Boehlen Françoise, Landis Basile N, Spahr Laurent, Hachulla Anne-Lise, Ranza Emmanuelle, Nouspikel Thierry, Lador Frédéric, Samii Kaveh, Noble Stéphane
Rev Med Suisse. 2016 May 25;12(520):1056-8, 1060-2.
The Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is an autosomal dominant inherited disease. Its main manifestations are nosebleeds and digestive tract bleeding due to angiodysplasia. The presence of arteriovenous malformations in organs such as lung, liver, brain, etc. can cause serious complications (haemorrhage, stroke, brain abscess, hypoxemia, increased cardiac output, pulmonary arterial hypertension). Diagnosis is based on clinical criteria and can be confirmed by genetic analysis. The prevalence of this rare disease is 1/5,000 to 1/10,000 and its expression varies widely, even in the same family. The management must be multidisciplinary and based on prevention and treatment of bleeding complications as well as screening and treatment of arteriovenous malformations.
遗传性出血性毛细血管扩张症,又称朗-奥-韦氏病,是一种常染色体显性遗传病。其主要表现为因血管发育异常导致的鼻出血和消化道出血。肺、肝、脑等器官出现动静脉畸形可引发严重并发症(出血、中风、脑脓肿、低氧血症、心输出量增加、肺动脉高压)。诊断依据临床标准,并可通过基因分析加以确诊。这种罕见病的患病率为1/5000至1/10000,其表现差异很大,即使在同一家族中也是如此。治疗必须采取多学科方法,以预防和治疗出血并发症以及筛查和治疗动静脉畸形为基础。