Objective:

A large-scale, in-depth analysis of clinical, electrophysiological characteristics and treatment response of autoantibody associated immune-mediated neuropathies.

Background:

Chronic inflammatory neuropathies (CINs) can have varied clinical presentations. In the past two decades several autoantibodies have been identified in CIN patients. While the literature suggests specific clinical phenotypes with some of these autoantibodies, the full range of possible presentations and the associated clinical syndromes of each antibody requires additional investigation.

Design/Methods:

We reviewed the electronic medical records of adult patients undergoing evaluation for immune mediated neuropathies between 01/01/2012 and 04/01/2022 at our institution who were assessed for autoantibodies. The clinical presentations, laboratory work-up, electrodiagnostic studies, and treatment responses were reviewed for this ongoing project.  

Results:

This analysis resulted in a total of 1168 patients who were evaluated for CIN-associated autoantibodies. Anti-trisulfated-heparin-disaccharide (TS-HDS) autoantibodies were present in 266 (22.8%) patients, anti-fibroblast-growth-factor-receptor-3 (FGFR3) autoantibodies were present in 200 (17.1%) patients and 33 (2.8%) patients were positive for anti-neurofascin (NF)-140/155 autoantibodies. Other autoantibodies were rare (<1%), and multiple autoantibodies were detected in some patients.. Interestingly, some patients with anti-NF presented with focal sensorimotor dysfunction prior to subsequent bilateral involvement. About 20% of patients with anti-NF autoantibodies had predominant demyelinating features in electrodiagnostic studies. Anti-FGFR3 autoantibodies were often associated with sensory involvement, but sometimes motor dysfunction was also present. Anti-TS-HDS-associated CIN had a more varied clinical presentation. There were differences in therapeutic response based on the associated autoantibodies; however, the therapeutic decision was provider-specific, and a direct comparison was not feasible.

Conclusions:

Autoantibodies associated with CINs can have a variety of often overlapping motor and sensory presentations. In a subset of patients, their presence can help gauge therapeutic responsiveness. However, in some cases, they may represent an epiphenomenon, and further studies are warranted.