A Case of Rendu-Osler-Weber Disease: Hereditary Hemorrhagic Telangiectasia / 대한소화기내시경학회지

ABSTRACT

Hereditary hemorrhagic telangiectasia, also knawn as Rendu-Osler-Weber disease, is a rare autosomal dominant condition characterized by telangiectases, arteriovenous fistulas, and aneurysms involving the skin and mucosa, as well as blood vessels of the lung, liver, and central nervous system. The most common clinical manifestations are epistaxis and gastrointestinal bleeding. Arteriovenous shunting leads to hepatic congestion, and congestive heart failure may occur. We report a casie of Rendu-Osler-Weber disease which revealed typical clinical symptoms and radiologic findings with a review of relevant literatures.