title: Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).
abstract: BACKGROUND
  There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom.
  
  
  OBJECTIVE
  To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population.
  
  
  METHODS
  Between January 1st2005 and December 31st2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). The numerical social index value was also determined and the subjective effect of the nasal epistaxis on their quality of life was estimated classified as mild, moderate or severe.
  
  
  RESULTS
  Patients with HHT had greater problems than the general population in the five dimensions of the EuroQol 5D-3L, particularly considering pain/discomfort and anxiety/depression. In the VAS and the social index value, patients with HHT also scored lower than the general population, particularly older patients, males, and patients with HHT2. They also had values similar to those of populations with chronic illnesses. The subjective perception of the severity of epistaxis correlated strongly with the VAS and social index values.
  
  
  CONCLUSIONS
  The quality of life of patients with HHT, estimated using the EuroQol 5D-3L scale, is affected across all dimensions. The scores are similar to those seen in cases of other chronic diseases. Older patients, males and the carriers of the ACVRL1 mutation generally have worse scores on these scales. The VAS and the social index value are index that correlate well with the severity of the clinical symptoms associated mainly with epistaxis.
authors.affiliation: Department of Internal Medicine (Hospital Sierrallana) and Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER) and Instituto de Investigación Valdecilla (IDIVAL), Torrelavega, Cantabria, Spain. roberto.zarrabeitia@scsalud.es.
authors.forename: Roberto
authors.identifier: http://orcid.org/0000-0002-2904-3982
authors.initials: R
authors.lastname: Zarrabeitia
authors.affiliation: Quality Unit, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain.
authors.forename: Concepción
authors.initials: C
authors.lastname: Fariñas-Álvarez
authors.affiliation: University of Cantabria, Santander, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Santibáñez
authors.affiliation: ENT Department, Hospital Sierrallana, Torrelavega, Cantabria, Spain.
authors.forename: Blanca
authors.initials: B
authors.lastname: Señaris
authors.affiliation: Department of Genetics, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Fontalba
authors.affiliation: Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC) and Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: Luisa María
authors.initials: LM
authors.lastname: Botella
authors.affiliation: Department of Radiology, Hospital Universitario Marqués de Valdecilla and Instituto de Investigación Valdecilla (IDIVAL), Santander, Spain.
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Parra
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D004844:Epistaxis / Q000209:etiology / Q000523:psychology; D005260:Female; D006304:Health Status; D006801:Humans; D008297:Male; D008875:Middle Aged; D010147:Pain Measurement; D011788:Quality of Life; D013030:Spain; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000523:psychology*; D055815:Young Adult
keywords: Euroqol; HHT; Hereditary hemorrhagic telangiectasia; Qol; Rendu Osler