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[Small fiber neuropathy]
V Langlois1, A-L Bedat Millet2, M Lebesnerais3
1Service de médecine interne et maladies infectieuses, CH Le Havre, 29, avenue Pierre-Mendès, 76290 Montivilliers, France; U1096, service de médecine interne, Normandie univ, UNIROUEN, 76000 Rouen, France.
Summary
Small fiber neuropathy (SFN) involves damage to small nerve fibers, causing neuropathic pain and other symptoms. Research highlights the role of ion channels like Nav1.7 and various underlying causes.
Area of Science:
- Neurology
- Neuroscience
- Genetics
Background:
- Small fiber neuropathy (SFN) is a condition affecting thinly myelinated Aδ and unmyelinated C-fibers.
- It often presents as neuropathic pain, commonly starting with burning feet, but can manifest in diverse ways.
- SFN can result from inherited or acquired factors, leading to paresthesia, thermoalgic disorders, or autonomic dysfunction.
Purpose of the Study:
- To elucidate the underlying mechanisms and diverse presentations of Small Fiber Neuropathy (SFN).
- To explore the role of ion channels, specifically Nav1.7, in the pathophysiology of SFN.
- To review the various etiologies and diagnostic approaches for SFN.
Main Methods:
- Clinical examination to identify neuropathic pain and sensory disturbances.
- Diagnostic tests such as laser evoked potentials, Sudoscan®, and cutaneous biopsy to demonstrate small fiber dysfunction.
- Genetic analysis to identify mutations in ion channels like Nav1.7.
Main Results:
- Recent research implicates ion channels, particularly Nav1.7, in SFN.
- Conditions like erythromelalgia and burning mouth syndrome are now recognized as SFN.
- Identified mutations in genes, such as for the Nav1.7 channel, leading to channelopathies.
Conclusions:
- SFN has diverse etiologies, including diabetes, metabolic disorders, vitamin deficiencies, alcohol use, autoimmune diseases, and sarcoidosis.
- Diagnosis relies on clinical findings and objective evidence of small fiber dysfunction.
- Management requires a multidisciplinary approach, addressing symptoms, psychological aspects, and underlying causes.