-
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 -
Experimental and Clinical... Jan 2024Although anemia is common after kidney transplant, pure erythroid aplasia due to parvovirus B19 infection is rare. Therefore, there are delays in diagnosis in transplant...
Although anemia is common after kidney transplant, pure erythroid aplasia due to parvovirus B19 infection is rare. Therefore, there are delays in diagnosis in transplant patients. Here, we aimed to raise awareness that pure red blood cell aplasia due to parvovirus B19 should be considered in the differential diagnosis of posttransplant anemia. Our report analyzes 2 kidney transplant recipients under immunosuppressive therapy who were diagnosed with pure red blood cell aplasia due to parvovirus B19 infection. Both patients were examined for anemia as a cause for transfusion dependence. Normochromic, normocytic anemia, and reticulocyte levels were low. Leukocyte and platelet counts and biochemical parameters were within reference ranges.Therefore, pure red blood cell aplasia associated with parvovirus B19 was included in the differential diagnosis. Bone marrow showed erythroid hypoplasia and megaloblastic changes with giant erythroblasts containing dark-stained inclusion structures. Results from the other series (neutrophils, lymphocytes, platelets) were within reference ranges. Parvovirus B19 immunoglobulin M and G levels were negative inbothpatients, yet serum parvovirus B19 DNA polymerase chain reaction test results were positive. Therefore, diagnosis was parvovirus B19-associated pure red blood cell aplasia. Anemia resolved completely by 4 weeks after reduction of immunosuppression and intravenous immunoglobulin. Both patients relapsed in month 5 of treatment. One patient relapsed 3 times during follow-up, with complete response to intravenous immunoglobulin for all 3 events.The second patient showed partial response to intravenous immunoglobulin after relapse. We suggest that pure red blood cell aplasia associated with parvovirus B19 should be considered in transplant patients who present with anemia and reticulocytopenia. Negative serology does not exclude thediagnosis, anditis important to perform a parvovirus B19 DNA polymerase chain reaction test. Intravenous immunoglobulin therapy is effective to cure anemia within weeks. Follow-up of patients is important because relapse may occur after treatment.
Topics: Humans; Erythema Infectiosum; Immunoglobulins, Intravenous; Kidney Transplantation; Parvoviridae Infections; Red-Cell Aplasia, Pure; Parvovirus B19, Human; DNA; Recurrence
PubMed: 36259607
DOI: 10.6002/ect.2022.0145 -
Internal Medicine Journal Apr 2024There are limited data relating to the effects of metformin-associated vitamin B12 deficiency on the risk of distal symmetrical polyneuropathy (DSPN) and megaloblastic...
BACKGROUND
There are limited data relating to the effects of metformin-associated vitamin B12 deficiency on the risk of distal symmetrical polyneuropathy (DSPN) and megaloblastic anaemia in well-characterised community-based cohorts.
AIMS
To assess inter-relationships between metformin therapy, vitamin B12 deficiency assessed using serum active B12 concentrations, and DSPN and anaemia in 1492 Fremantle Diabetes Study Phase 2 (FDS2) participants with type 2 diabetes.
METHODS
Prevalence rates of vitamin B12 deficiency (total <80 pmol/L, active <23 pmol/L) and borderline deficiency (total ≥80 and ≤200 pmol/L, active ≥23 and ≤35 pmol/L) were determined using baseline sera. The relationship between vitamin B12 status and both DSPN and anaemia was assessed using multivariable analyses.
RESULTS
Most FDS2 participants (94.4%) were vitamin B12 replete (total serum concentration >200 pmol/L, active >35 pmol/L), 2.0% were deficient (total <80 pmol/L, active <23 pmol/L) and the remainder (3.6%) borderline. Although metformin treatment increased the odds of deficiency (4.2%, 3.1% borderline) in a dose-dependent fashion (odds ratio (95% confidence interval) 39.4 (4.90-316) for >2000 mg daily compared with no treatment; P < 0.001), there was no significant association between vitamin B12 status and DSPN, anaemia (haemoglobin ≤130 g/L males, ≤120 g/L females), haemoglobin concentration or mean corpuscular volume (P ≥ 0.147). Metformin increased the likelihood of anaemia, especially at high doses, independent of vitamin B12 deficiency.
CONCLUSIONS
Since nutritional sources likely attenuate metformin-associated vitamin B12 malabsorption and its clinical sequelae in developed countries such as Australia, there is no need for routine/opportunistic serum vitamin B12 screening in metformin-treated patients.
Topics: Male; Female; Humans; Diabetes Mellitus, Type 2; Hypoglycemic Agents; Metformin; Vitamin B 12; Vitamin B 12 Deficiency; Anemia; Hemoglobins; Polyneuropathies
PubMed: 37665691
DOI: 10.1111/imj.16225 -
BMJ Case Reports Apr 2024Vitamin B is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia....
Vitamin B is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of diagnosing B deficiency in patients with neurologic but without haematologic, abnormalities. While the current incidence of B deficiency in developed countries is low, cases are likely to rise with the increased adoption of veganism. Clinicians should be aware of the variable presentations of B deficiency because delayed diagnosis and treatment increases morbidity and can cause irreversible neurological deficits.
Topics: Adult; Humans; Male; Cervical Vertebrae; Diagnosis, Differential; Neck Pain; Radiculopathy; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 38663893
DOI: 10.1136/bcr-2024-259696 -
Cureus May 2024Vitamin B12 deficiency is a common condition that is often asymptomatic, though in severe cases may cause megaloblastic anemia and even neurologic symptoms....
Vitamin B12 deficiency is a common condition that is often asymptomatic, though in severe cases may cause megaloblastic anemia and even neurologic symptoms. Occasionally, the clinical presentation can include pancytopenia and thus mimic a more concerning myelodysplastic syndrome (MDS) until corrected by B12 supplementation. In this unusual case, we present a patient with B12 deficiency who presents with severe macrocytic anemia, neutropenia, lymphocytosis, and a bone marrow morphology consistent with MDS.
PubMed: 38910768
DOI: 10.7759/cureus.60837 -
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 -
Medicine May 2024Subacute combined degeneration of the spinal cord is a degenerative disease of the central and peripheral nervous systems caused by vitamin B12 deficiency, mainly...
RATIONALE
Subacute combined degeneration of the spinal cord is a degenerative disease of the central and peripheral nervous systems caused by vitamin B12 deficiency, mainly involving the spinal cord posterior, lateral, and peripheral nerves, but rarely involving the cerebellum.
PATIENT CONCERNS
A 41-year-old woman presented with a 2-year history of walking unsteadily. Her hematologic examination revealed megaloblastic anemia and vitamin B12 deficiency. Electromyography showed multiple peripheral nerve damage (sensory fibers and motor fibers were involved). Imaging examination showed long T2 signal in the cervical, thoracic and lumbar spinal cord and cerebellum. Gastroscopy revealed autoimmune gastritis.
DIAGNOSES
Subacute combined degeneration of the spinal cord.
INTERVENTIONS
By supplementing with vitamin B12.
OUTCOMES
The patient's symptoms of limb weakness, diet, and consciousness were improved, and the muscle strength of both lower limbs recovered to grade IV.
LESSONS
The symptomatic people should seek medical treatment in time to avoid further deterioration of the disease. When esophagogastroduodenoscopy is performed as part of routine physical examination in asymptomatic people, it should be checked for the presence of autoimmune gastritis. Early diagnosis can prevent irreversible neuropathy.
Topics: Humans; Female; Adult; Subacute Combined Degeneration; Vitamin B 12 Deficiency; Gastritis; Vitamin B 12; Cerebellum; Magnetic Resonance Imaging
PubMed: 38788012
DOI: 10.1097/MD.0000000000037605 -
Biological Trace Element Research May 2024Portable X-ray fluorescence is a new tool in the study of human bone. This research aims to investigate if variations in bone elemental concentrations are related with...
Portable X-ray fluorescence is a new tool in the study of human bone. This research aims to investigate if variations in bone elemental concentrations are related with porous skeletal lesions (PSLs). One hundred well-preserved non-adult skeletons aged 0-11 years were selected from the archaeological site Convent of São Domingos, Lisbon (18th-19th century). Measuring a standard reference material and calculating the technical error of measurement assured elemental data reliability. Moreover, measuring soil samples excluded possible contamination of bones with elements from the soil, except for Pb. Additionally, the Ca/P ratio indicates maintenance of bone integrity. Cribra cranii, orbitalia, humeralis, and femoralis were recorded as present/absent, and the estimated intra-/inter-observer errors were low. The multivariate analysis found higher odds of having cribra orbitalia (OR = 1.76; CI = 0.97-3.20) and cribra femoralis (OR = 1.42; CI = 0.73-2.74) in individuals with lower Fe and higher S. Furthermore, higher levels of P, Ca, and Sr increased the odds of individuals developing cribra femoralis (OR = 2.30; CI = 1.23-4.29). Age also correlated with increased odds of exhibiting cribra orbitalia (OR = 1.86; CI = 0.94-3.68), cribra femoralis (OR = 6.97; CI = 2.78-17.45), and cribra humeralis (OR = 8.32; CI = 2.71-25.60). These findings suggest a shared etiology for these three cribras, contrasting with the higher Fe levels in individuals with cribra cranii. Lower Fe and higher S levels in individuals with cribra suggest a complex etiology, possibly involving conditions like megaloblastic or chronic disease anemia(s). Age-related elemental changes support the hypothesis that age influences cribra frequencies. This study highlights PSL complexity and opens new avenues for research.
PubMed: 38691307
DOI: 10.1007/s12011-024-04187-4 -
Family Practice Jun 2024Pseudo-thrombotic microangiopathy (pseudo- thrombotic microangiopathy (TMA)) is a rare presentation of B12 deficiency. Overlapping features like elevated LDH/total...
Unusual case of pernicious anaemia masquerading as thrombotic thrombocytopenic purpura in the setting of multiple normal vitamin B12 deficiency parameters: preventing anchoring and overdiagnosis.
BACKGROUND
Pseudo-thrombotic microangiopathy (pseudo- thrombotic microangiopathy (TMA)) is a rare presentation of B12 deficiency. Overlapping features like elevated LDH/total bilirubin with low haemoglobin/haptoglobin/platelets could deceivingly suggest thrombotic thrombocytopenic purpura (TTP) resulting in avoidable procedures/treatments.
CASE PRESENTATION
A 36-year-old female with hypothyroidism initially presented to clinic with fatigue, palpitations, lightheadedness, and dyspnoea over a 3-month duration and was found to have a haemoglobin of 5.7 g/dL. She received two packed red blood cell units in the emergency room and subsequently discharged with outpatient follow-up and empiric oral iron. During her follow-up visit, she was found to have easy bruisability, gum bleeding, and generalized weakness from hemolytic anaemia (mean corpuscular volume (MCV) 90 fL, haptoglobin <8 mg/dL, LDH >4,000 U/L and schistocytosis on CBC) and thrombocytopenia of 52 K/uL. Due to PLASMIC score of 6 and suspicion for TTP, she was transferred to our facility and tr eated with three cycles of plasma exchange and prednisone but were discontinued when ADAMTS13 levels returned normal. While the patient had normal B12 levels, further testing revealed positive intrinsic factor antibodies (IF-Ab) and an elevated MMA level of 1.56 umol/L. Replacement with cobalamin led to normalization of labs and symptoms.
CONCLUSIONS
Timely diagnosis of pseudo-TMA was exceptionally challenging due to several overlapping features with TTP including normal B12 and normal MCV. B12 levels may falsely appear normal in pernicious anemia due to IF-Ab interference with chemiluminescent immunoassay. Schistocytes lower the MCV in automated cell counters. Lower reticulocyte index (<2%), presence of immature/large platelets and teardrop cells, elevated MMA and a higher LDH (>2500) are indicative of B12 deficiency.
Topics: Humans; Female; Purpura, Thrombotic Thrombocytopenic; Adult; Anemia, Pernicious; Vitamin B 12 Deficiency; Diagnosis, Differential; Vitamin B 12
PubMed: 37294666
DOI: 10.1093/fampra/cmad065 -
Clinical Nutrition (Edinburgh, Scotland) Jun 2024
Topics: Humans; Anemia, Pernicious; Dietary Supplements; Anemia, Iron-Deficiency; Iron; Iron Deficiencies; Female; Male
PubMed: 38677043
DOI: 10.1016/j.clnu.2024.04.025