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Depression in adults with Fabry disease: A common and under-diagnosed problem

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Summary

Background

Anderson–Fabry disease (AFD), an X-linked lysosomal storage disorder, leads to multi-organ dysfunction and premature mortality. Depression in adults with AFD has been reported, but no large study has been done. We have examined the adult Fabry population in the United Kingdom to describe the prevalence, associated factors and frequency of diagnosis of depression.

Methods

Postal questionnaires were sent from four adult clinics to 296 AFD patients. A response rate of 62% (n=184; 74 male, 110 female) formed the data set. Questionnaires collected demographic and Fabry-specific information. Depression status was assessed using the Centre for Epidemiological Studies depression scale (CES-D).

Results

Responders were aged between 18 and 76 years (mean 44). The prevalence of depression was 46%, of which 28% were consistent with ‘severe clinical depression’ Unlike the normal population, males with AFD report a higher prevalence of severe depression than females (36% males; 22% females). Interference of AFD symptoms with individuals-lives (particularly acroparaesthesiae or anhidrosis) showed the largest odds of association with depression. Relationship and financial status proved strong predictors of depression: 88% of those with mild-moderate depression and 72% with severe depression were undiagnosed.

Conclusion

Depression is common and under-diagnosed in AFD. Proper assessment of and treatment for depression could improve the quality of life of these patients.

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Authors and Affiliations

  1. Charles Dent Metabolic Unit, Box 92, The National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N3BG, UK

    A. L. Cole, P. J. Lee & R. H. Lachmann

  2. Lysosomal Storage Disorders Unit, The Royal Free Hospital, London, UK

    D. A. Hughes

  3. Lysosomal Disorders Centre, Addenbrookes Hospital, London, UK

    P. B. Deegan

  4. Department of Lysosomal Storage Disorders, Hope Hospital, Manchester, UK

    S. Waldek

Authors
  1. A. L. Cole
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  2. P. J. Lee
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  3. D. A. Hughes
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  4. P. B. Deegan
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  5. S. Waldek
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  6. R. H. Lachmann
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Corresponding author

Correspondence to A. L. Cole.

Additional information

Communicating editor: Joe Clarke

Competing interests: None declared

References to electronic databases: Anderson–Fabry disease: OMIM 301500. α-Galactosidase A: EC 3.2.1.22)

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Questionnaire One: Background information

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Cole, A.L., Lee, P.J., Hughes, D.A. et al. Depression in adults with Fabry disease: A common and under-diagnosed problem. J Inherit Metab Dis 30, 943–951 (2007). https://doi.org/10.1007/s10545-007-0708-6

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  • DOI: https://doi.org/10.1007/s10545-007-0708-6

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