title: [Hereditary hemorrhagic telangiectasia].
abstract: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a development disorder of the vasculature characterized by telangiectases and arteriovenous malformations in specific locations. Among monogenic disorders, it is one of the most common, though affected individuals are widely underdiagnosed. The most common features of this disorder, nosebleeds, and telangiectases on the lips, hands, and oral mucosa are often quite subtle. Mutations in at least five genes may result in hereditary hemorrhagic telangiectasia, but mutations in two genes (ENG and ACVRL1/ALK1) account for approximately 85% of cases. Optimal management requires understanding the specific clinical patterns of these vascular malformations, especially their locations and timing during life. Therapeutic modulation of angiogenesis may be an effective therapy.
authors.affiliation: Service de médecine interne, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burguet, 33000 Bordeaux, France. Electronic address: pierre.duffau@chu-bordeaux.fr.
authors.forename: P
authors.initials: P
authors.lastname: Duffau
authors.affiliation: Service de médecine interne, hôpital du Haut Lévêque, CHU de Bordeaux, avenue Magellan, 33600 Pessac, France.
authors.forename: E
authors.initials: E
authors.lastname: Lazarro
authors.affiliation: Service de médecine interne, hôpital du Haut Lévêque, CHU de Bordeaux, avenue Magellan, 33600 Pessac, France.
authors.forename: J-F
authors.initials: JF
authors.lastname: Viallard
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D000818:Animals; D015703:Antigens, CD / Q000235:genetics; D018376:Cardiovascular Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D002490:Central Nervous System / Q000002:abnormalities / Q000098:blood supply; D000071063:Endoglin; D006801:Humans; D008099:Liver / Q000002:abnormalities / Q000098:blood supply; D008168:Lung / Q000002:abnormalities / Q000098:blood supply; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D051901:Smad4 Protein / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D014781:Viscera / Q000002:abnormalities / Q000098:blood supply
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C497796:SMAD4 protein, human; D051901:Smad4 Protein; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
keywords: Angiogenesis; Angiogenèse; Arteriovenous malformations; Hereditary hemorrhagic telangiectasia; Maladie de Rendu-Osler; Malformation artério-veineuse; Monogenic disease; Transmission autosomique dominante; Épistaxis