[Hereditary haemorrhagic telangiectasia: importance of a multidisciplinary approach].

Abstract

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.

Cite this paper

@article{Boehlen2016HereditaryHT, title={[Hereditary haemorrhagic telangiectasia: importance of a multidisciplinary approach].}, author={Françoise Boehlen and Basile Nicolas Landis and Laurent Spahr and Anne-Lise Hachulla and Emmanuelle Ranza and Thierry P Nouspikel and Fr{\'e}d{\'e}ric Lador and Kaveh Samii and Stephane L Noble}, journal={Revue médicale suisse}, year={2016}, volume={12 520}, pages={1056-8, 1060-2} }