Neuromyelitis Optica Spectrum Disorder (NMOSD): New Generation Medical Laboratory Diagnostic Biomarkers (PP-13)

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare autoimmune condition that primarily affects the central nervous system, resulting in significant inflammation and damage, especially in the optic nerves and spinal cord. Identifying novel medical laboratory diagnostic markers is essential for improving the accuracy and timeliness of NMOSD diagnoses. This review evaluates the diagnostic significance of various biomarkers, including autoantibodies such as AQP4 and anti-MOG, as well as chemokines and cytokines, the IgG index, neurofilament light chain (NFL), and glial fibrillary acidic protein (GFAP). Additionally, it examines emerging biomarkers, including complement system proteins (C3 and C4), microRNAs, exosomes, and metabolites associated with NMOSD.
The results indicate that NFL and GFAP are particularly promising in differentiating NMOSD from other neuroinflammatory disorders. Notably, GFAP levels significantly increase during relapse periods, suggesting astrocytic damage and inflammation. Furthermore, microRNAs such as miR-155 and miR-146a have been proposed as potential diagnostic indicators due to dysregulation in NMOSD. Also, this research highlights the importance of identifying distinct subgroups within the NMOSD population, which may aid in the development of treatment strategies and improve patient outcomes. Furthermore, the integration of new biomarkers into clinical practice requires the standardization of testing protocols and access to specialized laboratories. The introduction of multi-biomarker panels is vital as a promising strategy for providing a comprehensive evaluation of disease activity and severity, thereby improving diagnostic accuracy and ongoing patient monitoring.
Consequently, the development and validation of reliable biomarkers are essential for optimizing the management of NMOSD, enabling earlier interventions, and ultimately enhancing the quality of life for affected individuals. Continued research in this field holds significant potential for advancing therapeutic strategies and informing clinical decision-making in the management of NMOSD.