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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number216
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - Aug 20 2020


  • Axonal
  • Fabry disease
  • Lysosomal disorder
  • Neuropathy
  • Polyneuropathy
  • Screening

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)


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