Orphanet Journal of Rare Diseases (Aug 2020)

Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!

  • Eugenia Rota,
  • Marina Grandis,
  • Alessia Di Sapio,
  • Elisabetta Ghiglione,
  • Pietro Fiorentino,
  • Alessandra Repetto,
  • Claudia Giliberto,
  • Chiara Gemelli,
  • Nicola Morelli,
  • Angelo Schenone,
  • Dario Cocito

DOI
https://doi.org/10.1186/s13023-020-01501-w
Journal volume & issue
Vol. 15, no. 1
pp. 1 – 3

Abstract

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Abstract Fabry disease (FD) is a systemic X-linked lysosomal disorder. A ‘peripheral nerve variant’ of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetiology and demyelinating neuropathy, unresponsive to immunomodulating treatment, were screened for FD. A total of 103 patients (64% males), were enrolled. No typical pathogenetic mutations for FD were identified. We are aware that the study sample was very small, but only a large, unfeasible theoretical sample size could demonstrate a statistically significant increased prevalence of FD in neuropathy patients, as peripheral neuropathy of undetermined cause is uncommon and there is a low prevalence of FD in the general population. Therefore, we are of the opinion that including tailored FD screening in the neuropathy diagnostic work-up, particularly when there are additional clinical characteristics, should be considered.

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