Diagnostic pitfalls in multiple sclerosis: how to avoid mistakes

Background. The diagnosis of multiple sclerosis (MS) represents a complex and multi-faceted process that necessitates an integrated assessment of clinical manifestations, neuroimaging techniques, and laboratory biomarkers. This article examines the principal diagnostic challenges encountered in the early identification of MS, with particular emphasis on the clinical heterogeneity and variability of disease progression. Special consideration is given to the role of advanced diagnostic modalities, including magnetic resonance imaging (MRI), which facilitates the detection of demyelinating lesions within the central nervous system. Furthermore, the utility of emerging disease-specific biomarkers is discussed in the context of enhancing the sensitivity and specificity of diagnostic algorithms. Purpose – conduct a comprehensive analysis of the medical literature regarding diagnostic errors in multiple sclerosis (MS), present recent advances in laboratory diagnostic methods, and perform a differential diagnosis of MS in comparison with alternative conditions, with a particular focus on magnetic resonance imaging (MRI) findings. Materials and methods. A bibliographic review of articles from the PubMed, Scopus, and Web of Science databases was conducted regarding the clinical manifestations of multiple sclerosis, its laboratory and instrumental diagnostics, as well as differential diagnosis. Results. Multiple sclerosis (MS) is a chronic autoimmune disease characterized by multifocal lesions of the central nervous system (CNS) resulting from inflammation, demyelination, gliosis, and damage to the myelin sheaths of neuronal axons. It most commonly affects individuals between the ages of 20 and 40. Clinically, the disease may present with deficits in multiple neurological functional systems, which complicates its diagnosis. Typical symptoms of MS include: decreased or loss of vision in one eye, double vision, pain during eye movement; numbness of the face, trunk, or limbs (as well as other sensory disturbances); weakness in the arms and legs; balance disorders, dizziness; urinary and genital dysfunction; pronounced general fatigue; cognitive impairments; anxiety and depressive states; and sleep disorders. However, since none of these manifestations are specific to MS, an accurate diagnosis requires assessing the overall pattern of symptoms in conjunction with findings from cerebrospinal fluid (CSF) analysis and magnetic resonance imaging (MRI). Conclusions. A spectrum of diagnostic errors at various stages of multiple sclerosis (MS) assessment has been identified. Strategies for their minimization have been outlined, including the implementation of educational programs focused on the clinical presentation of MS, the correct application of the McDonald diagnostic criteria, the integration of novel laboratory diagnostic methods, accurate interpretation of MRI findings, and effective interdisciplinary collaboration between clinicians and neuroradiologists.