Blood 1-Deoxysphingolipid Levels Are Associated With Epidermal Denervation in Small Fiber Neuropathy

Area of Science:

• Neurology
• Metabolic Disorders
• Dermatology

Background:

• Sphingolipid metabolism dysfunction causes nerve fiber degeneration in hereditary neuropathies.
• Idiopathic small fiber neuropathy (SFN) involves small nerve fiber loss.

Purpose of the Study:

• Investigate the association between blood 1-deoxysphingolipid (1-deoxySL) profiles and skin denervation in idiopathic SFN.
• Explore correlations with amino acid profiles and glucose/lipoprotein metabolism.

Main Methods:

• Prospective recruitment of 75 idiopathic SFN patients.
• Skin punch biopsies for intraepidermal nerve fiber density (IENFD) quantification.
• Correlation analysis of IENFD with blood 1-deoxySL, amino acids, glucose, and lipoprotein levels.

Main Results:

• Lower IENFD (LFD) was observed in 51% of patients.
• Elevated 1-deoxySL levels were found in patients with LFD compared to HFD (p < 0.05).
• Patients with LFD also showed higher fasting plasma glucose (p < 0.01) and lower HDL (p < 0.001).

Conclusions:

• 1-deoxySL, glucose, and lipoprotein metabolism are associated with epidermal denervation severity in SFN.
• This metabolic axis plays a role in the pathology of small nerve fiber damage.