Diagnostic delay of multiple sclerosis: prevalence, determinants and consequences
Tomáš Uher, Adrian Adzima, Barbora Srpová, Libuše Nosková, Bénédicte Maréchal, Aleksandra Maleska Maceski, Jan Krásenský, Dominika Šťastná, Michaela Andělová, Klára Novotná, Karolína Vodehnalová, Jiří Motýl, Lucie Friedová, Jiri Lindner, Veronica Ravano, Andrea Burgetová, Petr Dušek, L Fialová, Eva Havrdová, Dana Horáková, Tobias Kober, Jens Kühle, Manuela Vaněčková
Abstract
Background: Early diagnosis and treatment of patients with multiple sclerosis (MS) are associated with better outcomes; however, diagnostic delays remain a major problem. Objective: Describe the prevalence, determinants and consequences of delayed diagnoses. Methods: This single-centre ambispective study analysed 146 adult relapsing-remitting MS patients (2016–2021) for frequency and determinants of diagnostic delays and their associations with clinical, cognitive, imaging and biochemical measures. Results: Diagnostic delays were identified in 77 patients (52.7%), including 42 (28.7%) physician-dependent cases and 35 (24.0%) patient-dependent cases. Diagnosis was delayed in 22 (15.1%) patients because of misdiagnosis by a neurologist. A longer diagnostic delay was associated with trends towards greater Expanded Disability Status Scale (EDSS) scores ( B = 0.03; p = 0.034) and greater z-score of the blood neurofilament light chain ( B = 0.35; p = 0.031) at the time of diagnosis. Compared with patients diagnosed at their first clinical relapse, patients with a history of >1 relapse at diagnosis ( n = 63; 43.2%) had a trend towards greater EDSS scores ( B = 0.06; p = 0.006) and number of total ( B = 0.13; p = 0.040) and periventricular ( B = 0.06; p = 0.039) brain lesions. Conclusion: Diagnostic delays in MS are common, often determined by early misdiagnosis and associated with greater disease burden.