概述

遗传性出血性毛细血管扩张症是一种遗传性疾病,可导致动脉和静脉之间的连接异常,叫做动静脉畸形(AVM)。最常见的受累部位是鼻子、肺、脑和肝脏。

这些 AVM 可能逐渐增大,并可能出血或破裂,有时会导致灾难性的并发症。

最常见的特征为自发性、无缘由的鼻出血,有时每天一次。鼻子和肠道持续流血会导致严重的缺铁性贫血和生活质量下降。

遗传性出血性毛细血管扩张症(HHT)又称 Osler-Weber-Rendu 病,是一种遗传自父母的遗传性疾病。其严重程度因人而异,甚至在同一个家庭中也是如此。

如果您患有 HHT,您可能应该让您的孩子去检查这项疾病,因为他们可能在没有出现任何症状的情况下受到影响。

症状

遗传性出血性毛细血管扩张症的体征和症状包括:

  • 鼻出血,有时天天出血,通常从童年开始
  • 带状红色血管或微小红色斑点,特别是嘴唇、面部、指尖、舌头和口腔内表面上
  • 缺铁性贫血
  • 气短
  • 头痛
  • 癫痫发作

病因

HHT是一种遗传病。HHT为常染色体显性遗传病,如果您的父亲或母亲有 HHT,您有 50% 的患病几率。如果您有 HHT,您的孩子的患病几率为50%。

在 Mayo Clinic 治疗

Dec. 28, 2022

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