The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients

  • Alexandra Ivleva
  • Ekaterina Weith
  • Atul Mehta
  • Derralynn A. HughesEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 41)


Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. Patients with milder, later onset of disease often have a delay in diagnosis.

Fabry patients may suffer significant neuropathic pain in the extremities (acroparasthesia) but the degree to which musculoskeletal symptoms contribute to total pain and disability is unknown. Here, we present a questionnaire study focusing on joint manifestations and their impact on daily life of patients with Fabry disease.

Seventy-seven patients with Fabry disease and age-matched healthy controls (49 female and 28 male) took part in a survey focused on joint problems, pain, disability, and quality of life. Joint pain and swelling were reported by 43% of male and 39% of female Fabry patients. Analysis by age group showed higher prevalence of joint problems and decreased quality of life, in terms of mobility, activity, pain, and anxiety, in Fabry patients younger than 50 years compared to healthy controls. Female Fabry patients had higher fatigue scores compared to control subjects. Fabry patients reported problems with vigorous daily activities and gripping.

Musculoskeletal symptoms are common in Fabry patients and contribute to overall pain and decreased quality of life. Awareness of Fabry disease by physicians may be raised to ensure timely diagnosis of this rare disease.


Fabry disease Joints manifestations Lysosomal storage disorder Multidisciplinary team-care Musculoskeletal symptoms Patient-reported outcomes 



We are thankful to the patients and control subjects for participation in the survey. The authors acknowledge Royal Free Hospital Research Nurses Capt. Alan Milligan and Mrs. Linda Richfield for their help in patients study enrolment and work with patient records; as well as Mr. Andrew Burgess for critical review on statistical evaluations.

Supplementary material (94 kb)
Fig. S1 Scatterplots of fatigue scores for Fabry patients and healthy controls. Upper graph displays data on females, lower graph on males (TIFF 114 kb)
472895_1_En_84_MOESM2_ESM.docx (18 kb)
Response to Reveiwers Comments R2 (DOCX 17 kb)


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Alexandra Ivleva
    • 1
  • Ekaterina Weith
    • 2
  • Atul Mehta
    • 3
    • 4
  • Derralynn A. Hughes
    • 3
    • 4
    • 5
    Email author
  1. 1.Welsh School of PharmacyCardiff UniversityCardiffUK
  2. 2.Independent ResearcherBerlinGermany
  3. 3.Lysosomal Storage Disorders UnitLondonUK
  4. 4.Royal Free London NHS Foundation TrustLondonUK
  5. 5.University College LondonLondonUK

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