title: Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease.
abstract: The levels of the health-related quality of life (HR-QoL) were analyzed in hereditary hemorrhagic telangiectasia (HHT) patients. The Short Form-36 Health Survey (SF-36) was administered to 50 HHT patients and scores were compared to a cohort of 2301 normal subjects. Clinical variables were patient age, illness duration, number of epistaxis episodes in the previous year and hemoglobin levels. Physical functioning, physical role limitations, bodily pain, social functioning, emotional role limitations and the physical component scores were lower among females. In multivariable analyses increasing age was related to lower physical functioning (p < 0.04), physical role limitations (p < 0.008), bodily pain (p < 0.05) and emotional role limitations (p < 0.01), while higher hemoglobin levels improved physical functioning (p < 0.03). The number of epistaxis episodes was negatively associated with physical role limitations (p < 0.009), vitality (p < 0.002), social functioning (p < 0.001), physical component summary (p < 0.001) and bodily pain (p < 0.01). Illness duration was negatively related to the mental component summary (p < 0.004). HHT patients had a lower HR-QoL with respect to normal controls in all domains except for bodily pain. Females had lower scores for several domains. Epistaxis was the most important clinical variable.
authors.affiliation: University Interdepartmental Research Centre for Rendu-Osler-Weber Disease, Chair of Emergency Medicine, HHT Centre, University of Bari, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Pasculli
authors.forename: Francesco
authors.initials: F
authors.lastname: Resta
authors.forename: Edoardo
authors.initials: E
authors.lastname: Guastamacchia
authors.forename: Leonardo
authors.initials: L
authors.lastname: Di Gennaro
authors.forename: Patrizia
authors.initials: P
authors.lastname: Suppressa
authors.forename: Carlo
authors.initials: C
authors.lastname: Sabbà
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006305:Health Status Indicators; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D035583:Rare Diseases; D012044:Regression Analysis; D018709:Statistics, Nonparametric; D011795:Surveys and Questionnaires; D013683:Telangiectasia, Hereditary Hemorrhagic