Unlocking the Mysteries Behind a Multiple Sclerosis Diagnosis
- Advances in imaging and new biomarkers are giving neurologists far more confidence in diagnosing multiple sclerosis early and helping patients understand their symptoms.
- New MRI biomarkers, including the central vein sign (a feature that shows a tiny blood vessel running through the middle of a multiple sclerosis lesion) and paramagnetic rim lesions (present in 40 to 50% of MS patients), are giving neurologists far greater accuracy and confidence when diagnosing multiple sclerosis.
- Paramagnetic rim lesions may also serve as a future biomarker for disease severity and progression, offering new insight for treatment development.
- Dr. Nancy Sicotte, Chair of Neurology and Director of Multiple Sclerosis and Neuroimmunology at Cedars-Sinai, says clearer diagnostics also help patients understand symptom flares — separating true relapses from pseudo‑relapses triggered by stress, infection, or fatigue.
For many people living with multiple sclerosis (MS), getting a definitive diagnosis can take years. Subtle symptoms, confusing MRI findings, and overlapping neurological conditions often left patients in limbo.
However, according to Dr. Nancy Sicotte, Chair of Neurology and Director of Multiple Sclerosis and Neuroimmunology at Cedars‑Sinai in Los Angeles, that landscape is changing fast. Read More
Sharper Diagnostic Tools Are Ending Years of Uncertainty
Dr. Sicotte says improvements in MRI technology and the incorporation of new imaging biomarkers into diagnostic criteria are making multiple sclerosis diagnoses more precise. “MRI is the technique of choice to evaluate folks for MS,” Dr. Sicotte explains.“Given how well our scanners work and how sensitive the sequences are, you really cannot diagnose someone with MS unless they have something abnormal on their MRI.”
Those abnormalities Dr. Sicotte speaks of include bright spots or signal changes in the brain’s white matter detected in imaging scans, which reflect damage to myelin, the protective coating around nerves.
“That is a hallmark of the condition,” she says.
For years, MRI findings weren’t always clear‑cut. Other conditions can also cause white matter changes, leading to misdiagnosis in some cases. New imaging techniques have made a dramatic difference in this space, improving diagnostic accuracy.
The Central Vein Sign: A Breakthrough in Accuracy
One of the most important advances is the ability to detect the central vein sign (CVS), a feature that shows a tiny blood vessel running through the middle of a multiple sclerosis lesion.
“These newer sequences can allow us to identify whether the lesion has something called a central vein sign,” Dr. Sicotte says.
“If more than 50% of the lesions have a central vein sign, then it’s very likely we’re dealing with MS,” Dr. Sicotte adds.
This central vein matters because MS lesions form around blood vessels, which is a pattern not typically seen in other conditions. The result: far more precise diagnosis and fewer patients being told they have MS based on nonspecific symptoms or ambiguous scans.
A New Biomarker With Big Potential: Paramagnetic Rim Lesions
Another emerging tool is the paramagnetic rim lesion, sometimes called a “PRL” or “pearl.” These lesions are less common than central vein signs but may carry even more clinical significance.
“About 40 to 50% of patients will have PRLs overall,” Dr. Sicotte notes, “and we’ve been seeing a lot more of them in newly diagnosed patients.”
What makes PRLs exciting is their potential to predict disease severity and progression. They may become a valuable biomarker for developing treatments aimed not just at preventing relapses, but at slowing the gradual worsening some patients experience over time.
“We’re very excited about these new biomarkers because we think they give us more precision in diagnosis,” Dr. Sicotte says.
Decoding Symptoms: Is It a Relapse or a Pseudo‑Relapse?
Even after diagnosis, one of the most confusing parts of living with MS is understanding what worsening symptoms actually mean. Dr. Sicotte says this is an area where education is essential.
“What we definitely see in patients is that there could be a re‑emergence of old symptoms under circumstances of stress,” she explains.
Fever, infections, fatigue, or even emotional strain can temporarily bring back symptoms that had previously improved.
“We call this a pseudo‑relapse,” she says. “It’s not actually a new episode of inflammatory activity, but it’s the old symptoms that come back.”
Pseudo‑relapses can feel identical to a true relapse, especially for newly diagnosed patients. Neurologists spend significant time helping people understand the difference.
A true relapse involves new inflammation and new lesions on MRI. A pseudo‑relapse is a temporary flare of old symptoms triggered by something external and it does not indicate new disease activity.
“Stress can definitely worsen underlying symptoms,” Dr. Sicotte says, “and this can be very confusing for patients.”
A New Era of Precision for People With MS
These advances from high‑resolution MRI sequences to biomarkers like the central vein sign and paramagnetic rim lesions are reshaping how multiple sclerosis is diagnosed and monitored.
These improvements are expected to reduce misdiagnosis, speed up treatment decisions, and give patients clearer insight into what their symptoms mean.
For a disease long marked by uncertainty, Dr. Sicotte says the progress is both overdue and encouraging.
“These techniques allow us to feel much more confident that when we’re looking at these changes, it’s being caused by demyelination,” she says.
Better Understanding Multiple Sclerosis
Multiple sclerosis (MS) is an “immune‑mediated condition,” meaning the immune system mistakenly attacks the body’s own tissues, explains Dr. Lauren Krupp, a neurologist at NYU Langone.
“We’re not exactly sure why that happens,” she tells SurvivorNet, “but it probably has to do with exposure to a virus at some point. In the effort to fight off that virus, the immune system turns against itself and specifically targets a coating of the nerves called myelin.”
Myelin protects nerve fibers in the central nervous system, which includes the brain and spinal cord. When it’s damaged, communication between the brain and the rest of the body becomes disrupted.
Since MS can affect different areas of the brain or spinal cord, Dr. Krupp notes, “the symptoms can vary in location.”
Common symptoms include:
- Numbness or tingling in the face
- Numbness or weakness in the arms or legs
- Vertigo or a spinning sensation
- Blurred or lost vision
- Poor coordination
Symptoms may appear on one side of the body or, when the spinal cord is involved, on both. Numbness can spread and may be accompanied by muscle weakness.
The National Institute of Neurological Disorders and Stroke describes MS as “an unpredictable disease of the central nervous system” that can range from relatively mild to significantly disabling, depending on how severely communication between the brain and body is affected. Researchers widely consider it an autoimmune disease.
There is currently no cure for MS, but many people manage the condition with medications, steroid treatments, or, in some cases, chemotherapy‑based therapies designed to calm the immune system and slow disease activity.
Learning to Live With MS
Common tools M.S. patients use to improve their quality of life include wheelchairs, canes, leg braces, and some medical treatments called disease-modifying therapies (DMTs).
A study in American Family Physician found that DMTs “have been shown to slow disease progression and disability; options include injectable agents, infusions, and oral medications targeting different sites in the inflammatory pathway.”
Research published in Frontiers in Neurology last year says autologous hematopoietic stem cell transplantation (AHSCT) (also called bone marrow transplantation, with autologous meaning a patient’s own cells) used for multiple sclerosis therapy helps “reset the immune system.” Several studies and clinical trials using AHSCT have shown promise.
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“In a meta-analysis of published studies using AHSCT for M.S. treatment, the pooled estimated transplant-related mortality was 2.1%, the two-year disease progression rate was 17.1%, the five-year progression rate of 23.3%, and a pooled 83% of patients had no evidence of disease activity at two years. Patients who had the most benefit and the least mortality rate were patients with relapsing-remitting M.S. (RRMS).”
Additional research published by NEJM Journal Watch says that AHSCT helps MS patients reduce relapses better than other forms of MS treatment.
The National Multiple Sclerosis Society outlines the different types of multiple sclerosis:
- Clinically isolated syndrome (CIS) is when an individual experiences a single neurological episode lasting 24 hours or less. CIS is what M.S. is diagnosed as until there is a second episode.
- Relapsing-remitting MS (RRMS): The most common M.S. among the million people battling the disease in the U.S., RRMS is marked by sudden flare-ups, new symptoms, or worsening of symptoms and cognitive function. The condition will then go into remission for some time before reemerging with no known warning signs.
- Primary progressive M.S. (PPMS): These individuals have no flare-ups or remission, just a steady decline with progressively worse symptoms and an increasing loss of cognitive and body functions.
- Secondary progressive M.S. (SPMS): This is an almost transitional form of M.S. that progresses from RRMS to PPMS.
Questions for Your Doctor
If you are diagnosed with MS or are concerned you have the chronic disease due to symptoms you’re experiencing, consider asking your doctor the following questions.
- Although there’s no cure for MS, which treatment option do you recommend to manage my symptoms?
- Are there any potential side effects of MS treatment?
- What if the treatment to manage symptoms doesn’t work?
- Will exercise or therapy help my symptoms?
- Are there any MS support groups you recommend to help me cope?
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