Case Presentation: A 52 year old African American male with past medical history of hereditary hemorrhagic telangiectasia (HHT) on aminocaproic acid presents with epistaxis and hematochezia with a hemoglobin of 6.7 g/dL. Patient was diagnosed with HHT in his mid-30s when found to be profoundly anemic with reported hemoglobin of below 3 g/dL during incarceration. Patient has a lifelong history of recurrent epistaxis and lower gastrointestinal bleeding requiring recurrent transfusions and prolonged hospital stays. Patient notably with a father and several siblings who died due to fatal gastrointestinal bleeds. The patient underwent endoscopy/colonoscopy with cauterization of duodenal ulcer and surrounding arteriovenous malformations (AVMs). Hematochezia eventually resolved, however, patient continued to have recurrent episodes of large volume epistaxis. Due to perceived poor outcomes of prior nasal procedures, patient declined otolaryngologic intervention. Patient opted for medical management despite the limited pharmacological treatments that were offered. Patient’s home dose of amiocaproic acid of 1 gram was briefly discontinued after the discovery of a chronic left colic vein thrombosis. Given continued hemodynamically significant epistaxis episodes, decision was made to restart amiocaproic acid despite its potential thrombotic side effects. Patient was loaded with an IV infusion of 3 grams followed by 1 gram of aminocaproic acid every hour for twelve hours. His symptoms persisted and was administered a repeat aminocaproic acid load. He was discharged with a maintenance dose of 3 grams at 6 AM, 1 gram at 9 AM and 1 gram at noon. Patient made plans to meet with an out-of-network otolaryngologist for potential bevacizumab injections to better manage his epistaxis.
Discussion: Hereditary hemorrhagic telangiectasia (HHT) is a disorder of aberrant blood vessel formation resulting in the development of arteriovenous malformations throughout the body. Clinical manifestations range widely; from self-limited epistaxis to fatal gastrointestinal, pulmonary or cerebral hemorrhage. HHT is a rare autosomal dominant genetic disorder with a prevalence of about 1:5000 people. The disease has been classically associated with Caucasian ethnicities, however, recent studies suggest more widespread geographic distribution with the possible underdiagnosis in specific ethnic populations. African descent should not preclude the diagnosis of HHT. Diagnosis is made in individuals with the presence of at least three major clinical findings: 1) frequent epistaxis, 2) mucocutaneous telangiectasias, 3) visceral AVMs, and 4) first-degree relative with HHT. Management of HHT primarily depends on the locations of AVMs and the organs involved as systemic therapy is limited. Our patient had some improvement with the fibrinolytic agent, aminocaproic acid. A single randomized control trial showed a 50% decreased in epistaxis, though no significant improvement in the primary outcome of hemoglobin levels were observed.
Conclusions: This case highlights the presence of HHT in a patient of African descent requiring systemic therapy for refractory disease. Given HHT’s potentially fatal complications, early diagnosis is paramount in initiating preventative screening and surveillance. HHTshould be considered in all populations and ethnicities. Treatment is case dependent but systemic therapy with aminocaproic acid is a reasonable strategy for prevention of potentially catastrophic major bleeding events.