Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease.
10.3988/jcn.2014.10.2.108
- Author:
Kristin SAMUELSSON
1
;
Konstantinos KOSTULAS
;
Magnus VRETHEM
;
Arndt ROLFS
;
Rayomand PRESS
Author Information
1. Department of Neurology, Department of Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden. kristin.samuelsson@ki.se
- Publication Type:Original Article
- Keywords:
etiology;
Fabry disease;
idiopathic;
impaired glucose tolerance;
small fiber neuropathy
- MeSH:
Adult;
Alcoholism;
alpha-Galactosidase;
Diabetes Mellitus;
Erythromelalgia*;
Fabry Disease*;
Glucose;
Humans;
Mitochondrial Diseases;
Phenotype*;
Polyneuropathies;
Prevalence;
Skin
- From:Journal of Clinical Neurology
2014;10(2):108-118
- CountryRepublic of Korea
- Language:English
-
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.
