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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
Article

Abstract

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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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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