This case highlights delayed recognition of HHT in the absence of recurrent epistaxis, followed by serious intracranial and gastrointestinal complications, suggesting that overreliance on classic mucocutaneous features may contribute to diagnostic delay.
Key Findings
Results
A 71-year-old man with HHT remained clinically asymptomatic until age 67, representing an atypical presentation without the hallmark symptom of recurrent epistaxis.
The patient did not develop symptoms until age 67, despite HHT having near-complete penetrance with 97% of patients exhibiting symptoms by age 60.
His first manifestations at age 67 were spontaneous bilateral subdural hematomas and gastrointestinal bleeding, rather than the typical early-onset recurrent epistaxis.
The absence of recurrent epistaxis contributed to a delayed diagnosis of HHT.
Results
The patient presented at age 71 with severe iron-deficiency anemia requiring blood transfusion, attributed to intermittent occult gastrointestinal blood loss from AVMs.
Laboratory findings showed 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.
He received 4 units of packed red blood cells, resulting in symptomatic improvement.
His presenting symptoms included a 1-month history of progressive shortness of breath, fatigue, dizziness, and lower-extremity edema.
Follow-up esophagogastroduodenoscopy and colonoscopy findings were normal, leaving intermittent occult gastrointestinal blood loss as the leading consideration given his prior history of bleeding gastrointestinal AVMs.
Capsule endoscopy, recommended to screen for small-bowel telangiectasias, was deferred.
Results
Imaging did not identify any additional visceral malformations beyond the patient's known history of gastrointestinal AVMs.
Standard imaging performed during the current presentation revealed no new visceral malformations.
Standard upper and lower endoscopy were also unrevealing, highlighting the diagnostic challenge of occult small-bowel involvement.
Capsule endoscopy was recommended but deferred, leaving potential small-bowel telangiectasias uncharacterized.
Background
HHT is a rare vascular disorder with near-complete penetrance, with 97% of patients exhibiting symptoms by age 60, and earliest symptoms typically include recurrent epistaxis appearing in childhood.
HHT is characterized by multisystem arteriovenous malformations (AVMs).
Severe outcomes including cerebral hemorrhage and thrombotic complications can increase morbidity and mortality.
The condition is estimated to have near-complete penetrance such that 97% of patients exhibit symptoms by age 60.
The earliest symptoms often appear in childhood and typically encompass recurrent epistaxis.
Conclusions
Overreliance on classic mucocutaneous features such as recurrent epistaxis may contribute to diagnostic delay in atypical HHT presentations.
The authors conclude that clinicians should consider HHT in older adults with otherwise unexplained AVM-related hemorrhage or anemia.
The case demonstrates that serious intracranial and gastrointestinal complications can occur in HHT patients who lack the hallmark symptom of recurrent epistaxis.
Earlier recognition could facilitate timely screening and management in atypical cases.
What This Means
This research describes a case of a 71-year-old man with hereditary hemorrhagic telangiectasia (HHT), a rare inherited condition causing abnormal blood vessel formations throughout the body. Unusually, this patient had no history of the condition's most common early warning sign — frequent nosebleeds — and was not diagnosed until age 67, when he suffered spontaneous bleeding inside his skull (bilateral subdural hematomas) and gastrointestinal bleeding. At age 71, he presented again with severe anemia, likely from ongoing hidden bleeding in his digestive tract from abnormal blood vessels, requiring a transfusion of four units of red blood cells.
This research suggests that HHT can occur without the typical nosebleed symptoms that doctors commonly look for, and that this absence can lead to significant delays in diagnosis. In this patient, the delay meant that serious, life-threatening complications — including brain bleeding — occurred before the condition was recognized. Standard endoscopy of the upper and lower digestive tract found nothing, highlighting how difficult it can be to identify the source of bleeding in these patients, particularly when abnormal vessels are located in the small intestine.
The practical implication of this case is that doctors should consider HHT as a possible diagnosis in older patients who have unexplained bleeding, abnormal blood vessel formations, or anemia that cannot be explained by more common causes — even if the patient has never had frequent nosebleeds. Waiting for classic symptoms before investigating may result in missed or delayed diagnoses and preventable serious complications.
Syed D, Khan F, Khan N. (2026). Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed Diagnosis.. The American journal of case reports. https://doi.org/10.12659/AJCR.953158