Using advanced techniques for imaging the brain and eyes, along with new biomarkers, researchers in the Department of Neurology at Cedars-Sinai are working to present a clearer picture of multiple sclerosis (MS). Their work could lead to improved diagnosis and treatment of the disease, in which the body's immune system attacks the brain, spinal cord and optic nerves.
"Multiple sclerosis is a disease that can look very different in different people, and the path to diagnosis is equally varied," said MS specialist Marwa Kaisey, MD, assistant professor of Neurology at Cedars-Sinai. "Diagnosis is complex because many other diseases mimic MS, and while we have a set of diagnostic criteria, there's no single test that is definitive."
Misdiagnosis Is Common
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The immune system in patients with MS attacks the insulating layer that protects nerves. The disruption or loss of these layers results inMarwa Kaisey, MD lesions, which show up as white spots on MRI brain scans-the main tool for diagnosing the condition.
MS lesions disrupt communication within the brain and between the brain and other parts of the body, resulting in vision problems and eye pain, double vision, muscle weakness, trouble with coordination, fatigue, dizziness, and hearing and speech problems. But MS is not the only condition that can cause white spots to appear on an MRI.
"Almost 1 in 5 new patients coming into our clinic with an existing diagnosis of MS turned out not to actually have MS, according to a study that we published in 2019," Kaisey said. "When we talk to other MS specialists about this, they're not surprised. They also see this trend of misdiagnosis."
Kaisey said migraines are the most common cause of non-MS white spots on MRIs. "However, in our past study, among 43 people who were misdiagnosed with MS, we found as many as 27 different conditions actually causing the white spots on their imaging," Kaisey said.
Patients who are misdiagnosed with MS are needlessly prescribed costly immune-modifying treatments that can increase risk for infection, cause organ damage and decrease the effectiveness of vaccines.
"If you have MS, the medications are worth the side effects because they are saving your life and protecting your brain," Kaisey said. "But it's a big deal to be on these medications if you don't need to be."
New Brain Signs
A newly identified biological sign called "central vein sign" could help physicians determine whether white spots on a patient's MRI are caused by MS or by something else, ultimately reducing misdiagnosis.
