REVIEW ARTICLES: A rare and misdiagnosed bleeding disorder: hereditary hemorrhagic telangiectasia

Abstract

History of the disease Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease in which abnormal communications between arteries and veins, the so-called telangiectases, occur in the skin, mucosal surfaces, and solid organs [1]. Small telangiectases on the face may present an important cosmetic problem, but larger lesions can be a source of chronic blood loss, systemic emboli, hypoxemia, hepatic dysfunction, and high-output cardiac failure. HHT is an uncommon disease with an overall frequency calculated between 1 per 5000 and 10 000 persons [2]. In the literature, over the past 160 years, many disorders have been attributed to HHT but the criteria for a definite diagnosis have been established only few years ago. The clinical diagnosis of HHT is based on the presence of at least three of the following characteristics: recurrent epistaxis, mucocutaneous telangiectases, evidence of autosomal dominant inheritance, and visceral arteriovenous malformations [3]. No mention of illnesses which could be reasonably attributed to HHT or a similar disease can be found in the early medical