Refractory Iron-Deficiency Anemia and Vascular Malformation Concomitant with Aortic Stenosis: Heyde Syndrome

Objective: Rare disease Background: Heyde syndrome is characterized by anemia due to angiodysplasia, aortic valve stenosis, and acquired von Willebrand syndrome. However, the awareness regarding Heyde syndrome in clinical practice is low. We report the case of an older woman with severe refractory iron-deficiency anemia and severe aortic stenosis who was diagnosed with Heyde syndrome. Case Report: A 70-year-old woman who had been experiencing exertional dyspnea for 3 months prior to presentation was diagnosed with iron-deficiency anemia, with a hemoglobin level of 69 g/L. She did not experience any episodes of bleeding, such as nosebleeds, gum bleeding, abnormal bleeding, or melena. Upper and lower gastrointestinal endoscopy revealed no evidence of bleeding, and oral iron supplementation failed to improve the anemia. Auscultation of the chest identified an ejection systolic murmur. Chest and abdominal computed tomography showed no significant lesions or active bleeding. Capsule endoscopy of the small intestine revealed capillary dilation. Echocardiography detected severe aortic valve stenosis. Blood test results revealed a deficiency in large von Willebrand factor multimers. Therefore, Heyde syndrome was diagnosed. Aortic valve replacement surgery was performed, which resulted in an improvement in anemia and the associated symptoms. Conclusions: In cases of unexplained and treatment-resistant iron-deficiency anemia, especially if careful auscultation detects aortic stenosis, Heyde syndrome should be considered a differential diagnosis. Furthermore, screening for angiodysplasia in the gastrointestinal tract and prompt diagnosis through measurement of large von Willebrand factor multimers are imperative when investigating potential sources of bleeding.