Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
Journal of Clinical Neurology
;
: 108-118, 2014.
Article
in English
| WPRIM
| ID: wpr-84614
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Polyneuropathies
/
Skin
/
Prevalence
/
Fabry Disease
/
Alpha-Galactosidase
/
Mitochondrial Diseases
/
Diabetes Mellitus
/
Alcoholism
/
Erythromelalgia
Type of study:
Etiology study
/
Prevalence study
Limits:
Adult
/
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2014
Type:
Article
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