Cottin V, Blanchet A-S, Cordier J-F
Service de pneumologie, Centre de référence des maladies orphelines pulmonaires, Hôpital Louis Pradel, Université Lyon I, Réseau de recherche sur la maladie de Rendu-Osler, UMR 754, IFR 128 Lyon, France.
Rev Mal Respir. 2006 Apr;23 Suppl 2:4S53-4S66.
Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia) is an autosomal dominant genetic disorder with variable penetrance. It is estimated to affect at least one in ten thousand of the population in France. The diagnosis is clinical and depends on the association of epistaxis, telangiectasia, visceral manifestations of the disease, and familial occurrence.
Pulmonary arterio-venous malformations (AVM) which occur in about 15-30% of patients with this condition represent the main visceral complication of the disease. Infectious and ischaemic neurological manifestations due to paradoxical embolism may occur and may be the presenting feature. The high frequency of neurological complications even in asymptomatic patients justifies systematic screening for pulmonary AVMs, using chest radiography, contrast echocardiography, and/or chest CT. Treatment is based on percutaneous transcatheter coil vaso-occlusion of the feeding artery.
Pulmonary arterial hypertension is rare. It may be due to systemic arteriovenous shunting in the liver increasing cardiac output, or be similar to idiopathic pulmonary hypertension.
奥斯勒-韦伯-伦杜病（遗传性出血性毛细血管扩张症）是一种常染色体显性遗传疾病，具有可变的外显率。据估计，法国每万人中至少有一人受其影响。诊断依靠临床症状，取决于鼻出血、毛细血管扩张、疾病的内脏表现以及家族病史。
约15%-30%的该病患者会出现肺动静脉畸形（AVM），这是该疾病主要的内脏并发症。反常栓塞引起的感染性和缺血性神经表现可能会出现，且可能是首发症状。即便在无症状患者中，神经并发症的高发生率也说明有必要使用胸部X光、对比超声心动图和/或胸部CT对肺动静脉畸形进行系统筛查。治疗基于经皮经导管对供血动脉进行弹簧圈血管闭塞术。
肺动脉高压较为罕见。它可能是由于肝脏中的体循环动静脉分流增加心输出量所致，或者与特发性肺动脉高压类似。
