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Recalcitrant Epistaxis: A case report of Hereditary Haemorrhagic Telangiectasia
Ravi Roy1, Mandavi Dwivedi1, Himanshu Swami1
1Department of ENT-HNS, Army Hospital Research and Referral, New Delhi, India.
Abstract:
Hereditary haemorrhagic telangiectasia, also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue common in Western countries. It is characterized by the classical triad of mucocutaneous telangiectasia, arteriovenous malformations with recurrent epistaxis. Here we report a rare case of Hereditary haemorrhagic telangiectasia in a 66-year-old Indian male who presented with a history of recurrent epistaxis of forty years duration. The nasal telangiectasias were ablated under narrow band imaging guidance. The rarity of diagnosis was aided by clinical exome sequencing to confirm the disease.

