Osler-Weber-Rendu syndrome: Case report

Abstract

Osler–Weber–Rendu syndrome, also known as hereditary haemorrhagic telangiectasia (HHT), is a rare disorder of the fibrovascular tissue. It is an under-recognized disorder that results from multisystem vascular dysplasia. It is characterized by telangiectasias and arteriovenous malformations (AVMs) of skin, mucosa and viscera. Most affected persons present with recurrent epistaxis which increases in frequency and severity with age. We report a 35 year old male farmer who was admitted on account of several episodes of epistaxis which started since he was five years old. He also started having recurrent haematochezia three years prior to presentation. Examination revealed multiple telangiectasias on his tongue and buccal mucosa. A colonoscopy done revealed multiple angiodysplasias in the transverse as well as the sigmoid colon. Pertinent questions that remain to be answered include the true prevalence of HHT in Nigeria and sub-Saharan Africa.

Keywords: Osler-Weber-Rendu, Hereditary haemorrhagic telangiectasia, Epistaxis, Arteriovenous Malformations, Angiodysplasia

Key Messages: This is a rare condition with only two previously reported cases from Nigeria. Reporting this case will further raise the awareness of its existence in sub-saharan Africa and remind the clinician of its possibility in cases of unexplained recurrent epistaxis.