Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia

Yamanishi, M.; Koba, Shigeru; Jo, Takaaki; Kotera, Tohru; Imashuku, Shinsaku

doi:10.7754/clin.lab.2017.171138

Cited by 7 publications

(3 citation statements)

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“…A B 12 -vitamin hiánya klinikailag utánozhatja az immunhemolitikus vérszegénységre utaló laboratóriumi eltéréseket [16]. Amennyiben a fentiek mellett még a komplementrendszer aktivációja is megjelenik, az tovább nehezítheti a pontos diagnózis felállítását.…”

Section: Esetismertetésunclassified

Béta-thalassaemia, B12-vitamin-hiány és társuló komplementmediált hemolízis

Pethő

Nagy

Mezei

et al. 2023

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Közleményünkben egy 67 éves férfi beteg esetét mutatjuk be. A beteget gyengeség és ismételt szédülés miatt vettük fel Klinikánkra. Laborvizsgálatai súlyos microcytás vérszegénységet jeleztek, emiatt a felvételt követő napokban 6 egység választott vér transzfúziójára szorult. Betegünknél a kivizsgálása során béta-thalassaemia minor igazolódott, melyhez súlyos B12-vitamin-hiány is társult. Meglepő módon a B12-vitamin-hiánnyal párhuzamosan komplement mediálta autoimmun hemolízisre utaló laboreltéréseket is észleltünk. A beteg vérképe a B12-vitamin-hiány korrigálását követően rendeződött, és az észlelt immunológiai eltérések is megszűntek. A hemoglobingén genetikai vizsgálata a c.118C>T (p.Gln40STOP) variánst heterozigóta formában igazolta. A béta-thalassaemia viszonylag gyakori hematológiai megbetegedésnek számít, bár Magyarországon ritkán találkozhatunk vele. A betegek genetikai vizsgálata a Debreceni Klinikai Központ Laboratóriumi Medicina Intézetében lehetséges. Publikált hazai epidemiológiai adatokról nincs pontos tudomásunk. A diagnózis felállítását nehezítheti, ha a kórkép más hematológiai rendellenességekkel is kombinálódik, mint a B12-vitamin hiánya, mely bizonyos vonásaiban a hemolitikus vérszegénységet képes klinikailag utánozni. Esetünk irodalmi ritkaságnak számít, ezért pozitív családi anamnézis esetén javasolható az egyenes ági családtagok szűrése, mely esetleg megkönnyítheti egy későbbi diagnózis pontos felállítását. Orv Hetil. 2023; 164(24): 954–960.

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Section: Esetismertetésunclassified

Béta-thalassaemia, B12-vitamin-hiány és társuló komplementmediált hemolízis

Pethő

Nagy

Mezei

et al. 2023

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“…These cases are characterised by haemolysis, thrombocytopenia, and schistocytosis with higher mean LDH levels. 46 Very high LDH levels, mild-moderate thrombocytopenia, and a low reticulocyte count are strongly suggestive of pseudothrombotic microangioapthy and should prompt the physician to screen for cobalamin deficiency. 47 Bone marrow biopsy and aspiration are not necessary for the diagnosis of megaloblastic anaemia (Figure 2) and may be misleading in cases of severe pancytopenia with hypercellularity, increased erythroblasts, and even cytogenetic abnormalities, confusing the diagnosis with acute leukaemia.…”

Section: Diagnosis Of Pernicious Anaemiamentioning

confidence: 99%

Pernicious Anaemia: Mechanisms, Diagnosis, and Management

et al. 2020

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Pernicious anaemia (PA) is an autoimmune disease of multifactorial aetiology involving environmental and immunological factors. It is the most common cause of cobalamin deficiency anaemia worldwide. The disease is a macrocytic anaemia caused by a vitamin B12 deficiency, which, in turn, is the result of intrinsic factor deficiency, a protein that binds avidly to dietary vitamin B12 and promotes its transport to the terminal ileum for absorption. Despite the advances in understanding the pathogenesis and molecular biology, diagnosis of PA is still challenging for clinicians because of its complexity, diverse clinical presentations, and the limitations of the available diagnostic tools for the evaluation of cobalamin status and the presence of chronic autoimmune atrophic gastritis. Asymptomatic autoimmune gastritis, a chronic inﬂammatory disease of the gastric mucosa, precedes the onset of corpus atrophy by 10–20 years. Diagnostic dilemmas could occur when patients with PA present with spuriously normal or high cobalamin levels, normocytic or microcytic anaemia, nonanaemic macrocytosis, autoimmune haemolytic anaemia, pseudo-thrombotic microangiopathy, hyperhomocysteinemia-associated thromboembolism, pseudoleukemia, bone marrow failure, and neurologic manifestations without anaemia or macrocytosis. Other autoimmune disorders, especially thyroid disease, Type 1 diabetes mellitus, and vitiligo, are also commonly associated with PA. The present review focusses on novel aspects regarding the pathogenesis, clinical presentation, and the diagnostic approach of PA; the true usefulness of serum vitamin B12 levels; and the risk of adenocarcinoma and gastric carcinoids as well as their treatment and monitoring strategies.

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“…In one cohort of patients with vitamin B12 deficiency, it led to severe anemia defined as Hgb < 6 g/dL in 2.5% of the patients and hemolytic anemia in 1.5% of the patients [ 3 ]. This presentation can mimic a thrombotic microangiopathy [ 4 ]. Quickly being able to identify vitamin B12 deficiency as the cause can lead to simple therapy with vitamin B12 replacement and avoid unnecessary treatments such as plasma exchange.…”

Section: Introductionmentioning

confidence: 99%

Severe Hemolytic Anemia due to Vitamin B12 Deficiency in Six Months

Sadagopan

2022

Hematology Reports

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Gastric bypass is a common cause of vitamin B12 deficiency. It can lead to patients presenting with symptoms of anemia. The body has significant reserves of vitamin B12 and loses vitamin B12 slowly. The following case is of a patient who underwent a gastric bypass five years ago and whose hemoglobin (Hgb) dropped from 12.2 g/dL to 4.4 g/dL over six months due to questionable adherence to vitamin supplements. Further work-up showed hemolytic anemia and thrombocytopenia due to a very low vitamin B12 level of 47 pg/mL, with his blood counts improving with vitamin B12 supplementation. The case points to the importance of thinking about vitamin deficiency as a cause of hemolysis to avoid unnecessary procedures.

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Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia

Abstract: In elderly patients exhibiting hemolytic features in association with macrocytic anemia, vitamin B12 deficiency should be considered in the differential diagnosis.

Cited by 7 publications

References 0 publications

Béta-thalassaemia, B12-vitamin-hiány és társuló komplementmediált hemolízis

Béta-thalassaemia, B12-vitamin-hiány és társuló komplementmediált hemolízis

Pernicious Anaemia: Mechanisms, Diagnosis, and Management

Severe Hemolytic Anemia due to Vitamin B12 Deficiency in Six Months

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