Abstract Details

Title Clinical presentation and management in cryptogenic immune small fiber neuropathy with TS-HDS, FGFR-3, or Plexin-D1 antibodies

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 061

Objective

To better define the prevalence, presentation, and management of cryptogenic small fiber neuropathy with TS-HDS, FGFR-3, or Plexin-D1 antibodies.

Background Small Fiber Neuropathy (SFN) has a global prevalence of approximately 4 million individuals. 50% of SFN cases are idiopathic but novel antibodies to trisulfated disaccharide IsoA2S-G1cNS-6S (TS-HDS), fibroblast growth factor receptor 3 (FGFR-3), and Plexin-D1 have been implicated in cryptogenic SFN or neuropathic pain. The clinical presentation and management of patients with these antibodies has yet to be clearly elucidated.

Design/Methods A retrospective analysis of all SFN patients in a university neuropathy clinic over 18 months revealed 62 cases of cryptogenic SFN. Patients with TS-HDS, FGFR-3, and Plexin-D1 antibodies were identified and compared to seronegative cases. Demographics, clinical features, autonomic results, and treatment responses were analyzed.

Results Of the 62 cryptogenic SFN cases, 73% were female and 40% had either TS-HDS, FGFR-3, or Plexin-D1 antibodies. Of the seropositive patients, 64% had TS-HDS, 28% had FGFR-3, 20% had Plexin-D1, and 12% had TS-HDS and FGFR-3. Females were significantly more likely to be FGFR-3 negative (p= 0.012). Seropositive patients had an average small fiber neuropathy screening list (SFN-SL) score of 29.55 vs. 20.89 in the seronegative group (p=0.035). Seropositive patients had significantly more symptoms affecting the face (p=0.023). 48% of the positive group were length-dependent versus 43% in the negative group (OR=1.2). There was no statistical difference between novel antibody status and the presence of autoimmune markers (eg, anti-nuclear antibody). 3 patients completed a 6-month course of IVIG treatment with an average increase in epidermal nerve fiber density (ENFD) of 721% on skin punch biopsy.

Conclusions TS-HDS, FGFR-3, and Plexin-D1 antibodies may be present in a high proportion of cryptogenic SFN cases with greater SFN-SL scores (suggesting greater disease burden), facial involvement, and length-dependence. Seropositive cases may respond substantially to IVIG suggested by higher ENFD post-treatment.

Authors/Disclosures
Pravesh Saini, MD (LAC + USC Keck Medical Center) PRESENTER	Dr. Saini has nothing to disclose.
Peter Q. Mai, MD (Barrow Neurological Institute)	Dr. Mai has nothing to disclose.
Lawrence A. Zeidman, MD, F�鶹��ýӳ�� (Endeavor Health Northshore Department of Neurology)	Dr. Zeidman has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Johnson & Johnson. Dr. Zeidman has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Zeidman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Zeidman has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Smith Blake Hill LLC. The institution of Dr. Zeidman has received research support from Octapharma. Dr. Zeidman has received publishing royalties from a publication relating to health care.

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