title: Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention.
abstract: Anderson Fabry Disease (AFD) is an extremely painful and debilitating multi-system X-linked disorder due to alpha-galactosidase enzyme deficiency. To date, no baseline data on health-related quality-of-life (HR-QoL) have been reported in males affected with this condition. In this study, 38 males with AFD completed Medical Outcomes Study Short Form, EuroQoL questionnaires and an AFD-specific questionnaire prior to the start of a trial involving replacement therapy with alpha-galactosidase. Results from these questionnaires were compared to the results from a similar HR-QoL study in males with severe haemophilia (factor VIII/IX deficiency) that used the same questionnaires and to the results of two large normative studies. The results on both questionnaires showed that in most instances males with AFD recorded significantly lower HR-QoL compared with males in the general population and individuals with severe haemophilia after adjusting for differences in age. These findings suggest therefore, that the scope for improvement in HR-QoL as a result of treatment with an appropriate agent is extremely large.
authors.affiliation: Royal Free Centre for HIV Medicine, Department of Primary Care and Population Sciences, London, UK. nice@nice.nhs.uk
authors.forename: A H
authors.initials: AH
authors.lastname: Miners
authors.forename: A
authors.initials: A
authors.lastname: Holmes
authors.forename: L
authors.initials: L
authors.lastname: Sherr
authors.forename: C
authors.initials: C
authors.lastname: Jenkinson
authors.forename: K D
authors.initials: KD
authors.lastname: MacDermot
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D008297:Male; D011788:Quality of Life; D018434:Sickness Impact Profile; D011795:Surveys and Questionnaires; D006113:United Kingdom; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase