Hereditary telangiectasia and pulmonary fistula. Case of large right-to-left shunt surgically corrected.

Abstract

Hereditary LEREDITARY hemorrhagic telangiectasia manifests itself by the formation of localized arteriovenous capillary connections that are tiny arteriovenous fistulas. The first comprehensive description was given by Rendu 1 in 1896. Osler 2 in 1901 and Weber 3 in 1907 added to knowledge of the entity, which brought about the designation "Rendu-Osler-Weber syndrome." In 1909, Hanes 4 used the term "hereditary hemorrhagic telangiectasia," which is the preferred designation. Hodgson and colleagues 5 studied 231 members of a large family of which 91 descendants had the disease entity. Of the descendants studied, 40% had telangiectasia and 6% had pulmonary arteriovenous fistulas. In 50% of the cases of pulmonary arteriovenous fistula, telangiectasia elsewhere in the body is encountered. 6 Approximately 5% to 6% of patients with Rendu-Osler-Weber syndrome have pulmonary arteriovenous fistula. 7 Pulmonary arteriovenous fistulas may occur in persons with or without hereditary hemorrhagic telangiectasia, but the close relationship makes it imperative that patients with this disorder be investigated