Quality of life among polish Fabry patients - a cross-sectional study quality of life among polish Fabry patients

• Authors: Wioletta Żuraw , Dominik Golicki , Agnieszka Jurecka , Anna Tylki-Szymańska
• Languages of publication: EN

Abstracts

EN

This study sought to explore the following issues 1) health-related quality of life (HRQoL) in Fabry patients relative to the general population 2) the quality of life (QoL) level in heterozygous females as compared to hemizygous males and the general population. A prospective, cross-sectional study was performed in patients diagnosed with Fabry disease in Poland (n=33). HRQoL was assessed with two generic questionnaires: the Medical Outcomes Study Short Form-36 (SF-36) and EuroQol questionnaire (EQ-5D), which includes the EQ-5D descriptive system and the EQ-visual analogue scale (EQ VAS), as well as a disease-specific author’s questionnaire. When measured with EQ-VAS, the subjective perception of health status was significantly lower in Fabry patients than that of the general population. SF-36 norm-based scores showed that patients are disadvantaged mainly in social functioning, bodily pain, and mental health. Objective assessments of HRQoL according to the EQ-5D Index tend to be lower for males than for females. Only male patients experienced extreme problems identified by the EQ-5D descriptive system. HRQoL of Fabry patients, measured by EQ-5D and SF-36, is lower as compared with that of the general population. Fabry disease effects QoL in its physical, mental and social dimensions.

Keywords

EN

Fabry disease; Quality of life; SF-36; EQ-5D

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2011
• Volume: 6
• Issue: 6
• Pages: 741-749

Dates

published

1 - 12 - 2011

online

8 - 10 - 2011

Contributors

author

Wioletta Żuraw

• Department of Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland

author

Dominik Golicki

• Department of Pharmacoeconomics, Medical University of Warsaw, ul. Pawińskiego 3A, 02106, Warsaw, Poland

author

Agnieszka Jurecka

author

Anna Tylki-Szymańska

• Department of Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland

References

• [1] Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase Deficiency; Fabry Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds). The Metabolic & Molecular Bases of Inherited Disease, New York, The McGraw-Hill Companies Inc., 2001:3733–3774
• [2] Gold KF, Pastores GM, Botteman MF, Yeh JM, Sweeney S, Aliski W, Pashos CL. Quality of life of patients with Fabry disease. Qual Life Res 2002; 11: 317–327 http://dx.doi.org/10.1023/A:1015511908710[Crossref]
• [3] Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP. Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93: 112–128 http://dx.doi.org/10.1016/j.ymgme.2007.09.013[WoS][Crossref]
• [4] Bryant D, Schunemann H, Brozek J, et al. Patient reported outcomes: general principles of development and interpretability. Pol Arch Med Wewn. 2007; 117: 125–131
• [5] Schiffmann R. Enzyme Replacement in Fabry Disease: The Essence Is in the Kidney. Ann Intern Med 2007; 146; 142–144 [Crossref]
• [6] Patrick DL, Deyo RA. Generic and disease-specific measures in assessing health status and quality of life. Med Care 1989; 27: S217–232 http://dx.doi.org/10.1097/00005650-198903001-00018[Crossref]
• [7] The Euroqol Group. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy 1990; 16: 199–208 http://dx.doi.org/10.1016/0168-8510(90)90421-9[Crossref]
• [8] Golicki D, Niewada M, Jakubczyk M, Wrona W, Hermanowski T. Self-assessed health status in Poland: EQ-5D findings from the Polish valuation study. Pol Arch Med Wewn. 2010; 120: 276–281
• [9] Golicki D, Jakubczyk M, Niewada M, Wrona W, Busschbach JJ. Valuation of EQ-5D Health States in Poland: First TTO-Based Social Value Set in Central and Eastern Europe. Value Health 2010; 13: 289–297 http://dx.doi.org/10.1111/j.1524-4733.2009.00596.x[Crossref]
• [10] McHorney CA, Ware JE, Lu JF, Sherbourne CD. The MOS 36-item Short-Form Health Survey (SF-36): III. Tests of data quality, scaling assumptions, and reliability across diverse patient groups. Med Care 1994; 32: 40–66 http://dx.doi.org/10.1097/00005650-199401000-00004[Crossref]
• [11] Sullivan M, Karlsson J, Ware JE. The Swedish SF-36 Health Survey - I. Evaluation of data quality, scaling assumptions, reliability and construct validity across general populations in Sweden. Soc Sci Med 1995; 41: 1349–1358 http://dx.doi.org/10.1016/0277-9536(95)00125-Q[Crossref]
• [12] Ware JE, Kosinski M. SF-36 Physical and Mental Health Summary Scales. In: Lincoln RI, editor. A Manual for Users of Version 1, QualityMetric Inc, 2001
• [13] StatsDirect Ltd. StatsDirect statistical software. http://www.statsdirect.com. England: StatsDirect Ltd. 2008
• [14] Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 2007; 9: 34–45 http://dx.doi.org/10.1097/GIM.0b013e31802d8321[WoS][Crossref]
• [15] Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R. FOS European Investigators. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet. 2005; 42: 247–252 http://dx.doi.org/10.1136/jmg.2004.025791[Crossref]
• [16] Watt T, Burlina AP, Cazzorla C, Schönfeld D, Banikazemi M, Hopkin RJ, Martins AM, Sims K, Beitner-Johnson D, O’Brien F, Feldt-Rasmussen U. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med 2010; 12: 703–712 [WoS][Crossref]
• [17] Beck M, Ricci R, Widmer U, Dehout F, de Lorenzo AG, Kampmann C, Linhart A, Sunder-Plassmann G, Houge G, Ramaswami U, Gal A, Mehta A. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 2004; 34: 838–844 http://dx.doi.org/10.1111/j.1365-2362.2004.01424.x[Crossref]
• [18] Hoffmann B, de Lorenzo AG, Mehta A, Beck M, Widmer U, Ricci R. FOS European Investigators. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005; 42: 247–252 http://dx.doi.org/10.1136/jmg.2004.025791[Crossref]
• [19] Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT. Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet 2009; 374: 1986–1996 http://dx.doi.org/10.1016/S0140-6736(09)61493-8[WoS][Crossref]
• [20] Hoffmann B, Schwarz M, Mehta A, Keshav S. On behalf of the Fabry Outcome Survey European Investigators: Gastrointestinal Symptoms in 342 Patients With Fabry Disease: Prevalence and Response to Enzyme Replacement Therapy. Clin Gastrol Hepatol 2007; 5: 1447–1453 http://dx.doi.org/10.1016/j.cgh.2007.08.012[Crossref]
• [21] Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual Life Res 2002; 11: 127–133 http://dx.doi.org/10.1023/A:1015009210639[Crossref]
• [22] Wille N, Badia X, Bonsel G, Burström K, Cavrini G, Devlin N, Egmar AC, Greiner W, Gusi N, Herdman M, Jelsma J, Kind P, Scalone L, Ravens-Sieberer U. Development of the EQ-5D-Y: a child-friendly version of the EQ-5D. Qual Life Res 2010 Apr 20. [Epub ahead of print] [Crossref][WoS]
• [23] Ravens-Sieberer U, Wille N, Badia X, Bonsel G, Burström K, Cavrini G, Devlin N, Egmar AC, Gusi N, Herdman M, Jelsma J, Kind P, Olivares PR, Scalone L, Greiner W. Feasibility, reliability, and validity of the EQ-5D-Y: results from a multinational study. Qual Life Res 2010 Apr 17. [Epub ahead of print] [Crossref]

Identifiers

DOI

10.2478/s11536-011-0087-0