Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disorder characterized by multisystem arteriovenous malformations (AVMs) and mucocutaneous telangiectasias. Classic clinical features often appear in childhood and typically include recurrent epistaxis, which is frequently an early and prominent symptom. The source reports that HHT demonstrates near-complete penetrance: about 97% of affected individuals exhibit symptoms by age 60. Serious sequelae of AVMs in HHT include cerebral hemorrhage and thrombotic complications, which can substantially increase morbidity and mortality.
A 71-year-old man presented with a one-month history of progressive shortness of breath, fatigue, dizziness, and lower-extremity edema. Laboratory evaluation disclosed severe iron-deficiency anemia, with the following reported values: hemoglobin 6.4 g/dL, serum iron 21 µg/dL, total iron-binding capacity 462 µg/dL, transferrin saturation approximately 5%, and ferritin 13 ng/mL. Management included transfusion of four units of packed red blood cells, after which the patient experienced symptomatic improvement.
These findings framed the clinical concern for ongoing blood loss as the proximate cause of the iron-deficiency anemia and symptoms of cardiorespiratory compromise in an older adult with known vascular lesions.
Imaging performed during the evaluation did not identify additional visceral malformations in the studies reported. Follow-up endoscopic evaluations—esophagogastroduodenoscopy and colonoscopy—were documented as normal. Despite negative upper and lower endoscopic findings, the clinical team considered intermittent occult gastrointestinal blood loss the leading explanation for the patient’s iron-deficiency anemia because of his prior history of bleeding gastrointestinal AVMs and the laboratory profile consistent with chronic iron loss.
Capsule endoscopy, which was recommended to evaluate the small bowel for telangiectasias, was deferred by the patient or clinical team; the source does not report results from capsule endoscopy because it was not completed.
The patient’s medical history included a delayed diagnosis of HHT. He had remained clinically asymptomatic until age 67, at which time he developed spontaneous bilateral subdural hematomas and gastrointestinal bleeding—serious hemorrhagic complications attributable to AVMs. The absence of recurrent epistaxis contributed to a non-classic presentation and, according to the authors, likely contributed to the delay in recognizing HHT in this individual.
The report emphasizes that although epistaxis is a commonly cited hallmark of HHT, its absence does not exclude the diagnosis and reliance on classic mucocutaneous signs can lead to missed or delayed identification of the disorder.
This case highlights several clinical points supported by the source:
HHT can present atypically in older adults and may lack the classic early manifestation of recurrent epistaxis. Relying solely on mucocutaneous findings risks diagnostic delay.
Severe iron-deficiency anemia in an adult with a history of AVMs should prompt consideration of ongoing occult bleeding from vascular lesions even when standard upper and lower endoscopies are negative.
Small-bowel evaluation (for example, capsule endoscopy to detect small-bowel telangiectasias) may be appropriate when suspicion for occult gastrointestinal bleeding persists; in this case capsule endoscopy was recommended but deferred and therefore not reported.
Timely recognition of HHT can facilitate targeted screening for AVMs in critical organs and appropriate management to reduce the risk of catastrophic hemorrhagic events.
The authors recommend that clinicians consider the diagnosis of HHT in older patients who present with otherwise unexplained AVM-related hemorrhage or iron-deficiency anemia, even when classic mucocutaneous manifestations are absent.
The reported case demonstrates delayed recognition of HHT in a patient without recurrent epistaxis, culminating in serious intracranial (spontaneous bilateral subdural hematomas) and gastrointestinal bleeding and severe iron-deficiency anemia requiring transfusion. Negative findings on routine upper and lower endoscopy did not exclude intermittent occult gastrointestinal bleeding, and small-bowel evaluation was suggested but deferred. The authors conclude that overreliance on classic mucocutaneous features can contribute to diagnostic delay; clinicians should maintain suspicion for HHT in older adults with unexplained AVM-associated hemorrhage or iron-deficiency anemia to enable appropriate screening and management.