Osler weber rendu syndrome: A rare case report

Introduction: Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma, rupture causing skin and mucosal bleeding. It is an autosomal dominant inheritance characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations and positive family history. We report a case of Osler Weber Rendu syndrome in a 50 year old male. Keywords: Osler weber rendu, Epistaxis, Telengiectasia. Introduction Osler weber rendu syndrome also known as hereditary hemorrhagic telangiectasia, is characterized by small tuft of dilated capillaries scattered over the skin and mucous membranes. It is an autosomal dominant disorder. The clinical triad of hereditary hemorrhagic telangiectasia consists of recurrent epistaxis, telangiectasias and positive family history. Recurrent epistaxis is the most frequent symptom which is usually of childhood onset. Telangiectasia presents as punctate, linear or spider like appearance involving skin, tongue, ears, palms, soles, finger tips, nail beds, oral and nasal mucous membranes. The mucosal lesions usually blanch on pressure and they are more vulnareble to spontaneous rupture and leads to bleeding. These are often associated with Arterio venous malformations affecting lung, liver and/ or brain. These patients have an abnormal plasma concentrations of transforming growth factor-beta (TGF-?) and vascular endothelial growth factor (VEGF) secondary to mutations in ENG, ACVRL1 and MADH4. Iron deficiency and associated anemia are frequent complications of the disease due to recurrent epistaxis and/or gastrointestinal bleeding. Case Report A 50 yr old male presented with telengiectasias on the tongue for past 6 months. He has been suffering from frequent episodes of mild to severe nasal bleeding since childhood. Blood transfusions were given twice for correction of anaem