Diagnostic delay of multiple sclerosis: prevalence, determinants and consequences

Area of Science:

• Neurology
• Clinical Research
• Disease Diagnosis

Background:

• Early diagnosis and treatment are crucial for better outcomes in multiple sclerosis (MS).
• Diagnostic delays represent a significant challenge in managing MS effectively.
• Understanding the factors and consequences of delayed MS diagnosis is essential for improving patient care.

Purpose of the Study:

• To determine the prevalence and causes of diagnostic delays in adult relapsing-remitting MS patients.
• To investigate the associations between diagnostic delays and clinical, cognitive, imaging, and biochemical markers.
• To identify physician- and patient-dependent factors contributing to delayed MS diagnosis.

Main Methods:

• An ambispective study of 146 adult relapsing-remitting MS patients diagnosed between 2016 and 2021.
• Analysis of diagnostic delay frequency, determinants, and correlations with clinical outcomes.
• Inclusion of Expanded Disability Status Scale (EDSS) scores, brain lesion counts, and blood neurofilament light chain levels.

Main Results:

• Over half of patients (52.7%) experienced diagnostic delays, with physician-dependent factors (28.7%) and patient-dependent factors (24.0%) being significant contributors.
• Misdiagnosis by a neurologist occurred in 15.1% of cases.
• Longer delays correlated with higher EDSS scores and elevated blood neurofilament light chain levels, indicating greater disease burden.

Conclusions:

• Diagnostic delays are prevalent in multiple sclerosis, frequently stemming from initial misdiagnosis.
• Delayed diagnosis is associated with increased disease severity, as evidenced by higher disability scores and lesion burden.
• Addressing diagnostic delays is critical for optimizing management and improving long-term outcomes for MS patients.