Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of the vasculature associated with mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs). These manifestations can frequently lead to chronic blood loss and iron deficiency anemia. In some cases, anemia can be severe and transfusion-dependent, reflecting an advanced disease phenotype with persistent vascular involvement and cumulative blood loss. This report presents a case of a 58-year-old female with a known diagnosis of HHT who presented with fatigue, dizziness, and chronic melena, and was found to have a hemoglobin level of 4.7 g/dL. Imaging revealed persistent pulmonary AVM disease, which may increase cardiopulmonary demand, particularly in the setting of severe anemia, and may contribute to complications if left untreated. The patient required transfusion of five units of packed red blood cells and underwent endoscopic ablation of multiple telangiectasias in the stomach and duodenum. This case underscores the persistent nature of HHT-related gastrointestinal bleeding and the cardiopulmonary consequences of multi-system AVM burden. It emphasizes the necessity for multidisciplinary care and ongoing surveillance in patients with HHT to prevent symptom progression.
Shetty et al. (Sun,) studied this question.