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[Hereditary hemorrhagic telangiectasia at an internal medicine service: study of 12 patients].

Hereditary hemorrhagic telangiectasia (HHT) is a hereditary dominant autosoma clinical entity characterized by repeated hemorrhages (being epistaxis the more frequent) and telangiectasia in skin, mucosa and internal organs. Incidence in Europe is 1,2 per 100,000 pop. We discuss the experience of an Internal Medicine Department (Arnau de Vilanova Hospital), during 10 years, in which 12 patients were diagnosed. With the aim to provide more information about this rare disease. There was no predominant sex and the age of onset was very variable. All patients referred at admission past history of hemorrhages (either the patient him/herself or some relative), or were suffering it at admission. Except one patient, all of them showed telangiectasias in skin and mucosa. In five of them telangiectaias were found in upper gastrointestinal tract, in two there were localized on the tracheobronchial tree and one patient had teleangiectasia in liver. Three patients were diagnosed of pulmonary arteriovenous fistula (PAVF). The clinical, diagnostic and therapeutic aspects of this disease are reviewed.