Hereditary Hemorrhagic Telangiectasia in a Young Adult: Gastrointestinal Arteriovenous Malformations as a Presenting Feature

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVM) in which arteries and venules are connected directly without intervening capillaries. The primary clinical presentation is spontaneous and recurrent nosebleeds (epistaxis), typically starting around 12. Telangiectases, which are small arteriovenous malformations, are commonly found in mucocutaneous areas and gastrointestinal (GI) mucosa. The presentation of epistaxis precedes the occurrence of telangiectases. Larger AVMs most commonly affect the lungs, liver, or brain, and complications from bleeding or shunting can be potentially life-threatening. Here, we discuss the case of a 44-year-old man who presented to the emergency department with a chief complaint of fatigue for three weeks associated with shortness of breath. His eventual labs revealed severe anemia with a hemoglobin of 4.4 g/dL. He denied any history of symptoms of GI bleeding. Computed tomography of the abdomen was done which did not reveal any intra-abdominal bleeding, hematoma, or abnormality. Further history revealed a recent diagnosis of HHT in his mother through genetic testing. During the stay, he also developed spontaneous epistaxis which was treated with topical vasoconstrictors by the ear, nose, and throat (ENT) physician. Given the high likelihood of HHT, he underwent luminal evaluation. Upper and lower endoscopies of the gut revealed multiple AVMs. A diagnosis of HHT was established as he fulfilled the criteria required for the diagnosis of HHT. It is rare for individuals with HHT to experience GI bleeding before the age of 50, making this case unique.