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Cognitive dysfunction and depression in Fabry disease: a systematic review

  • Review
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Background

Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. However, the prevalence and pattern of associated cognitive dysfunction is not well understood.

Objectives

To investigate whether there is reliable evidence for neuropsychological impairment in patients with Fabry disease and which cognitive domains are affected. To estimate the prevalence of and factors associated with depression in patients with Fabry disease.

Method

Qualitative systematic review of the literature of studies conducting neuropsychological assessment or measuring the prevalence of depression in adults with Fabry disease using the preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines where appropriate.

Results

There is some evidence for neuropsychological impairment in Fabry disease in executive functioning, information processing speed and attention, with preservation of: general intellectual functioning, memory, naming, perceptual functioning and global cognitive functioning. Prevalence rates of depression in Fabry disease ranged from 15 % to 62 %, with the largest study to date reporting a prevalence rate of 46 %. The most common factor associated with depression was neuropathic pain, both directly and indirectly by affecting social and adaptive functioning.

Conclusion

Our review suggests that Fabry disease may be associated with a characteristic pattern of cognitive deficits and a high prevalence of psychological disorders such as depression but highlights the limited available data. Exploring the nature of cognitive impairment in Fabry disease using standardised neuropsychological assessment, brain imaging and measures of depression is an important task for future research.

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Conflict of interest

Fay Bolsover has been supported by an educational grant from Shire Pharmaceuticals.

Elaine Murphy has received educational grants and honoraria from Shire Pharmaceuticals and Genzyme.

Lisa Cipolotti declares that she has no conflict of interest.

David Werring receives research support from the Stroke Association and the British Heart Foundation. Part of this work was undertaken at UCLH/UCL who received a proportion of funding from the Department of Health’s NIHR Biomedical Research Centres funding scheme.

Robin Lachmann has received educational grants and honoraria from Shire Pharmaceuticals and Genzyme.

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Authors and Affiliations

  1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 8-11 Queen Square, Internal Mailbox 92, London, WC1N 3BG, UK

    Fay E. Bolsover, Elaine Murphy & Robin H. Lachmann

  2. Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK

    Lisa Cipolotti

  3. Stroke Research Group, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK

    David J. Werring

Authors
  1. Fay E. Bolsover
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  2. Elaine Murphy
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  3. Lisa Cipolotti
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  4. David J. Werring
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  5. Robin H. Lachmann
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Corresponding author

Correspondence to Robin H. Lachmann.

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Communicated by: Carla E. Hollak

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Bolsover, F.E., Murphy, E., Cipolotti, L. et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis 37, 177–187 (2014). https://doi.org/10.1007/s10545-013-9643-x

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  • DOI: https://doi.org/10.1007/s10545-013-9643-x

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