Quality of Life Research

, Volume 11, Issue 2, pp 127–133 | Cite as

Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention

  • A.H. Miners
  • A. Holmes
  • L. Sherr
  • C. Jenkinson
  • K.D. MacDermot


Anderson Fabry Disease (AFD) is an extremely painful and debilitating multi-system X-linked disorder due to α-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 α-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.

Fabry Disease Health Status Quality-of-life Questionnaires 


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  1. 1.
    Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249–254.Google Scholar
  2. 2.
    Desnick RJ, Ionnou YA, Eng CH. The metabolic and molecular bases of inherited disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) ?-Galactosidase A deficiency: Fabry disease. 7th ed., New York: McGraw Hill, 1995; 2741–2784.Google Scholar
  3. 3.
    Eng CM, Guffon N, Wilcox WR, et al. and International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human a-galactosidase A-replacement therapy in Fabry's disease. New Eng J Med 2001; 345: 9–16.Google Scholar
  4. 4.
    Schiffmann R, Kopp JB, Austin HA, III, et al. Enzyme replacement therapy in fabry disease: A randomized controlled trial. JAMA 2001; 285: 2743–2749.Google Scholar
  5. 5.
    Ware JE, Sherborne CD. The MOS 36-item short-form health status survey (SF-36). 1: Conceptual framework and item selection. Med Care 1992; 30: 473–483.Google Scholar
  6. 6.
    The EuroQol Group: EuroQol-a new facility for the measurement of health related quality of life. Health Policy 1994; 16: 655–662.Google Scholar
  7. 7.
    Ware JE, Kosinski M, Keller S. SF-36 physical and mental summary scales: A user's manuel. Boston: New England Medical Center, 1994.Google Scholar
  8. 8.
    Jenkinson C, Coulter A, Wright L. Short Form (SF-36) health survey questionnaire: Normative data for adults of working age. Br Med J 1993; 306: 1437–1440.Google Scholar
  9. 9.
    Kind P, Dolan P, Gudex C, Williams A. Variations in population health status: Results from a United Kingdom national questionnaire survey. Br Med J 1998; 316: 736–741.Google Scholar
  10. 10.
    Miners AH, Sabin CA, Tolley KH, Jenkinson C, Kind P, Lee CA. Assessing health-related quality-of-life in individuals with haemophilia. Haemophilia 1999; 5: 378–385.Google Scholar
  11. 11.
    Nilsson IM, Berntorp E, Lofqvist T, Pettersson H. Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B. J Int Med 1992; 232: 25–32.Google Scholar
  12. 12.
    Jenkinson C, Zeibland S. Interpretation of data from health status measures: What do the numbers mean? O'Boyle CA, McGee H, Joyce CRB (eds), Approaches to Conceptualisation and Measurement. Reading: Harwood Academic, 1999; 75–86.Google Scholar
  13. 13.
    Jenkinson C. The SF-36 physical and mental health summary measures: An example of how to interpret scores. J Health Service Res Pol 2000; 3: 92–96.Google Scholar

Copyright information

© Kluwer Academic Publishers 2002

Authors and Affiliations

  • A.H. Miners
    • 1
  • A. Holmes
    • 2
  • L. Sherr
    • 3
  • C. Jenkinson
    • 4
  • K.D. MacDermot
    • 1
  1. 1.Department of Primary Care and Population SciencesRoyal Free Centre for HIV MedicineLondonUK
  2. 2.Department of Clinical GeneticsRoyal Free and University College Medical SchoolLondonUK
  3. 3.Department of Primary Care and Population SciencesRoyal Free and University College Medical SchoolLondonUK
  4. 4.Health Services Research Unit, Department of Public HealthUniversity of Oxford, Institute of Health SciencesHeadington, OxfordUK

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