title: Quality of life in patients with Fabry disease: a systematic review of the literature.
abstract: Fabry disease (FD), caused by deficiency of the lysosomal enzyme α-galactosidase-A, is a progressive multisystem disease. The disease is X-linked with generally more severe manifestations in males, but can impact on quality of life (QoL) of both male and female patients. The purpose of this literature review is to analyse the currently available data concerning QoL measurement, specifically which questionnaires have been used to measure QoL, how patients with FD score compared to the general population, and the effects of enzyme replacement therapy (ERT) on QoL. Fifty-four articles were relevant for this literature review. Patients with FD had a lower QoL compared to the general population. No definite conclusions could be drawn from the studies on the effect of ERT on QoL; natural history data is scarce, changes observed were limited and the cohorts were of small size. We propose that a FD specific questionnaire be made to accurately assess QoL in patients with FD.
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. m.arends@amc.uva.nl.
authors.forename: Maarten
authors.initials: M
authors.lastname: Arends
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. c.e.hollak@amc.uva.nl.
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. m.biegstraaten@amc.uva.nl.
authors.forename: Marieke
authors.initials: M
authors.lastname: Biegstraaten
mesh_terms: D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D011788:Quality of Life; D011795:Surveys and Questionnaires