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Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
- Source :
- Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-3 (2020), Orphanet Journal of Rare Diseases
- Publication Year :
- 2020
- Publisher :
- BMC, 2020.
-
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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 15
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases
- Accession number :
- edsair.doi.dedup.....11673b94e3d6c8fe522306a6b9dbf6fe