부산대학교 도서관

Background: Hereditary Haemorrhagic Telangiectasia (the Rendu-Osler-Weber syndrome) is a relatively common, underrecognized autosomal dominant disorder that results from multisystem vascular dysplasia. It makes vascular walls vulnerable to trauma and rupture, causing telangiectases and arteriovenous malformations of skin, mucosa and viscera. It is clinically characterized by recurrent epistaxis, telangiectasia lesions on the face, hands and oral cavity, visceral arteriovenous malformations and positive family history. Epistaxis is often the first manifestation associated with haematologic, neurologic, pulmonary, dermatologic and gastrointestinal complications. Case report: a patient came to our observation presenting recurrent epistaxis with a severe iron deficiency anaemia and hypoparathyroidism. Genetic, laboratory and imaging findings were compatible with the presence of Rendu-Osler-Weber syndrome associated to a form of idiopathic hypoparathyroidism that could find its physiopathological origin in a consequence of an autoimmune process affecting parathyroids. [ABSTRACT FROM AUTHOR]