Key Quote From the Researchers:

“These findings show that a thorough and critical review, and sometimes re-evaluation of the disease course, is essential in a diagnosis of PPMS and that even in patients with a complete diagnostic workup, the diagnosis can be challenging.”

A study recently published in the European Journal of Neurology suggests that while diagnosing primary progressive multiple sclerosis (PPMS) remains a challenge, a comprehensive approach to diagnosis that includes correct application of the McDonald criteria in real-world settings can improve diagnostic accuracy.

In the retrospective analysis, researchers reviewed clinical, radiological, and laboratory characteristics at the time of diagnosis from 322 PPMS patients’ files. Patients with potentially complicating factors, such as confounding comorbidity, signs indicative of alternate diagnoses, possible earlier relapses, and/or incomplete diagnostic workups, were recorded and removed from final calculations of the number of patients meeting the 2010 and 2017 McDonald criteria, the guidelines used to diagnose MS. 

A total of 28 patients had a confounding comorbidity and/or signs indicating an alternate diagnosis, while 103 had possible initial relapsing and/or uncertainly progressive phenotypes, and 73 lacked a complete diagnostic workup.

Of the remaining 118 patients studied—each of whom received a full diagnostic workup and a primary progressive disease course without a better alternative explanation—104 patients (88.1%) met the 2010 McDonald criteria and 98 (83.1%) met the 2017 criteria. 

“These findings show that a thorough and critical review, and sometimes re-evaluation of the disease course is essential in a diagnosis of PPMS and that even in patients with a complete diagnostic workup, the diagnosis can be challenging,” the study authors wrote.

The authors added that their data showed the need for a critical review of patients’ prior medical history and possible confounding factors before making a PPMS diagnosis. 

“Furthermore,” they said, “conducting a thorough diagnostic workup including CSF (cerebrospinal fluid) analysis is crucial. The 2010 and 2017 McDonald diagnostic criteria for PPMS perform similarly when these factors are taken into account, emphasizing the importance of their appropriate application in clinical practice.”

Reference

Blok KM, Smolders J, van Rosmalen J, Martins Jarnalo CO, Wokke B, de Beukelaar J. Real‐world challenges in the diagnosis of primary progressive multiple sclerosis. European Journal of Neurology. Published online 2023. doi:10.1111/ene.16042

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