Quality of Life Research

, Volume 11, Issue 4, pp 317–327 | Cite as

Quality of life of patients with Fabry disease

  • K.F. Gold
  • G.M. Pastores
  • M.F. Botteman
  • J.M. Yeh
  • S. Sweeney
  • W. Aliski
  • C.L. Pashos
Article

Abstract

This paper is the first of its kind to study the impact of Fabry disease (FD) in affected males, and shows that FD is associated with a significant decline in several domains. Using the medical outcomes study (MOS) SF-36 and a FD-specific questionnaire, we compared the observations found among these patients with that obtained for the general US population and other chronic disease states, including Gaucher disease (GD) (another lysosomal storage disorder), end-stage renal disease, stoke and AIDS. Patients with FD have a score profile most similar to patients with AIDS. In comparison with patients with GD, Fabry patients score substantially lower across all domains. Using simple linear regression, potential predictors of health-related quality of life (HRQOL) for Fabry patients were also determined. As in the general population, stroke, cardiac problems and renal disease lead to substantial decrement in HRQOL. In addition, two disease specific symptoms (acroparesthesia and anhidrosis) and pain are also predictors of decreased quality of life. Currently, no specific therapy for FD exists. As enzyme therapy for FD becomes increasingly available, it will be interesting to evaluate the therapy's impact on the quality of life of patients.

Fabry disease Health-related quality of life SF-36 health survey 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA 2000; 284(21): 2771–2775.Google Scholar
  2. 2.
    Schiffmann R, Kopp JB, Austin HA III, et al. Enzyme replacement therapy in fabry disease: A randomized controlled trial. JAMA 2001; 285(21): 2743–2749.Google Scholar
  3. 3.
    Stewart AL, Greenfield S, Hayes RD. Functional status and well-being of patients with chronic conditions. Results from the Medical Outcomes Study. JAMA 1989; 262(7): 907–913.Google Scholar
  4. 4.
    Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res 1999; 8: 263–268.Google Scholar
  5. 5.
    Diaz-Buxo JA, Lowrie EG, Lew NL, Zhang H, Lazarus JM. Quality-of-life evaluation using short form 36: Comparison of hemodialysis and peritoneal dialysis patients. Am J Kidney Dis 2000; 35(2): 293–300.Google Scholar
  6. 6.
    Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996; 40(1): 8–17.Google Scholar
  7. 7.
    McEwen S, Mayo N, Wood-Dauphinee S. Inferring quality of life from performance-based assessments. Disabil Rehabil 2000; 22(10): 456–463.Google Scholar
  8. 8.
    Anderson JP, Kaplan RM, Coons SJ, Schneiderman LJ. Comparison of the quality of well-being scale and the SF-36 results among two samples of ill adults: AIDS and other illnesses. J Clin Epidemiol 1998; 51(9): 755–762.Google Scholar
  9. 9.
    Ware JE Jr. SF-36 Health Survey: Manual and Interpretation Guide. Boston, MA: The Health Institute, New England Medical Center, 1993.Google Scholar
  10. 10.
    Ware JE Jr., Sherbourne CD. The MOS 36-item short-form health survey (SF-36). Conceptual framework and item selection. Med Care 1992; 30(6): 473–483.Google Scholar
  11. 11.
    Jacoby A, Baker GA, Steen N, Buck D. The SF-36 as a health status measure for epilepsy: A psychometric assessment. Qual Life Res 1999; 8(4): 351–364.Google Scholar
  12. 12.
    Ruta DA, Hurst NP, Kind P, Hunter M, Stubbings A. Measuring health status in British patients with rheumatoid arthritis: Reliability, validity and responsiveness of the short form 36-item health survey (SF-36). Brit J Rheumatol 1998; 37(4): 425–436.Google Scholar
  13. 13.
    Cohen J. Statistical Power Analysis for Behavioral Sciences. 2nd ed. New Jersey: Lawrence Erlbaum Associates, Inc., 1988.Google Scholar
  14. 14.
    Bing EG, Hays RD, Jacobson LP, et al. Health-related quality of life among people with HIV disease: Results from the Multicenter AIDS Cohort Study. Qual Life Res 2000; 9(1): 55–63.Google Scholar
  15. 15.
    Carod-Artal J, Egido JA, Gonzalez JL, Varela De Seijas E. Quality of life among stroke survivors evaluated 1 year after stroke: Experience of a stroke unit. Stroke 2000; 31(12): 2995–3000.Google Scholar
  16. 16.
    Damiano AM, Pastores GM, Ware JE. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: Results from a retrospective study. Qual Life Res 1998; 7: 373–386.Google Scholar
  17. 17.
    Hayes RP, Grinzaid KA, Duffey EB, Elsas LJ. The impact of Gaucher disease and its treatment on quality of life. Qual Life Res 1998; 7(6): 521–534.Google Scholar
  18. 18.
    Kim P, Warren S, Madill H, Hadley M. Quality of life of stroke survivors. Qual Life Res 1999; 8(4): 293–301.Google Scholar
  19. 19.
    King RB. Quality of life after stroke. Stroke 1996; 27(9): 1467–1472.Google Scholar
  20. 20.
    Martinez TY, Pereira CA, dos Santos ML, Ciconelli RM, Guimaraes SM, Martinez JA. Evaluation of the short-form 36-item questionnaire to measure health-related quality of life in patients with idiopathic pulmonary fibrosis. Chest 2000; 117(6): 1627–1632.Google Scholar
  21. 21.
    Tsakiris D. Morbidity and mortality reduction associated with the use of erythropoietin. Nephron 2000; 85(Suppl 1): 2–8.Google Scholar
  22. 22.
    Testa MA, Simonson DC. Assessment of quality-of-life outcomes. New Engl J Med 1996; 334(13): 835–840.Google Scholar
  23. 23.
    Tsasis P. Health-related quality-of-life measurements in HIV/AIDS care. AIDS Patient Care ST 2000; 14(8): 427–438.Google Scholar
  24. 24.
    Vale L, Donaldson C, Daly C, et al. Evidence-based medicine and health economics: A case study of end stage renal disease. Health Econ 2000; 9(4): 337–351.Google Scholar
  25. 25.
    Weinfurt KP, Willke RJ, Glick HA, Freimuth WW, Schulman KA. Relationship between CD4 count, viral burden, and quality of life over time in HIV-1-infected patients. Med Care 2000; 38(4): 404–410.Google Scholar

Copyright information

© Kluwer Academic Publishers 2002

Authors and Affiliations

  • K.F. Gold
    • 1
  • G.M. Pastores
    • 2
  • M.F. Botteman
    • 1
  • J.M. Yeh
    • 1
  • S. Sweeney
    • 1
  • W. Aliski
    • 3
  • C.L. Pashos
    • 1
  1. 1.Abt Associates Clinical TrialsBethesdaUSA
  2. 2.New York University School of MedicineNew YorkUSA
  3. 3.Transkaryotic Therapies IncCambridgeUSA

Personalised recommendations