Rendú Osler Weber Syndrome or Hereditary Hemorrhagic Telangiectasia: A Case Report from Iran

Abstract

Introduction: Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare fibrovascular disorder with dominant autosomal inheritance. This syndrome is characterized by frequent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformations (AVMs) in several organs, and a family history of HHT. The most common clinical manifestations are recurrent epistaxis, gastrointestinal bleeding, iron deficiency anemia, and mucocutaneous telangiectasia. Case Presentation: Here, a 77-year-old female was presented as a known case of HHT with spontaneous epistaxis from 40 years ago, low level of hemoglobin, and hepatic vascular malformations who was managed by nasal packing, blood transfusions, and intravenous injection of the first dose of bevacizumab. Conclusions: Hereditary hemorrhagic telangiectasia is a rare dominant hereditary fibrovascular disorder with familial distribution. We report on the second family of HHT during the last 15 years in Iran and describe the presentation and treatment course of the patient. The patient, 77-year-old female with severe anemia, has been recurrently hospitalized for 40 years due to massive epistaxis. She has cutaneous telangiectasias, hepatic AVMs, and a positive family history who received conservative therapy, including transfusion of packed cells and infusing the first dose of bevacizumab. She refused to continue the treatment, and thus, her problem continued despite all modalities. She may stop the treatment course because of a lack of enough evidence for the safety and efficacy of bevacizumab, especially in this hypertensive patient, its cost, and the patient and her family's preferences. We hope the intra-nasal injection of Avastin will be effective if she follows the otolaryngologist's recommendation.