Clinical and demographic characteristics of patients with NMOSD: a longitudinal retrospective analysis of a Slovak cohort of 63 patients

Background: Neuromyelitis optica spectrum disorders (NMOSD) are autoantibody-mediated inflammatory diseases of the central nervous system predominantly targeting optic nerves and the spinal cord. Two distinct phenotypes are recognized based on the presence of serum aquaporin-4 (AQP4-IgG) antibodies. However, contrasting clinical course patterns have been identified between AQP4-IgG-positive and AQP4-IgG-negative patients.

Aims: This study aimed to present demographic and clinical characteristics of patients with NMOSD in Slovakia and to evaluate the significance of differences between AQP4-IgG-seropositive and AQP4-IgG-seronegative patients.

Methods: We performed a longitudinal multi-centric retrospective study and analysed the clinical and demographic characteristics of a cohort of 63 Slovak NMOSD patients.

Results: Eighty-six percent of patients were women, and ninety-four patients were Caucasian. The median age at diagnosis was 37 years. The most frequent initial manifestations were optic neuritis (47.6% of patients) and transverse myelitis (39.7% of patients). The median EDSS score deteriorated from the initial 3.0 to 4.0 at the last follow-up. Sixty-eight percent of patients were AQP4-IgG positive; 10% of patients were MOG-IgG positive; 27% of patients had no NMOSD-specific antibodies detected. There was a higher prevalence of autoimmune thyroiditis among AQP4-IgG-positive patients (25.6%) compared to AQP4-IgG-negative patients (0%) (p = 0.01).

Conclusion: This study provides a detailed overview of the clinical and demographic characteristics of NMOSD based on a retrospective analysis of a Slovak cohort of 63 NMOSD patients and extends information provided by similar recently published studies. The most important finding is that there is a high prevalence of autoimmune thyroiditis among AQP4-IgG-negative patients (25%).