Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed...

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disorder characterized by multisystem arteriovenous malformations (AVMs). The earliest symptoms often appear in childhood and typically encompass recurrent epistaxis. Severe outcomes, including cerebral hemorrhage and thrombotic complications, can increase morbidity and mortality. HHT is estimated to have near-complete penetrance, such that 97% of patients exhibit symptoms by age 60. CASE REPORT A 71-year-old man presented with a 1-month history of progressive shortness of breath, fatigue, dizziness, and lower-extremity edema. Further evaluation revealed severe iron-deficiency anemia (hemoglobin 6.4 g/dL, serum iron 21 µg/dL, total iron-binding capacity 462 µg/dL, transferrin saturation ~5%, and ferritin 13 ng/mL). He received 4 units of packed red blood cells, resulting in symptomatic improvement. Imaging did not identify any additional visceral malformations; follow-up esophagogastroduodenoscopy and colonoscopy findings were normal. Despite negative endoscopic findings, intermittent occult gastrointestinal blood loss remained the leading consideration given his prior history of bleeding gastrointestinal AVMs and laboratory findings consistent with iron-deficiency anemia. Capsule endoscopy-recommended to screen for small-bowel telangiectasias-was deferred. His medical history was notable for a delayed diagnosis of HHT. He remained clinically asymptomatic until age 67, when he developed spontaneous bilateral subdural hematomas and gastrointestinal bleeding. CONCLUSIONS This case highlights delayed recognition of HHT in the absence of recurrent epistaxis, followed by serious intracranial and gastrointestinal complications. Overreliance on classic mucocutaneous features may contribute to diagnostic delay. Clinicians should consider HHT in older adults with otherwise unexplained AVM-related hemorrhage or anemia to facilitate timely screening and management.