April - June 2011, Volume 7, Issue 2

Cesareo R, Iozzino M, De Rosa B, Isgro MA, Di Stasio E

A Rare Case of Hypoparathyroidism Associated to Rendu-Osler-Webber Syndrome

Acta Endo (Buc) 2011, 7 (2): 267-272
doi: 10.4183/aeb.2011.267

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\r\narteriovenous 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.\r\nCase 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\r\nparathyroids.

Keywords: Rendu-Osler-Weber syndrome, hypoparathyroidism

Correspondence: Enrico Di Stasio, Universit? Cattolica del Sacro Cuore - Istituto di Biochimica e Biochimica Clinica Largo F. Vito 1 , Rome 00168, Italy. Email: e.distasio@rm.unicatt.it