遺傳性出血性血管擴張症 － 病例報告

Osler-Weber-Rendu症候群，是一種遺傳性出血性血管擴張症(hereditary hemorrhagic telangiectasia, HHT)。主要發生在白種人中，盛行率約10萬分之1~2左右，亞洲人種罕見。本院於2001年經歷一名60歲男性，主訴約20歲開始經常性鼻出血、舌頭、口腔黏膜出血，家族中多人亦有相同之出血情形。符合HHT診斷標準(Curacao criteria)，確定是遺傳性出血性血管擴張症，胸部電腦斷層與腦部核磁共振血管攝影檢查，並無血管瘤跡象，故僅以雷射控制舌頭上的毛細血管擴張點的出血。此病症之臨床診斷並不困難，但內臟器官血管病變的篩檢，可以提早診治動靜脈畸型與腦部動脈瘤，降低疾病致死率。

關鍵字

Osler-Weber-Rendu症候群；遺傳性出血性血管擴張症；動靜脈畸型

並列摘要

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is a systemic autosomal dominat vascular disorder characterized by recurrent hemorrhage with an estimated incidence of approximately 1 to 2 per 100,000 people. Major clinical manifestations include frequent epistaxis, mucosal telangiectases and arteriovenous malformations. In February 2001, a 60-year-old man complained of frequent bleeding of his tongue since his second decade. He had recurrent epistaxis, mucous membrane telangiectases and positive family history. Computed tomography of the chest and magnetic resonance angiography of the brain showed no angiodysplasias. The tongue lesions were treated by using CO2 laser. He is doing well except for occasional minor bleeding of tongue. We emphasize the importance of vascular screening, which is recommended for all HHT patients and their families, to reduce morbidity and mortality.

並列關鍵字

Osler-Weber-Rendu syndrome ； hereditary hemorrhagic telangiectasia ； arteriovenous malformation

國際替代計量

遺傳性出血性血管擴張症－病例報告

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