Much of the medical literature on multiple sclerosis is focused on experimental therapies that are under investigation. This can indeed make for a fascinating discussion, but ideas presented in research papers can seem rather abstract when it comes to day-to-day clinical practice.
The reality is that unless the fruits of clinical research filter down into routine practice, a wide gulf remains between what is envisioned in a lab and what general practitioners deal with on a daily basis.
In this article, we will be taking a practical approach and discussing the steps physicians should take in detecting and responding to possible multiple sclerosis symptoms in a primary care setting.
Benign Presentation Could Hinder Diagnosis
Michael J. Oleg from Touro University Nevada in Henderson wrote in the Annals of Internal Medicine, “Multiple sclerosis is the most common nontraumatic cause of neurological disability in persons younger than 40 years.” In Cold Spring Harbor Perspectives in Medicine, Klineova and Lublin note that “multiple sclerosis is a leading cause of disability in young adults in the United States and Europe.”
Read more about multiple sclerosis etiology
Although these figures may very well be accurate, they may not necessarily feel very true in a clinical setting. If you are a physician working in primary care, the sheer number of patients you are likely to see on a daily basis renders much of these statistics redundant; in other words, the most common cases seen in primary care will always be the common cold, a change in bowel movements, and other minor ailments.
The most clinically relevant aspect of any disease is the constellation of signs and symptoms that accompany it. A primary care practitioner’s worst nightmare is diagnosing a disease too late when presented with earlier opportunities to identify it. This is, of course, sometimes inevitable, given the heterogeneity of symptoms that patients present with, and when they choose to seek a consultation.
However, this can be minimized if we develop a nose for recognizing suspicious signs and symptoms that may later lead to a more definitive diagnosis. This is certainly true for multiple sclerosis, which can present rather benignly at first.
Multiple sclerosis can affect any part of the central nervous system, meaning there is a long list of potential differentials to which presenting symptoms can be attributed.
Some common symptoms that patients with multiple sclerosis present with include:
- Optic neuritis
- Clinically isolated syndromes (CIS)
- Muscle weakness and reduced sensation
- Cognitive dysfunction
- Mental and physical fatigue
- Urinary frequency, urgency, or retention.
“Symptoms typically occur as a consequence of focal inflammatory plaques that cause functional areas of neuronal loss or interruption of critical axonal tracts,” Oleg wrote. “In most patients, focal lesions occur intermittently and acutely, leading to a ‘relapse’ or ‘flare’ in which symptoms evolve over the course of days and may last for weeks or months before improving, if they do improve.”
Integrating ‘Different Types of Evidence’
Interestingly, diagnostic biomarkers for multiple sclerosis do not exist, which further complicates attempts to arrive at a correct diagnosis. However, the 2017 McDonald criteria provide an evidence-based, objective way to assess suspected multiple sclerosis patients, who can then be referred to specialist neurological care if required.
“The 2017 McDonald criteria are widely accepted as the best way to integrate the different types of evidence,” Oleg wrote.
The 2017 McDonald criteria consist of 2 main pillars. The first requires 2 relapses (as a CIS) plus 2 objective signs over time or 1 relapse (as a CIS) with 2 clinical signs plus specific MRI findings. Second, there must be no better explanation for the patient’s signs, symptoms, and MRI findings.
“The goal is to make a rapid and accurate diagnosis of multiple sclerosis to allow appropriate management (initiation of treatment or observation), keeping fully in mind the potential dangers of misdiagnosis in an era with increasing numbers of treatment options for multiple sclerosis, which carry varying degrees of risk,” the 2017 McDonald criteria panel wrote.
Read more about multiple sclerosis diagnosis
The nature of multiple sclerosis makes it unlikely to be accurately diagnosed upon first presentation, unless the patient presents with a clear history of CIS over a period of time. Most often, physicians have no choice but to adopt a “wait and see” approach, but they can still inform patients of their suspicion and educate them on potential symptoms to watch out for.
The goal in primary care as it relates to multiple sclerosis is clear: to diagnose the disease as early as possible so treatment can be started as soon as possible. The sheer quantity of patients that general practitioners see on a daily basis and the breadth of pathologies that present themselves in a day make insidious diseases like multiple sclerosis easy to miss, but increased awareness of potential symptoms can help nudge physicians in the right direction.
Olek MJ. Multiple sclerosis. Ann Intern Med. 2021;174(6):ITC81-ITC96. doi:10.7326/AITC202106150
Klineova S, Lublin FD. Clinical course of multiple sclerosis. Cold Spring Harb Perspect Med. Published online September 4, 2018. doi:10.1101/cshperspect.a028928
Thompson AJ, Banwell BL, Barkhof F, et al. Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria. Lancet Neurol. 2018;17(2):162-173. doi:10.1016/S1474-4422(17)30470-2