Recurrent Nasal Epistaxis, Osler-Weber-Rendu Syndrome

Abstract

Clinical Image: A 60 y/o Caucasian female presents to the emergency room with epistaxis for 45 minutes. She also had 1 episode of hematemesis. She has been having recurrent epistaxis 1-2 episodes per week for last 2 years for which she was prescribed nasal ointment. She had history of hemoptysis 4 years ago, secondary to pulmonary AVMs which required coiling. (Figure 1A). No history of bleeding disorders in family. Currently she is not using aspirin or any other anticoagulants. On physical examination, multiple telangiectasia’s were noted on the tongue (Figure 1B) and abdomen (Figure 1C). During the hospitalization, patient underwent EGD which revealed Antral and Duodenal AVMs treated with thermal therapy and clipping. She fulfilled the 3 out of 4 Curacao criteria for Osler-Weber-Rendu syndrome. Genetic testing revealed she was positive for ENG (Endoglin) mutation known as hereditary hemorrhagic telangiectasia type 1 [HHT1].