Small fiber neuropathy in Fabry disease

Marieke Biegstraaten*, Carla E. M. Hollak, Mayienne Bakkers, Catharina G. Faber, Johannes M. F. G. Aerts, Ivo N. van Schaik

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Previous studies have explicitly shown that small nerve fibers are affected in Fabry disease which is assumed to cause the severe neuropathic pain that patients may have from childhood on. Neuropathic pain and small fiber neuropathy characteristics have therefore been considered as appropriate study endpoints in studies on the efficacy of enzyme replacement therapy. However, the relationship between small fiber neuropathy characteristics and pain, as well as the course of small fiber neuropathy in Fabry disease is still uncertain. In this article a comprehensive overview of the existing literature on small nerve fiber function and structure and the relationship with pain, age and disease severity is presented supplemented with data from the Dutch Fabry cohort, with the aim to identify consensus as well as controversies and to propose a hypothesis on the evolution of neuropathy in Fabry disease.
Original languageEnglish
Pages (from-to)135-141
JournalMolecular Genetics and Metabolism
Issue number2
Publication statusPublished - Jun 2012


  • Fabry disease
  • Small fiber neuropathy

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