Epidemiología de la Telangiectasia hemorrágica hereditaria en Españaexperiencia de la unidad especializada del hospital Sierrallana (2003-2013)

  1. Zarrabeitia Puente, Roberto
Supervised by:
  1. José Antonio Parra Blanco Director
  2. María del Carmen Fariñas Álvarez Director

Defence university: Universidad de Cantabria

Fecha de defensa: 15 December 2015

Committee:
  1. Rosario Esteban Casado Chair
  2. Luisa Maria Botella Cubells Secretary
  3. Carmelo Morales Angulo Committee member

Type: Thesis

Teseo: 397408 DIALNET lock_openUCrea editor

Abstract

Hereditary haemorrhagic telangiectasia (HHT) or Rendu Osler is a rare underdiagnosed genetic disorder with dominant inheritance pattern and characterized by the presence of epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs. The aim of the study is to describe the epidemiological and genetic features, the clinical, radiological, laboratory and capilaroscopy findings, and to evaluate the impact of the disease on the health related quality of life on a sample of 667 patients that attended the specialized unit in Hospital Sierrallana (the unique recognized by the HHT Foundation Int.) from all over the national territory from 2003 to 2013. Moreover, an interventional study with bacedoxifene administered to a selected sample of menopausic women with HHT was performed, evaluating efficacy regarding epistaxis, security and effect on the quality of life of the patients and supplemented with an analisys of its potential molecular effects.