Dr. Dipesh Raj Karki

Corresponding Author: Dr. Dipesh Raj Karki, Department of Internal Medicine NIMST, Hospital Damak, Nepal; E-mail: karkidipesh@hotmail.com

Citation: Dr. Dipesh Raj Karki (2025). Osler-Weber-Rendu Syndrome: A Case Report on a Rare Vascular Disease Presented with Upper Gastrointestinal Bleeding and Anemia. American J Case Rep Clin Imag. 2025; August, 2(1),1-2.

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Abstract

Osler Weber Rendu Syndrome, also known as Hereditary hemorrhagic telangiectasia, is an autosomal dominant disorder characterized by abnormal blood vessel formation-telangiectasia and arteriovenous malformations. The most common clinical manifestation is spontaneous and recurrent nosebleeds, telangiectasia on lips, tongue, buccal, and gastrointestinal mucosa [1].

Until today, only few cases have been reported from Nepal. Here we report case of a 50-year-old female from Damak, who presented with a history of multiple foci of telangiectasia over the tongue, fatigue, anemia and black discoloration of stool. The clinical diagnosis was confirmed by Curacao Criteria characterized by epistaxis, Mucocutaneous Telangiectasia, visceral AVMs, and Family history. These are few cases report of Osler Weber Rendu Syndrome from Nepal and few documented cases who presented with typical telangiectasia on lips and anemia secondary to UGI bleed - malena. We suspect that Osler Weber Rendu Syndrome might not have been considered in the differential diagnosis of Anemia in patient presenting with telangiectasia and UGI bleeding in Nepal and suggest that it is to be kept as a differential in the given scenario.

Keywords: Osler Weber Rendu Syndrome, HHT, Nepal, Hereditary Hemorrhagic Telangiectasia, Osler Weber Rendu Syndrome, Diagnosis, Management, Bevacizumab, Case Report, Gastrointestinal Bleeding, Anemia.