Treatment of Depression in Adults with Fabry Disease

  • Nadia AliEmail author
  • Scott Gillespie
  • Dawn Laney
Research Report
Part of the JIMD Reports book series (JIMD, volume 38)


Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic. Subjects completed 6 months of in-person or telecounseling with the same health psychologist, followed by 6 months without counseling. Self-report measures of depression, AF, QOL, and subjective pain were completed every 3 months. All subjects experienced improvements in depression, which were sustained during the follow-up period. Improvements in depression were correlated with improvements in mental health QOL and subjective pain severity, while improvements in mental health QOL were correlated with improvements in AF. While statistical comparison between counseling modes was not possible with the given sample size, relevant observations were noted. Recommendations for future research include replication of results with a larger sample size and a longer counseling period. The use of video counseling may be beneficial. In conclusion, the present pilot study supports the efficacy of psychological treatment for depression in people with FD, highlighting the importance of having health psychologists housed in LSD treatment centers, rather than specialty psychology/psychiatry settings, to increase participation and decrease potential obstacles to access due to perceived stigma.


Adaptive functioning Depression Fabry Quality of life Telecounseling 



The authors thank all the individuals with Fabry disease who participated in this study.

This study was supported by Shire Pharmaceuticals and by the National Center for Advancing Translational Sciences of the National Institutes of Health under Award Number UL1TR000454. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Supplementary material

464154_1_En_21_MOESM1_ESM.docx (416 kb)
Supplementary Table 1 Partial Pearson correlations, adjusted for treatment arm, across all study measures (DOCX 17 kb)
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Supplementary Table 2 Exact, Wilcoxon signed-rank tests comparing depression response scores at 6, 9, and 12 months versus baseline and 6 months (DOCX 16 kb)
464154_1_En_21_MOESM3_ESM.docx (416 kb)
Supplementary Figure 1 Measure spaghetti plots by participants and treatment arm (DOCX 412 kb)


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of Human GeneticsEmory University School of MedicineAtlantaUSA
  2. 2.Department of PediatricsEmory University School of MedicineAtlantaUSA

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