1. Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
- Author
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Angelo Schenone, Dario Cocito, Eugenia Rota, Nicola Morelli, Alessia Di Sapio, Elisabetta Ghiglione, Alessandra Repetto, Chiara Gemelli, Pietro Fiorentino, Claudia Giliberto, and Marina Grandis
- Subjects
Male ,0301 basic medicine ,Lysosomal disorder ,medicine.medical_specialty ,Population ,lcsh:Medicine ,030105 genetics & heredity ,Gastroenterology ,Axonal polyneuropathy ,Polyneuropathies ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Polyneuropathy ,medicine ,Humans ,Mass Screening ,Pharmacology (medical) ,Peripheral Nerves ,education ,Letter to the Editor ,Genetics (clinical) ,education.field_of_study ,Fabry disease ,business.industry ,lcsh:R ,Peripheral Nervous System Diseases ,General Medicine ,medicine.disease ,Chronic Polyneuropathy ,Neuropathy ,Peripheral neuropathy ,Cohort ,Etiology ,Screening ,Female ,Axonal ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2020