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Can be associated with: Small Fiber Neuropathy Diabetes mellitus, IGT Hyperlipidemia, Hemochromatosis Liver, kidney, thyroid dysfn Amyloidosis Fabry’s disease Neurotoxic drugs (e.g. chemotx) Anti-phospholipid Ab syndrome Connective tissue disease Sarcoidosis Celiac disease HIV EtOH abuse Idiopathic (No Apparent Cause): 25% - 93% in diff. series.
SCN9A mutations: 8 of 28 pts with biopsyconfirmed SFN Patients referred with a clinical diagnosis of Small Fiber Neuropathy (SFN) N=248 No underlying causes identified N=63 (25.4%) Underlying causes identified N=185 (74.6%)* Lost to follow-up or refused further participation N=19 Excluded Patients with idiopathic SFN N=44 IENFD + QST normal N=3 IENFD or QST abnormal N=13 IENFD + QST abnormal N=28 Excluded No mutation found in SCN9A N=20 Mutation found in SCN9A N=8 Faber et al, Ann. Neurol., 2011
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Page 5 and 6: Molecular Pathophysiology of a Huma
Page 7 and 8: Sodium Channels and Small Fiber Neu
Page 9: Small Fiber Neuropathy • Dysfunct
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Page 20: EFNS guidelines on skin biopsy 2010

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