Hereditary hemorrhagic telangiectasia

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 under-diagnosed. 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. (C) 2013 Societe nationale francaise de medecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.