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

26 August 2026 : Case report USA

Unusual clinical course, Challenging differential diagnosis, Rare disease, Clinical situation which can not be reproduced for ethical reasons

Daniyaal Syed

^{ABEF 1*}, Farah Khan^{AEFG 2}, Numair Khan^{AEF 3}

DOI: 10.12659/AJCR.953158

Am J Case Rep 2026; 27:e953158

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Table 1 Timeline of clinical course and key diagnostic events.

Time point	Patient age (years)	Significant event
Baseline (pre-symptomatic period)	0–66	No known manifestations of HHT
One year before HHT diagnosis	67	Bilateral subdural hematomas, cerebral venous thrombosis, and gastric/small-intestinal AVMs
HHT suspected and genetically confirmed	68	Met 2 of 4 Curaçao criteria; genetic testing confirmed HHT
Recent presentation and emergency department visit	71	Presented with severe anemia, dyspnea, and dizziness; received blood transfusion in the emergency department
Follow-up (2 weeks later)	71	Improvement in anemia, dizziness, and dyspnea after transfusion and treatment
Abbreviations: AVMs, arteriovenous malformations; HHT, hereditary hemorrhagic telangiectasia.

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