Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia.

Jan, Waseem, Tameez Ud Din, Asim, Chaudhary, Farooq Mohyud Din, Tameez-Ud-Din, Ahsan and Nawaz, Faisal (2019) Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia. Cureus, 11 (8). e5349. ISSN 2168-8184. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs

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Official URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC67791...

Abstract

Hereditary hemorrhagic telangiectasias (HHT), also known as Osler-Weber-Rendu syndrome, is an uncommon genetic disorder. It is inherited as an autosomal dominant disorder with varying penetrance and expression. The diagnosis of HHT requires the presence of at least three out of four clinical criteria. These so-called Curaçao criteria include epistaxis, telangiectasias, visceral involvement, and a family history of HHT in a first-degree relative. Visceral involvement can involve the gastrointestinal (GI) tract, resulting in the development of GI telangiectasias. One of the complications is anemia due to the chronic blood loss from these vascular malformations. Here, we present a case of a 26-year-old male who was diagnosed with HHT. He initially had episodes of epistaxis but now presented to us with features of anemia. According to the patient, he didn't have epistaxis for the past many months and on his esophagogastroduodenoscopy (EGD) and colonoscopy, there was evidence of multiple small telangiectasias seen in his stomach, duodenum, and colon. He was managed with blood transfusion and was discharged on oral iron supplementation. This is a rare cause of anemia and should be evaluated if other features of HHT are present.

Item Type: Article
Additional Information: This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs
Subjects: WI Digestive system. Gastroenterology
Divisions: Planned IP Care > Gastroentrology
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Depositing User: Mr Philip O'Reilly
Date Deposited: 21 Oct 2019 11:03
Last Modified: 21 Oct 2019 11:03
URI: http://www.repository.uhblibrary.co.uk/id/eprint/2507

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