A Presentation of a Rare Disorder: Hereditary Hemorrhagic Telangiectasia




Smith, Michael
Kannan, Srijaa
Elmore, Stephanie


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Background: The purpose of this case study is to describe a presentation of a rare disorder called Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. HHT is a rare autosomal dominant disorder that leads to malformed blood vessels in various body organs. Patients may be asymptomatic or have a wide range of clinical manifestations, thus making diagnosis of this condition difficult. Case Information: A 53-year-old Caucasian female with a history of intermittent epistaxis and multiple family members with HHT presented for a well woman visit and was found to be anemic with an H&H of 10.2 and 32.9 respectively. She was referred for a bidirectional endoscopy and was found to have multiple telangiectasias and polyps in her stomach and duodenum, some treated with argon plasma coagulation (APC). Since then, she has seen an HHT specialist biannually to rule out brain, heart, and lung involvement. She has had multiple colonoscopies and endoscopies with treatment of telangiectasias and arteriovenous malformations (AVMs) with APC since then. In 2018, she was treated for a left lower lung AVM. She requires parenteral iron therapy for her anemia every 3 months. Clinically, this patient presented with recurrent nosebleeds and anemia; however, her family history indicated a strong likelihood of HHT. Conclusion: Here I discuss the clinical features of this particular presentation of HHT as well as diagnostic criteria, management, and treatment with hopes of creating awareness in the scientific and medical community about how to diagnose and manage this rare condition.