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遗传性出血性毛细血管扩张症:严重贫血的罕见病因。

Hereditary hemorrhagic telangiectasia: a rare cause of severe anemia.

作者信息

dos Santos José Wellington Alves, Dalcin Tiago Chagas, Neves Kelly Ribeiro, Mann Keli Cristina, Pretto Gustavo Luis Nunes, Bertolazi Alessandra Naimaier

机构信息

Pulmonology Department, Santa Maria University Hospital, Federal University of Santa Maria, Santa Maria, RS, Brazil.

出版信息

J Bras Pneumol. 2007 Jan-Feb;33(1):109-12. doi: 10.1590/s1806-37132007000100020.

Abstract

Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract. This disease typically presents as epistaxis, gastrointestinal bleeding and arteriovenous malformations (in the brain and lungs). Although the epistaxis and gastrointestinal bleeding can result in anemia, patients diagnosed with hereditary hemorrhagic telangiectasia rarely present severe anemia. Herein, we report the case of a 49-year-old man with severe anemia and undiagnosed hereditary hemorrhagic telangiectasia.

摘要

遗传性出血性毛细血管扩张症是一种常染色体显性疾病,其动静脉分流常见于皮肤、黏膜表面、肺、脑和胃肠道。该疾病通常表现为鼻出血、胃肠道出血以及(脑和肺的)动静脉畸形。虽然鼻出血和胃肠道出血可导致贫血,但被诊断为遗传性出血性毛细血管扩张症的患者很少出现严重贫血。在此,我们报告一例患有严重贫血且未被诊断出患有遗传性出血性毛细血管扩张症的49岁男性病例。

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