Hereditary Haemorrhagic Telangiectasia of Nasal Mucosa- A Case Report

Abstract

Hereditary Haemorrhagic Telangiectasia (HHT) is also known as Osler-Weber-Rendu syndrome is a developmental disorder of blood vessels. It is characterised by multiple telangiectases and Arteriovenous Malformations (AVMS) that cause direct connections between arteries and veins bypassing intermediate capillaries. The most prominent sites for telangiectasia are the lips, tongue, face, mucosa of the nose, oral cavity, and gastrointestinal tract. Telangiectases can rupture and bleed easily due to their thin walls, narrow tortuous courses, and proximity to the skin’s surface or a mucous membrane. Depending on the organ affected, these symptoms include repeated persistent epistaxis, skin lesions, haemoptysis, gastrointestinal haemorrhage, and stroke. Complications of HHT include bleeding, anaemia, followed by stroke, pulmonary AVM, Transient Ischaemic Attack (TIA), hypovolaemic shock due to severe intractable bleed, eventually leading to high output failure. Present case is of a 45-year-old female who presented with complaints of recurrent epistaxis. Diagnostic nasal endoscopy showed multiple telengiectasic spots which were cauterised with trichloroacetic acid. However, recurrent episodes of bleed were encountered.

Keywords

• blood vessels
• epistaxis
• endothelium