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假性血栓性微血管病作为钴胺素缺乏的罕见表现

Pseudothrombotic Microangiopathy as a Rare Presentation of Cobalamin Deficiency.

作者信息

Pereira Fontes Carla, Fonseca Samuel

机构信息

Internal Medicine, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, PRT.

出版信息

Cureus. 2021 Aug 14;13(8):e17184. doi: 10.7759/cureus.17184. eCollection 2021 Aug.

DOI:10.7759/cureus.17184
PMID:34540418
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8439408/
Abstract

The hematological manifestations of cobalamin (vitamin B12) deficiency may range from asymptomatic to life-threatening forms. Pseudothrombotic microangiopathy is a rare but severe presentation, characterized by the presence of hemolysis and schistocytosis, that is completely reversible after vitamin supplementation. We present a challenging diagnostic approach of a 55-year-old man who presented with high hemolytic markers, pancytopenia, and schistocytes on the peripheral smear due to acquired cobalamin deficiency. Subsequent testing revealed positive anti-intrinsic factor and anti-parietal cell antibodies consistent with pernicious anemia. Cobalamin replacement led to the resolution of microangiopathic hemolysis and clinical improvement, thereby confirming the diagnosis. This case highlights the importance of early recognition of this syndrome, which is often misdiagnosed as true microangiopathic hemolytic anemia, confounding appropriate management.

摘要

钴胺素(维生素B12)缺乏的血液学表现范围从无症状到危及生命的形式。假性血栓性微血管病是一种罕见但严重的表现,其特征为溶血和裂细胞增多,补充维生素后可完全逆转。我们介绍了一名55岁男性具有挑战性的诊断过程,该患者因获得性钴胺素缺乏在外周血涂片上出现高溶血标志物、全血细胞减少和裂细胞。随后的检测显示抗内因子抗体和抗壁细胞抗体阳性,符合恶性贫血。补充钴胺素使微血管病性溶血得到缓解且临床症状改善,从而确诊。该病例强调了早期识别这种综合征的重要性,它常被误诊为真正的微血管病性溶血性贫血,从而混淆了恰当的治疗。

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引用本文的文献

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Pseudo-thrombotic microangiopathy due to folate deficiency.叶酸缺乏导致的假性血栓性微血管病。
BMJ Case Rep. 2023 Jan 20;16(1):e251473. doi: 10.1136/bcr-2022-251473.

本文引用的文献

1
Cobalamin deficiency presenting with thrombotic microangiopathy (TMA) features: A systematic review.表现为血栓性微血管病(TMA)特征的钴胺素缺乏症:一项系统评价。
Transfus Apher Sci. 2018 Feb;57(1):102-106. doi: 10.1016/j.transci.2018.01.003. Epub 2018 Jan 11.
2
Pernicious Anemia Associated Cobalamin Deficiency and Thrombotic Microangiopathy: Case Report and Review of the Literature.恶性贫血相关的钴胺素缺乏与血栓性微血管病:病例报告及文献综述
Case Rep Med. 2017;2017:9410727. doi: 10.1155/2017/9410727. Epub 2017 Feb 6.
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Vitamin B12 deficiency - A 21st century perspective .维生素B12缺乏症——21世纪视角
Clin Med (Lond). 2015 Apr;15(2):145-50. doi: 10.7861/clinmedicine.15-2-145.
4
Hemolysis and schistocytosis in the emergency department: consider pseudothrombotic microangiopathy related to vitamin B12 deficiency.急诊科的溶血和棘形红细胞增多症:考虑与维生素 B12 缺乏相关的假性血栓性微血管病。
QJM. 2013 Nov;106(11):1017-22. doi: 10.1093/qjmed/hct142. Epub 2013 Jul 10.
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Clinical practice. Vitamin B12 deficiency.临床实践。维生素B12缺乏症。
N Engl J Med. 2013 Jan 10;368(2):149-60. doi: 10.1056/NEJMcp1113996.
6
Conclusions of a WHO Technical Consultation on folate and vitamin B12 deficiencies.世界卫生组织关于叶酸和维生素B12缺乏症技术磋商会的结论
Food Nutr Bull. 2008 Jun;29(2 Suppl):S238-44. doi: 10.1177/15648265080292S129.
7
Megaloblastic anemia and other causes of macrocytosis.巨幼细胞贫血及其他大细胞性贫血的病因。
Clin Med Res. 2006 Sep;4(3):236-41. doi: 10.3121/cmr.4.3.236.
8
Current hematological findings in cobalamin deficiency. A study of 201 consecutive patients with documented cobalamin deficiency.钴胺素缺乏症的当前血液学表现。对201例有记录的钴胺素缺乏症患者的研究。
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9
Oral vitamin B12 versus intramuscular vitamin B12 for vitamin B12 deficiency.口服维生素B12与肌肉注射维生素B12治疗维生素B12缺乏症的比较
Cochrane Database Syst Rev. 2005 Jul 20(3):CD004655. doi: 10.1002/14651858.CD004655.pub2.
10
Vitamin B12 (cobalamin) deficiency in elderly patients.老年患者维生素B12(钴胺素)缺乏症
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