High importance
Aug 26, 2026
To highlight the atypical presentation and delayed diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in a 71-year-old patient who did not exhibit recurrent epistaxis, thereby emphasizing the need for broader diagnostic considerations of HHT.
A case report detailing a 71-year-old man who presented with shortness of breath, fatigue, and lower-extremity edema, coupled with lab evaluations indicating severe iron-deficiency anemia, and imaging studies yielding no visceral malformations. The report also reviews the patient's medical history, including complications related to undiagnosed HHT.
The patient was diagnosed with HHT after developing significant complications including spontaneous bilateral subdural hematomas and gastrointestinal bleeding, despite the absence of typical symptoms like recurrent epistaxis until late in life. The report indicates that reliance solely on classic mucocutaneous symptoms for HHT diagnosis can delay recognition and timely management.
The findings are based on a single case report, which may limit the generalizability of the conclusions. The absence of endoscopic findings and deferral of capsule endoscopy may also hinder comprehensive evaluation for small-bowel telangiectasias.
This case underscores the importance of considering HHT in older adults presenting with unexplained AVM-related hemorrhage or severe anemia, which can lead to timely diagnosis and prevent serious complications. It advocates for increased awareness of atypical presentations to improve outcomes in patients with HHT.
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.