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Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease

Kristin Samuelsson|Konstantinos Kostulas|Magnus Vrethem|Arndt Rolfs|Rayomand Press
대한신경과학회 (Korean Neurological Association)|2014.04|Journal of Clinical Neurology|제10권 제2호|pp. 108-118|DOI http://dx.doi.org/10.3988/jcn.2014.10.2.108

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키워드

Fabry diseaseetiologysmall fiber neuropathyidiopathicimpaired glucose tolerance

초록

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 causesof seemingly idiopathic SFN by applying a focused investigatory procedure, to describe theclinical phenotype of true idiopathic SFN, and to elucidate the possible prevalence of late-onsetFabry 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 andclinical investigation. The patients deemed to have true idiopathic SFN underwent geneticanalysis of the alpha-galactosidase A gene (GLA) that encodes the enzyme alpha-galactosidaseA (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%), andhereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLAwere 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 inGLA 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, idiopathicSFN in young to middle-aged Swedish patients does not seem to be due to late-onset Fabry disease.

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 causesof seemingly idiopathic SFN by applying a focused investigatory procedure, to describe theclinical phenotype of true idiopathic SFN, and to elucidate the possible prevalence of late-onsetFabry 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 andclinical investigation. The patients deemed to have true idiopathic SFN underwent geneticanalysis of the alpha-galactosidase A gene (GLA) that encodes the enzyme alpha-galactosidaseA (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%), andhereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLAwere 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 inGLA 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, idiopathicSFN in young to middle-aged Swedish patients does not seem to be due to late-onset Fabry disease.

참고문헌 (61)

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