From Refractory Iron Deficiency Anemia to the Diagnosis of Hereditary Hemorrhagic Telangiectasia Type 1: A Case Report

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs) resulting in recurrent epistaxis, gastrointestinal bleeding, iron deficiency anemia, and complications related to pulmonary and cerebral vascular shunting.We report the case of a 70-year-old man with a 20-year history of refractory iron deficiency anemia requiring frequent blood transfusions and intravenous iron therapy who presented with recurrent epistaxis, melena, exertional dyspnea, and bilateral lower-limb edema.Examination demonstrated multiple telangiectasias involving the fingertips, nasal mucosa, oral cavity, and tongue.Endoscopic evaluation revealed multiple bleeding telangiectatic lesions involving the stomach, jejunum, and colon, with argon plasma coagulation performed for hemostasis.Contrast-enhanced computed tomography demonstrated multisystem AVMs involving the lungs, liver, and spleen, while no cerebral AVM was identified.Contrast echocardiography demonstrated a delayed appearance of microbubbles in the left atrium after five cardiac cycles, consistent with an intrapulmonary shunt.Genetic testing identified a pathogenic variant in the endoglin (ENG) gene, confirming HHT type 1.A significant pulmonary arteriovenous malformation was treated with transcatheter embolization.In view of severe recurrent bleeding and transfusion-dependent anemia despite local measures, systemic bevacizumab was initiated at 5 mg/kg every two weeks for six doses, followed by monthly maintenance therapy.The patient subsequently demonstrated a marked clinical response, with improvement in hemoglobin levels and cessation of melena, without an infusion-related adverse reaction.This case highlights the importance of recognizing HHT in patients with longstanding unexplained iron deficiency anemia and recurrent bleeding from multiple vascular territories and demonstrates the potential role of systemic bevacizumab in patients with severe HHT-associated bleeding.