V Cottin1, A-S Blanchet, J-F Cordier. 1. 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. vincent.cottin@chu-lyon.fr
Abstract
INTRODUCTION: 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. STATE OF THE ART: 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. CONCLUSION: 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.
INTRODUCTION: 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. STATE OF THE ART: 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. CONCLUSION: 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.