliferative and hemolysis existed. Conclusion: This case reports some unusual aspects of VB12 deficiency and reminds us that ileum disease should be considered in patients with a negative autoimmune profile.

Vitamin B12 deficiency without anemia in the middle- and old-aged population in Sulaymaniyah City

Background: In our laboratory, we received many cases of Vitamin B12 deficiency without anemia, and we observed that the deficiency is more prominent in females than males. It is well known that Vitamin B12 deficiency is usually associated with macrocytic anemia. However, the clinical importance of Vitamin B12 insufficiency without any hematological abnormality is underestimated in the Sulaymaniyah city population. Thus, the aim of this study is to assess the frequency of Vitamin B12 deficiency with normal complete blood counts (CBCs), especially in the middle- and old-aged population. Materials and Methods: Within the period from April 2018 to April 2019, the patients came to the Dr. Hisham Alrawi Private Laboratory for Vitamin B12 level estimation; the CBCs for all patients with Vitamin B12 deficiency have been collected. We selected patients with low-level Vitamin B12, which were 149 patients, aged 30 years and above. Normal serum Vitamin B12 value in our laboratory is 191–633 pg/ml according to the e411 Roche competitive-binding luminescence immunoassay system. CBC has been collected were done for all patients with Vitamin B12 deficiency by Orphee Mythic 18 Hematology Analyzer. Results: The mean of their age is 64 years, and the mean of hemoglobin (Hb) level is 12.1 g/dL, whereas the mean of Vitamin B12 level is 131.3 pg/ml. About 74 (49.6%) of them have anemia, and 75 (51.4%) are with the normal CBC parameters. The mean of the Hb in females is with the normal range (12.1 g/dL), whereas the mean of the Hb in the males is lower than the normal range (12 g/dL). Conclusions: Vitamin B12 deficiency is common in middle and old age in Sulaymaniyah city, especially in females. Thus, screening programs for B12 levels estimation for this age group are recommended to avoid expected complications.

Newborn Screening for Vitamin B12 Deficiency in Germany—Strategies, Results, and Public Health Implications

To evaluate a systematic newborn screening (NBS) strategy for vitamin B12 deficiency. In a prospective single-center NBS study, a systematic screening strategy for vitamin B12 deficiency was developed and evaluated. Tandem-mass spectrometry screening was complemented by 2 second-tier strategies, measuring methylmalonic/3-OH-propionic/methylcitric acid, and homocysteine from dried blood spots. In a cohort of 176 702 children screened over 27months, 33 children were detected by NBS in whom (maternal) vitamin B12 deficiency was confirmed. Homocysteine was the most sensitive marker for vitamin B12 deficiency, but only combination with a second-tier strategy evaluating methylmalonic acid allowed for detection of all 33 children. Mothers were of various ethnic origins, and 89% adhered to a balanced diet. Treatment in children was performed predominantly by oral vitamin B12 supplementation (84%), and all children remained without clinical symptoms at short-term follow-up. Vitamin B12 deficiency is a treatable condition but can cause severe neurologic sequelae in infants if untreated. The proposed screening strategy is feasible and effective to identify moderate and severe cases of vitamin B12 deficiency. With an incidence of 1:5355 newborns, vitamin B12 deficiency is more frequent than inborn errors of metabolism included in NBS panels. Treatment of vitamin B12 deficiency is easy, and additional benefits can be achieved for previously undiagnosed affected mothers. This supports inclusion of vitamin B12 deficiency into NBS but also stresses the need for increased awareness of vitamin B12 deficiency in caregivers of pregnant women.

MEGALOBLASTIC PANCYTOPENIA MIMICKING HELLP SYNDROME IN LATE PREGNANCY: A CASE REPORT

Introduction: Hemolysis, Elevated liver enzyme, low platelet (HELLP) syndrome is often noted as a complication of preeclampsia but can occur without this association as well. Severe form often requires termination of pregnancy. Vitamin B12 deficiency is common in vegetarian population and can mimic HELLP syndrome.
 Case Summary: We present an interesting case which was initially thought to be HELLP syndrome based on the clinical presentation and patient was planned for induction of labour, but later on it was found out to be a case of Vitamin B12 deficiency on the basis of Lab findings. Patient responded well to the B12 supplementation and unjustified termination of pregnancy was avoided.
 Conclusion: This case illustrates an interesting clinical misdiagnosis of HELLP syndrome in an overt megaloblastic anemia. An elaborated workup with clinical suspicion should be made for megaloblastic anemia in such condition.
 Keywords: HELLP syndrome, Megaloblastic Anemia, Vitamin B12 deficiency, Pregnancy

The Many Faces of Cobalamin (Vitamin B12) Deficiency.

Although cobalamin (vitamin B12) deficiency was described over a century ago, it is still difficult to establish the correct diagnosis and prescribe the right treatment. Symptoms related to vitamin B12 deficiency may be diverse and vary from neurologic to psychiatric. A number of individuals with vitamin B12 deficiency may present with the classic megaloblastic anemia.In clinical practice, many cases of vitamin B12 deficiency are overlooked or sometimes even misdiagnosed. In this review, we describe the heterogeneous disease spectrum of patients with vitamin B12 deficiency in whom the diagnosis was either based on low serum B12 levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B12 therapy. We discuss the possible clinical signs and symptoms of patients with B12 deficiency and the various pitfalls of diagnosis and treatment.

Vitamin B12 deficiency-induced pseudothrombotic microangiopathy without macrocytosis presenting with acute renal failure: a case report

BackgroundVitamin B12 deficiency-induced thrombotic microangiopathy, known as pseudothrombotic microangiopathy, is a rare condition which resembles the clinical features of thrombotic thrombocytopenic purpura but requires a markedly different treatment. Most cases of vitamin B12 deficiency have only mild hematological findings, but in approximately 10% of patients life-threatening conditions have been reported.Case presentationWe report a case of a 46-year-old Moroccan man presenting with severe hemolytic anemia, thrombocytopenia, and renal failure in absence of macrocytosis, thus mimicking a genuine thrombotic thrombocytopenic purpura. Rapid improvement of renal function observed with only hydration and transfusions of packed red blood cells and the presence of pancytopenia suggested a bone marrow deficiency associated to a hemolytic component of unclear origin. Detection of low levels of vitamin B12 and rapid restitutio ad integrum with its replacement supported the diagnosis of pseudothrombotic thrombocytopenic purpura caused by vitamin B12 deficiency.ConclusionsDiagnosis of pseudothrombotic thrombocytopenic purpura caused by vitamin B12 deficiency might be difficult. Awareness of clinicians toward this differential diagnosis might spare patients from unnecessary therapeutic plasma exchange that is burdened by morbidity and mortality.

Case Series on Vitamin B12 Deficiency...Though Rare but a Treatable Disease

Megaloblastic anemia due to vitamin B12 deficiency is an uncommon problem in childhood that is most frequently associated with decreased ingestion or impaired absorption or utilization of B12 [1,2]. Nutritional B12 deficiency in childhood is rare. Most cases are due to maternal insufficiency, resulting from deficient stores and intake generally among exclusively breastfed infants [3]. B12 deficiency in children often presents with nonspecific manifestations [4,5]. We present two cases of vitamin B12 deficiency in breast fed infants presenting as pancytopenia and gross developmental delay respectively

Vitamin B12 deficiency presenting as hemolytic anemia

Vitamin B12 deficiency is not an uncommon condition. Commonly patient presents with megaloblastic anemia and pancytopenia. There are reports in the literature of Vitamin B12 deficiency associated with other immunological conditions. We report such a case of Vitamin B12 deficiency associated with hemolytic anemia in a 36-year-old Indian man, who presented with pancytopenia and hemolytic anemia. Workup for other causes of hemolytic anemia was negative, and the patient responded to treatment with Vitamin B12, with resolution of pancytopenia and hemolysis. Clinicians need to be aware of this association as both conditions occur rarely together and unawareness may lead to unnecessary investigation and procedures.

Vitamin B12 deficiency in infants secondary to maternal deficiency: A case series of seven infants

Objective: Vitamin B12 (cobalamin) deficiency can be acquired in infants secondary to exclusive breast feeding from mothers who have undiagnosed vitamin B12 deficiency. We present a case series of seven such patients, describing their clinical presentations, biochemical markers and outcome at follow up. Methods: A retrospective case note review of seven breast-fed infants presenting with signs and symptoms of vitamin B12 deficiency secondary to undiagnosed maternal vitamin B12 deficiency, in a tertiary paediatric neurology centre. Patients were identified by physician recall. Results: Seven cases of vitamin B12 deficiency caused by dietary deficiency were identified. All infants were breast fed. Presenting symptoms included faltering growth, gastro-oesophageal reflux/feeding difficulty, irritability, apnoea, developmental delay or regression and seizures. Range of age of onset of symptoms peaked between 1 and 6 months and the range of age of diagnosis was 3 to 10 months. All infants had methylmalonic aciduria (MMA). Three of their mothers had MMA, one had borderline MMA, and in three mothers MMA is not known. Following treatment with intramuscular vitamin B12, and up to most recent follow-up, three infants continued to have developmental delay, one regained normal development after a prolonged period of delay, one had normal development, one is awaiting first follow-up after treatment, and the other is unknown. Two mothers went on to be diagnosed with pernicious anaemia. Conclusion: Vitamin B12 deficiency has a significant effect on developing infants and not all symptoms are reversible. Early detection of vitamin B12 deficiency can allow early treatment and potentially mitigate long-term neurological sequelae. We recommend testing mothers in the third trimester of pregnancy for vitamin B12 level and/or MMA. This would enable supplementation of vitamin B12 for mother, for the benefit of the foetus/infant and early identification of vitamin B12 deficiency in the infant.

Vitamin B12 deficiency induced psychosis – a case report

Vitamin B12 is one of the most essential vitamins affecting various systems of the body. Cases of neuropsychiatry disorders due to its deficiency are more common in elderly patients with prevalence of 10–20%. The most common psychiatry symptoms reported in the literature associated with vitamin B12 deficiency was depression, mania, psychotic symptoms, cognitive impairment and delirium. Here, we report a case of vitamin B12 deficiency in a 52-year-old male who presented with psychotic features: persecutory delusions, tactile and auditory hallucinations. Patient had neither recorded psychiatry history nor any drug abuse. Medical history includes hypertension, diabetes mellitus and glaucoma. The patient was not a vegetarian. All relevant laboratory evaluations and head CT were normal except vitamin B12. The patient was treated with antipsychotics (risperidone 3 mg/day) and intramuscular vitamin B12. One week after, there was total remission of psychotic symptoms. In the follow-up during the next four months, psychiatry symptoms did not recur at any time. This case reports a rare case of vitamin B12 deficiency induced psychosis. Although there was concurrent administration of an antipsychotic along with vitamin B12, it underlines the importation of evaluation of vitamin B12 and other potential reversible causes of psychosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.