The Evolution of the Diagnostic Process in Multiple Sclerosis

Early diagnosis is one of the most important characteristics of effective MS treatment, since the greatest irreversible disabilities tend to occur early in the course of MS disease progression.

Fred D. Lublin, MD, professor of neurology and director of the Corinne Goldsmith Dickinson Center for Multiple Sclerosis at Mount Sinai Medical Center started off The 2013 Annual Meeting of the Consortium of Multiple Sclerosis Centers (CMCS) and the Americas Committee for Treatment of and Research in Multiple Sclerosis (ACTRIMS) with an update on the state of multiple sclerosis (MS) diagnosis in a talk titled, “The Evolution of the MS Diagnostic Process: Where We Were; Where We Are; Were We Need to Be.” He argued that diagnosis of MS has largely been a default diagnosis that most prominently involves the process of elimination of other diseases.

Lublin pointed out that the originator of the first MS diagnostic criteria, the neurologist Jean-Martin Charcot, had established a simple set of MS diagnostic criteria in the 1860s that still hold true today. Charcot stated that MS involves a central nervous system (CNS) disorder as a result of repeated lesions that are randomly disseminated in time and space. An additional caveat is that no other cause could be determined.

While Charcot’s original simple criterion still holds true today, the systematic determination of other non-MS pathologies has been greatly expanded in modern times. Lublin highlighted one particularly thorough manuscript that was published in volume 14 of the journal Multiple Sclerosis by David H. Miller et al. in 2008. This study categorized minor and major red flags that are most useful in determining whether or not to make a MS diagnosis. For example, any of the following individual red flags suggest that MS may not be involved: localized pathology only, vitamin B12 deficiency, symptoms of less than 24 hours in duration, absence of sensory findings, or presence of other non-CNS diseases such as anemia, dermatological lesions, or cardiomyopathy.

Lublin clarified that objective dissemination of CNS lesions in time and space is an essential component to proper MS diagnosis. Several modern refinements to MRI-based MS diagnosis have been developed recently. Lublin particularly appreciates the simplified MRI metrics for clinically isolated syndromes in MS patients as described by Montalban et al. in the journal Neurology in 2010. Lublin stressed that interpreting MRIs is a real skill that requires experience and expertise in interpretation of images. Determination of metrics of MS disease progression remains an area of active work in progress.

Lublin also emphasized that while we have made great strides in increasing our understanding of MS disease progression, our understanding of what causes MS is still lacking. Fresh perspectives and developments remain sorely needed to increase our understanding of MS etiology.

Lublin emphasized that early MS diagnosis is one of the most important characteristics of effective MS treatment, since the greatest irreversible disabilities tend to occur early in the course of MS disease progression.