Hereditary hemorrhagic telangiectasia presenting with severe nasal bleeding: an ENT perspective

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu syndrome, is a rare autosomal dominant vascular disorder characterized by mucocutaneous telangiectasia and visceral arteriovenous malformations. Recurrent epistaxis is the most common and often the earliest manifestation, frequently bringing patients to the otorhinolaryngologist. We report a case of a patient presenting with recurrent, spontaneous, and progressively severe nasal bleeding. Anterior rhinoscopy and diagnostic nasal endoscopy revealed multiple, discrete, bilateral telangiectatic lesions over the nasal septum, floor of the nasal cavity, and inferior turbinates, which bled on touch, making cauterization difficult at certain sites. Mucocutaneous telangiectasia over the lips and oral cavity with a positive family history supported the diagnosis. Based on clinical findings and established diagnostic criteria, a diagnosis of definite Hereditary Hemorrhagic Telangiectasia was made. The patient was managed with local nasal measures and supportive therapy. This case highlights the importance of early recognition of HHT by ENT specialists to enable timely diagnosis, appropriate management, and prevention of systemic complications.