Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients

Abstract

Hereditary hemorrhagic telangiectasia (HHT), previously known as Osler–Weber–Rendu syndrome, is an autosomal dominant vascular disorder with a variety of clinical manifestations. Mucocutaneous telangiectasias are characteristic of the entity, producing epistaxis and gastrointestinal bleeding that often result in an iron-deficiency anemia. However, life-threatening conditions such as hemorrhage or stroke are usually attributable to the presence of arteriovenous malformations (AVMs) in the pulmonary, cerebral, or hepatic circulations. Pulmonary arteriovenous malformations (PAVMs) are direct communications between the pulmonary arteries and pulmonary veins without an interposed capillary bed; PAVMs thereby serve as a potential conduit for paradoxical embolism that can cause cerebrovascular ischemia or cerebral abscess formation. Also, because PAVMs serve as a physiologic right-to-left shunt, patients can present with high-output heart failure, dyspnea, platypnea, and/or secondary polycythemia. Finally, the friability of the abnormal vasculature often causes PAVMs to increase in size over time or hemorrhage, resulting in hemoptysis or hemothorax. The technical complexity of PAVM embolotherapy and the clinical depth needed to adequately provide long-term follow-up care for the proband and their affected family members makes PAVM management of HHT patients an especially rewarding aspect of clinical interventional radiology.