Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.

[fabry disease]

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 .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 ).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 .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 .

Diseases
Validation

Diseases presenting "impaired glucose tolerance (58.3%" symptom

fabry disease

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