Case report of hereditary hemorrhagic telangiectasia with pulmonary and hepatic arteriovenous malformations

Abstract

Hereditary hemorrhagic telangiectasia (HHT) (Osler–Weber–Rendu syndrome) is a rare vascular disorder that usually presents with epistaxis, mucocutaneous telangiectasia, and gastrointestinal bleeding. Patients with pulmonary arteriovenous malformations (AVMs) are at serious risk of cerebral stroke due to paradoxical embolism, indicating the need for early diagnosis and intervention. We report a 24-year-old man who presented with hypoxemia and a history of recurrent spontaneous epistaxis, and radiologic workup demonstrating pulmonary and hepatic AVMs. He was diagnosed with HHT and treated by endovascular embolization.

Keywords

• arteriovenous malformations
• endovascular embolization
• epistaxis
• hereditary hemorrhagic telangiectasia