A Case of Refractory Iron Deficiency Anemia Diagnosed as Osler–Weber–Rendu Syndrome with Borderline Von Willebrand Factor Levels

Background: Osler–Weber–Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a autosomal-dominant disorder. The diagnostic criteria include: (1) spontaneous and recurrent epistaxis; (2) mucocutaneous telangiectasias; (3) visceral arteriovenous malformations; (4) first-degree relatives with HHT. Patients present with severe epistaxis, gastrointestinal bleeding, and iron deficiency anemia. Gastrointestinal bleeding is reported in 13 to 30% of patients with HHT. Treatment is generally focused on control of acute bleeding, prevention of re-bleeding, and treatment of anemia. Focal gastrointestinal tract bleeding can be treated with endoscopic coagulation, which could be life-saving. Life-threatening bleed could be secondary to pulmonary and cerebral aneurysms, and hence, screening is necessary with angiography.