Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
Journal of Clinical Neurology 2014³â 10±Ç 2È£ p.108 ~ p.118
(Samuelsson Kristin) - Karolinska University Hospital Huddinge Karolinska Institutet Department of Clinical Neuroscience
(Kostulas Konstantinos) - Karolinska University Hospital Huddinge Karolinska Institutet Department of Clinical Neuroscience
(Vrethem Magnus) - Linkoping University Faculty of Health Sciences Department of Clinical and Experimental Medicine
(Rolfs Arndt) - University of Rostock Albrecht-Kossel Institute for Neuroregeneration
(Press Rayomand) - Karolinska University Hospital Huddinge Karolinska Institutet Department of Clinical Neuroscience
Abstract
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.
Methods: 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).
Results: 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.
Conclusions: 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.
Å°¿öµå
etiology, Fabry disease, idiopathic, impaired glucose tolerance, small fiber neuropathy
KMID :
1130620140100020108
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