Hereditary hemorrhagic telangiectasia: from epistaxis to life-threatening GI bleeding

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited disorder characterized by widespread mucosal, dermal, and visceral telangiectasias, which can appear as red spots on the lips, tongue, fingers, nose, or intestines. Recurrent epistaxis is the universal presentation, but almost any organ can be affected. Gastrointestinal (usually stomach and small bowel), oral, and urogenital sites are the most common areas affected, whereas pulmonary arteriovenous fistulae can be the most catastrophic. This disorder can present at age 10, and if present, appears in most people by age 21. Gastrointestinal manifestations can cause minor-to-life-threatening bleeding and can lead to the need for liver transplantation. Therapy for HHT includes laser and Argon treatments, embolization, hormones, and surgery. Family members should be screened to provide early recognition and treatment. Gastroenterology nurses should be aware of this rare but potentially fatal disorder as it can be diagnosed or ruled out in the endoscopy suite.