Non-Familial Hereditary Hemorrhagic Telangiectasia In A Middle-Aged South Asian Male- A Case Report
No Thumbnail Available
Date
2024-01
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Association of Health Professionals and Health Educators
Abstract
Background:Hereditary Hemorrhagic Telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease with a prevalence of 1 in 5000 to 10,000. It is characterized by mucocutaneous and visceral telangiectasias with multiorgan involvement-resulting in anemia causing a continuous blood transfusion requirement.Case Description:A 45-year-old diabetic male with a history of recurrent epistaxis since 6 years of age presented with anemic heart failure. Upper GI endoscopy and contrast-enhanced CT abdomen were suggestive of multiple telangiectasias in the oral cavity, oropharynx, and jejunal angiodysplasias with duodenal erosions. The patient was diagnosed with HHT based on three out of four Curacao criteria-Recurrent spontaneous epistaxis, Telangiectasias, and Visceral lesions. The patient was treated with oral Thalidomide and Packed Red Cell transfusions. Epistaxis was conservatively managed with topical medications while the patient underwent Argon Plasma Coagulation for gastrointestinal bleeding. According to hematological opinion, Bevacizumab therapy was planned but due to non-affordability, the family decided to continue with the existing treatment and the patient succumbed a month later. Early diagnosis with a low threshold of suspicion is important to improve the quality of life and life expectancy for this disease.
Description
Keywords
Bevacizumab, Curacao Criteria, Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu Syndrome, Recurrent Epistaxis, Thalidomide
Citation
Bharadwaj S, Patel Y, Shah A, Patel Y.. Non-Familial Hereditary Hemorrhagic Telangiectasia In A Middle-Aged South Asian Male- A Case Report . Tropical Gastroenterology. 2024 Jan; 15(1): 57-60