Rare genetic disorder unveiled on evaluation of occult gastrointestinal bleed

Abstract

The incidence of gastrointestinal (GI) bleed secondary to vascular ectasias in GI tract remains very less, accounting to only about 4%–5% of nonvariceal bleed. Most patients remain asymptomatic unless evident as iron deficiency anemia. We report of similar case scenario in a 65-year-old man who presented with recurrent anemia, treated with multiple blood transfusions for 6 years. The patient was found to have multiple lingual, nasal, gastric, and duodenal telangiectasias with arteriovenous malformations in the liver and lung. Considering the history, clinical findings, and investigations, a diagnosis of Osler-Weber-Rendu syndrome/hereditary hemorrhagic telangiectasia was made based on Curaçao criteria and the patient was treated with tamoxifen and argon plasma coagulation.