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. 2024 Dec 12;272(1):29.
doi: 10.1007/s00415-024-12807-1.

Factors affecting the diagnostic delay of myasthenia gravis

I R Marlet  1 , R K Andersen  2 , K H Axelsen  2 , L K Andersen  2 , J Vissing  2 , N Witting  2
Affiliations

Factors affecting the diagnostic delay of myasthenia gravis

I R Marlet et al. J Neurol. .

Abstract

Background: Early detection and diagnosis of myasthenia gravis (MG) is important to improve the chance of remission and overall prognosis. This study aims to investigate the factors affecting the diagnostic delay of MG thereby highlighting the challenges in the diagnostic process.

Methods: We conducted a retrospective study examining characteristics and factors involved in the diagnostic process of MG. We included 350 patients treated for MG at the Copenhagen Neuromuscular Unit (CNMC), between 1980 and 2022. A total of 315 patients had data on time to diagnosis, which was used to categorize them into an early-and a delayed diagnosis group, based on a median cut-off of 141 days. A separate analysis was conducted for the cases with an extremely delayed time to diagnosis exceeding the upper quartile range of 864 days (n = 28). Finally, change in time to MG diagnosis over time was identified.

Results: The overall mean time to diagnosis was found to be 331 days (range: 5-4492 days). Patients who experienced a delayed diagnosis were significantly younger at onset (50.4 vs. 55.4 years, p-value < 0.05), and experienced higher frequency of asymptomatic periods (29% vs. 10%, p-value < 0.05). We found a delayed referral to specialists, extended time spent at specialists, and delayed initiation of paraclinical diagnostic tests. Additionally, in the delayed group we found extended time from the initial antibody (AB) evaluation to the first positive result (3.2 vs. 86.1 days, p-value < 0.05). Individuals in the early diagnosis group may be referred to stroke specialist earlier, however, this finding was not statistically significant (18 vs. 464 days, p-value 0.17). Gender, presenting symptom, final type of MG and socioeconomic status where not associated with delayed diagnosis. Generally, a trend of decreasing time to diagnosis over time was observed.

Conclusion: Younger age at onset, higher prevalence of asymptomatic periods, and a delayed positive AB titer test may be risk factors for a delayed MG diagnosis. Prompt referral to a stroke specialist may lead to an earlier diagnosis.

Keywords: Delay; Diagnosis; Diagnostic process; Myasthenia gravis; Neuromuscular junction; Time to diagnosis.

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Conflict of interest statement

Declarations. Conflicts of interest: All authors were funded by an unrestricted grant from UCB Biopharma. J. Vissing has been a consultant for Amicus Therapeutics, Arvinas, Biogen, Fulcrum Therapeutics, Genethon, Horizon Therapeutics, Lupin, ML Biopharma, Novartis Pharma AG, Regeneron, Roche, Sanofi Genzyme, Sarepta Therapeutics and UCB Pharma. He has received research, travel support and/or speaker honoraria from Alexion Pharmaceuticals, argenx, Biogen, Edgewise Therapeutics, Fulcrum Therapeutics, Lupin, Sanofi Genzyme, and UCB Pharma.

References

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