Hereditary haemorrhagic telangiectasia: importance of a multidisciplinary approach
Boehlen, F.ço.; Landis, B.N.; Spahr, L.; Hachulla, A.-L.; Ranza, E.; Nouspikel, T.; Lador, F.éd.ér.; Samii, K.; Noble, S.ép.
Revue Medicale Suisse 12(520): 1056-1058; 1060-1062
2016
ISSN/ISBN: 1660-9379 PMID: 27424345 Document Number: 689919
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.