Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
Journal of Clinical Neurology
; : 108-118, 2014.
Article
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| WPRIM
| ID: wpr-84614
Biblioteca responsável:
WPRO
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.
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Índice:
WPRIM
Assunto principal:
Fenótipo
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Polineuropatias
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Pele
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Prevalência
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Doença de Fabry
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Alfa-Galactosidase
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Doenças Mitocondriais
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Diabetes Mellitus
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Alcoolismo
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Eritromelalgia
Tipo de estudo:
Etiology_studies
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Prevalence_studies
Limite:
Adult
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Humans
Idioma:
En
Revista:
Journal of Clinical Neurology
Ano de publicação:
2014
Tipo de documento:
Article