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Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuroscience. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Local Health Care Services in Central Östergötland, Department of Neurology.
University of Rostock, Germany .
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2014 (English)In: Journal of Clinical Neurology, ISSN 1738-6586, Vol. 10, no 2, 108-118 p.Article in journal (Refereed) Published
Abstract [en]

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.
Keyword [en]
etiology; Fabry disease; idiopathic; impaired glucose tolerance; small fiber neuropathy
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-106282DOI: 10.3988/jcn.2014.10.2.108ISI: 000333775100005OAI: diva2:715755
Available from: 2014-05-06 Created: 2014-05-05 Last updated: 2014-10-29Bibliographically approved

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Vrethem, Magnus
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