A Parrot, M Barral, X Amiot, C Bachmeyer, I Wagner, M Eyries, S Alamowitch, S Ederhy, R Epaud, S Dupuis-Girod, J Cadranel
Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler - Weber disease, is a rare, autosomal dominant vascular disease, with prevalence of 1/5,000. The condition is characterized by muco-cutaneous telangiectasias, which are responsible for a hemorrhagic syndrome of variable severity, as well as arteriovenous malformations (AVMs) appearing in the lungs, the liver, and the nervous system. They can be the source of shunts, which may be associated with high morbidity (neurological ischemic stroke, brain abscess, high-output heart failure, biliary ischemia…)...
May 2023: Revue des Maladies Respiratoires