Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question! | Orphanet Journal of Rare Diseases | Full Text

Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question! | Orphanet Journal of Rare Diseases | Full Text

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 

Orphanet Journal of Rare Diseases volume 15, Article number: 216 (2020) Cite this article

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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.