Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

Abstract

The diagnosis of hereditary hemorrhagic telangiectasia (HHT) should be considered when there is a history of recurrent epistaxes from childhood, and/or neurological events or cyanosis in a young person. If HHT is confirmed, screening for pulmonary arteriovenous malformations (PAVMs) should be undertaken in the index case and in all affected relatives, because of the risk of paradoxical embolization to the brain. An adequate screen consists of chest radiographs and measurements of oxygenation (PaO₂ or SaO₂) in the erect and supine postures. PAVMs themselves cause few symptoms. Pulmonary angiography and CT scanning are the definitive investigations. Embolization with steel coils or detachable balloons is an effective treatment.

Key Words:

hereditary hemorrhagic telangiectasia - Osler-Weber-Rendu syndrome - arteriovenous malformations