05152026
Ruling out ‘mimics’ of multiple sclerosis to facilitate diagnosis of the disease

Nearly three million individuals worldwide live with a diagnosis of multiple sclerosis (MS), a chronic autoimmune disease. Evidence suggests that both incidence and prevalence rates of MS have increased over the last few decades,  in part due to better access to diagnostics and care.

Yet, there are areas of this disease that remain mysterious. Clinical presentation of MS can vary significantly, with neurological signs and symptoms often overlapping with other inflammatory disorders. Despite growing availability of advanced clinical tools, diagnosing MS can still be challenging.

What is multiple sclerosis?

Multiple sclerosis is a condition where an individual’s immune system attacks myelin – the essential protective cover of neurons (nerve cells) – which is needed to send messages from the central nervous system to perform functions such as movement, sight, and sensation.

Though therapies that can mitigate the effects of this condition and improve a patient’s quality of life  are growing in availability, society still lacks a cure for MS. Moreover, the cause of the disease is not completely understood.

Some common symptoms of MS include cognitive or emotional changes, including depression or fatigue. Other symptoms, like numbness, tingling, pain and itching are also common among people living with MS. Certain symptoms like vertigo, dizziness, weakness or vision issues may also manifest with other similar autoimmune or nervous system conditions, presenting challenges for clinicians evaluating affected patients.

Other conditions can ‘mimic’ MS

Many of the primary symptoms of MS are also found in individuals living with other related conditions. Diseases like Sjögren’s syndrome, Lyme disease, systemic lupus erythematosus, neuromyelitis optica spectrum disorder, myelin oligodendrocyte glycoprotein antibody disease, transverse myelitis, and others can be considered ‘mimics’ of MS. This can make initial diagnosis and treatment decisions difficult.

Often, clinicians will need to evaluate individuals for other pathological causes of neurological symptoms mimicking MS before diagnosing a patient. As this can delay care, it is vital for physicians to quickly and accurately evaluate symptoms and aid in a differential diagnosis of MS.

Meeting physician need

To facilitate this process, combinations of existing tests can be used to help ‘rule out’ other conditions. This includes assays that test for Lyme disease or Sjögren's antibodies, or for rheumatoid factor, and a variety of other antibody-based titer testing to determine immunity levels against diseases. By introducing panels that screen for a variety of different conditions at once, laboratory testing service providers can help clinicians evaluate patients more quickly, getting them to diagnosis and treatment sooner, when therapies may be more effective.

Furthermore, over the last few years, researchers have increased their understanding of predictive biomarkers of MS. By comparing blood samples from individuals who eventually developed MS to MS-free samples, researchers found that, in some patients, markers of MS might be present in the bloodstream years before symptoms appear. This is another way emerging blood-based tests have the potential to revolutionize how physicians approach the diagnosis and treatment of this disease.

Conclusion

While multiple sclerosis can be a challenging condition for individuals living with the disease, both diagnostic technologies and emerging therapies are continuing to find new ways to aid the patient experience. It’s also possible that lessons learned from these MS-based advancements can be used to aid in the understanding of other degenerative brain disorders like Alzheimer’s and Parkinson’s disease, as well as ALS (amyotrophic lateral sclerosis). With so many exciting breakthroughs on the horizon, researchers and clinicians are optimistic about the possibility to treat patients even before symptoms begin – and with good cause. The future of neurology is bright, and diagnostic advancements are a large part of lighting the way.