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Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
  1. B Hoffmann1,
  2. A Garcia de Lorenzo2,
  3. A Mehta3,
  4. M Beck4,
  5. U Widmer5,
  6. R Ricci6,
  7. on behalf of the FOS European Investigators
  1. 1University Children’s Hospital, Heinrich Heine University, Düsseldorf, Germany
  2. 2Hospital Universitario, La Paz, Madrid, Spain
  3. 3University College London, London, UK
  4. 4University of Mainz, Mainz, Germany
  5. 5University of Zurich, Zurich, Switzerland
  6. 6Institute of Clinical Pediatrics, UCSC, Rome, Italy
  1. Correspondence to:
 Dr B Hoffmann
 Department for General Pediatrics, University Children’s Hospital, Heinrich Heine University Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany;


Background: Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all tissues, including the blood vessels, kidney, myocardium, and nervous system. Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites.

Aims: This study set out to evaluate pain and its influence on quality of life in patients with Fabry disease receiving enzyme replacement therapy (ERT) with agalsidase alfa.

Methods: Data were obtained from the Fabry Outcome Survey. Pain was measured using the Brief Pain Inventory (BPI), and health-related quality of life (HRQoL) was documented with the European Quality of Life Questionnaire (EQ-5D).

Results: The mean (SD) score for “pain at its worst” on the BPI prior to ERT was 5.1 (2.7). One year after commencement of ERT, this had improved by 0.5, and improved by a further 0.6 after 2 years (p<0.05). Similar statistically significant improvements were seen for “pain on average” and “pain now” after 2 years of ERT. The mean HRQoL utility score prior to ERT was 0.66 (0.32). After 12 months of treatment with agalsidase alfa, this had improved to 0.74 (0.26; p<0.05); this improvement was maintained after 2 years.

Conclusions: ERT with agalsidase alfa significantly reduces pain and improves quality of life in patients with Fabry disease.

  • BPI, Brief Pain Inventory
  • ERT, enzyme replacement therapy
  • EQ-5D, European Quality of Life Questionnaire
  • FOS, Fabry Outcome Survey
  • HRQoL, health related quality of life
  • QoL, quality of life
  • WHO, World Health Organization
  • Fabry Outcome Survey
  • Fabry disease
  • agalsidase alfa
  • health-related quality of life
  • pain

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  • The FOS database is under the independent control of the FOS European board. Data collection and analysis in FOS are supported by TKT Europe–5S, Danderyd, Sweden. The sponsor had no role in the interpretation of data or writing of this report.

  • Competing interests: none declared