Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
2014 (English)In: Journal of Clinical Neurology, ISSN 1738-6586, Vol. 10, no 2, 108-118 p.Article in journal (Refereed) Published
Background and Purpose
The etiology of small fiber neuropathy (SFN) often remains unclear. Since SFN may be the only symptom of late-onset Fabry disease, it may be underdiagnosed in patients with idiopathic polyneuropathy. We aimed to uncover the etiological causes of seemingly idiopathic SFN by applying a focused investigatory procedure, to describe the clinical phenotype of true idiopathic SFN, and to elucidate the possible prevalence of late-onset Fabry disease in these patients.
Forty-seven adults younger than 60 years with seemingly idiopathic pure or predominantly small fiber sensory neuropathy underwent a standardized focused etiological and clinical investigation. The patients deemed to have true idiopathic SFN underwent genetic analysis of the alpha-galactosidase A gene (GLA) that encodes the enzyme alpha-galactosidase A (Fabry disease).
The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLA were detected in 6 of the 29 patients with true idiopathic SFN, but this rate did not differ significantly from that in healthy controls (n=203). None of the patients with genetic alterations in GLA had significant biochemical abnormalities simultaneously in blood, urine, and skin tissue.
A focused investigation may aid in uncovering further etiological factors in patients with seemingly idiopathic SFN, such as impaired glucose tolerance. However, idiopathic SFN in young to middle-aged Swedish patients does not seem to be due to late-onset Fabry disease.
Place, publisher, year, edition, pages
Korean Neurological Association , 2014. Vol. 10, no 2, 108-118 p.
etiology; Fabry disease; idiopathic; impaired glucose tolerance; small fiber neuropathy
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-106282DOI: 10.3988/jcn.2014.10.2.108ISI: 000333775100005OAI: oai:DiVA.org:liu-106282DiVA: diva2:715755