(A1134) Spontaneous Unilateral Epistaxis and Telangiectasia presenting similarly to Hereditary Hemorrhagic Telangiectasia

Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare autosomal dominant disorder characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. This case report examines a rare presentation of unilateral recurrent epistaxis with intranasal telangiectasias, exploring its potential association with HHT.

Methods: We present a 65-year-old male with a 10-year history of diffuse skin telangiectasias on the left cheek and nasal sidewall, severe left-sided epistaxis, and a 20-pack-year tobacco history. His past medical history included bleeding diathesis, abdominal aortic aneurysm, coronary artery disease, and seasonal allergies. The patient denied any family history of HHT or bleeding disorders. His medications included albuterol, budesonide-formoterol, aspirin, amlodipine, rosuvastatin, and omeprazole. Nasal endoscopy revealed a deviated septum with dozens of left-sided telangiectasias, while the right nasal cavity and other regions showed no vascular lesions.

Results: The patient was treated with nasal packing and humidification techniques. Imaging ruled out cerebral aneurysms, and the patient met Curaçao criteria for suspected HHT. Genetic testing for HHT-related mutations (ENG, ACVRL1, SMAD4) was negative. No visceral arteriovenous malformations were found. Anemia was present, and platelet aggregation studies showed mild reductions in arachidonic acid release. Despite no identifiable pathogenic variant, HHT could not be ruled out due to potential undetected or unidentified genetic causes. The patient declined advanced interventions and showed no progression with conservative management.

Conclusions: This case underscores the challenges of diagnosing HHT-like conditions when genetic testing fails to identify known pathogenic variants. The findings highlight limitations in current genetic testing for distinguishing HHT from mimicking conditions or atypical cases. Investigation into other cases of unilateral epistaxis and telangiectasias is warranted to enhance diagnostic clarity and improve management strategies.