Non-Familial Hereditary Hemorrhagic Telangiectasia In A Middle-Aged South Asian Male- A Case Report

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. [Bharadwaj S Natl J Integr Res Med, 2024; 15(1):45-48, Published on
Dated: 26/01/2024]`