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伴有严重贫血和复发性中枢神经系统感染的遗传性出血性毛细血管扩张症

Hereditary Haemorrhagic Telangiectasia with Severe Anemia and Recurrent CNS Infections.

作者信息

Peesapati Nrushen, Naidu Pbpr, Sunitha S, Sivaram P V

机构信息

Resident.

Assistant Professor.

出版信息

J Assoc Physicians India. 2017 Sep;65(9):96-98.

Abstract

Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections. Herein, we report the case of a 57 year-old man who presented with severe anaemia resulting in congestive cardiac failure with history of recurrent blood transfusions and recurrent CNS infections which ultimately was diagnosed as hereditary haemorrhagic telangiectasia.

摘要

遗传性出血性毛细血管扩张症,又称奥斯勒-伦杜-韦伯病,是一种罕见的常染色体显性疾病,影响多个系统的小血管,其主要病理变化是存在异常的动静脉交通。通常表现为皮肤和黏膜毛细血管扩张、鼻出血、胃肠道出血和内脏动静脉畸形。虽然鼻出血和胃肠道失血可导致贫血,但遗传性出血性毛细血管扩张症患者很少表现为严重贫血或中枢神经系统感染。在此,我们报告一例57岁男性患者,该患者因严重贫血导致充血性心力衰竭,有反复输血和反复中枢神经系统感染史,最终被诊断为遗传性出血性毛细血管扩张症。

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