Abstract

Background and objectives: multiple sclerosis (MS) is a chronic demyelinating disorder of the CNS with a variable course and disability progression. The latter may be prevented with disease-modifying therapy (DMT). Initial misdiagnosis may postpone the use of DMT. There are no studies to explore whether initial misdiagnosis is indeed associated with a higher rate of reaching disability in MS patients. We aimed to investigate the association between initial misdiagnosis and reaching disability milestones in relapsing-remitting MS (RR-MS) patients. Materials and methods: Data from 128 RR-MS patients were retrospectively reviewed. EDSS 4 and EDSS 6 were chosen as disability milestones as those associated with a significant decrease in ambulation. Survival analysis was used, and Kaplan–Meier curves were generated to investigate how initial misdiagnosis affects reaching the defined milestones. Results: 53 patients (41.4%, 31 females, 22 males) were initially misdiagnosed. Initially misdiagnosed patients had a lesser risk of reaching EDSS 4 up to 11 years and EDSS 6 up to 22 years from the onset than non-misdiagnosed patients (p = 0.22 and p = 0.25 correspondingly). Median time to reaching EDSS 4 and 6 was eight years (95% CI 0.0–17.6) and 10 years (95% CI 4.25–20.75) in misdiagnosed and three years (95% CI 0.0–20.0 years) and five years (95% CI 0.0–13.73 years) in non-misdiagnosed patients correspondingly. Conclusions: Initially misdiagnosed RR-MS patients tended to reach disability milestones later than non-misdiagnosed ones, which might reflect an intrinsically milder disease. Individuals presenting with mild or non-specific symptoms suspicious of MS, must be deliberately managed.

Highlights

  • Multiple sclerosis (MS) is a chronic demyelinating immune-mediated disease of the CNS.Its presentation varies based on the CNS sites affected by demyelination

  • Collected data included the parameters that were identified by existing studies as the risk factors for disability progression in patients with Relapsing-remitting multiple sclerosis (RR-MS), such as patients’ sex, age of MS onset, smoking, disease-modifying therapy (DMT), BMI [1], along with years before the sustained EDSS 4 and 6 from MS onset, prehistory of an initial misdiagnosis, specification of the incorrect diagnosis and the neurologic symptoms the patients had at the first presentation to a physician

  • There was a trend for the initial misdiagnosis in patients with RR-MS to be associated with a lesser risk of reaching disability milestones compared to patients who were diagnosed correctly at the first encounter

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Summary

Introduction

Multiple sclerosis (MS) is a chronic demyelinating immune-mediated disease of the CNS. Its presentation varies based on the CNS sites affected by demyelination. It can include sensory, motor, visual and/or balance disturbances, impairment of bowel and/or bladder function, disrupted emotions and cognition, etc. Global MS prevalence is estimated to be 50–300 per 100,000, with 2–3 million people affected worldwide [1]. MS causes a substantial social impact and economic burden since the incidence of the disease peaks at the mid-thirties (i.e., productive population), and it became the world-leading cause of non-traumatic neurological disability among young people [2]. Relapsing-remitting multiple sclerosis (RR-MS) is the most common MS phenotype accounting for 85%–90% of MS cases [3,4]

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