Pulmonary Arteriovenous Malformation in a Rare Case of Hereditary Hemorrhagic Telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia is a rare condition presenting with anemia requiring transfusion and nosebleeds often refractory to supportive therapy. We discuss a case of a male in his 60s with a history of epistaxis, anemia requiring transfusions, and acute on chronic worsening shortness of breath presenting for evaluation. He was diagnosed with hereditary hemorrhagic telangiectasia. In addition, he was found to have pulmonary arteriovenous malformations and nonbleeding gastric telangiectasias. The patient underwent coil embolization of pulmonary arteriovenous malformations with a resolution of his shortness of breath and his anemia improved with iron supplementation.

Keywords: acvrl1; avm; epistaxis; hht; telangiectasia.