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.