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Getting a multiple sclerosis (MS) diagnosis involves more than a simple blood test. Biomarkers are proteins and other biological measurements doctors use to make an MS diagnosis, predict how MS may progress, and guide treatment recommendations.
Testing for MS markers in cerebrospinal fluid (CSF) — the fluid that surrounds the brain and spinal cord — and blood is becoming faster and less expensive than some imaging tests. However, no single biomarker can confirm an MS diagnosis on its own. Instead, doctors use a combination of symptoms, MRI findings, and sometimes CSF or other biomarker test results to make the right diagnosis.
Researchers have identified many biomarkers and continue to study others that may help diagnose MS, monitor disease activity, and predict how well treatments will work. This article covers the biomarkers currently used for MS and those that may become useful in the future.
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Biomarkers provide information about your health and are an important part of monitoring MS. Doctors use a combination of biomarkers, along with your symptoms, to diagnose MS and track disease activity over time.
Imaging biomarkers appear on pictures of your central nervous system (CNS). Liquid biomarkers (also called fluid biomarkers) are found in your blood, urine, or CSF.
Imaging tests are the gold standard for diagnosing MS. Magnetic resonance imaging (MRI) looks for spinal cord or brain lesions. These are areas of damage caused by inflammation.
Doctors use imaging biomarkers — such as new or growing lesions — to monitor MS activity and progression. MRI scans evaluate characteristics of lesions, including:
Newer MRI biomarkers may also help doctors diagnose MS. These MRI findings include:
Doctors may also look for MS-related damage in the optic nerve, which connects the eye to the brain. Tests such as orbital MRI, optical coherence tomography (OCT), and visual evoked potentials can detect changes associated with MS and may help support an early diagnosis, especially in people with optic neuritis.
MRI scans can help guide treatment decisions and monitor how well disease-modifying therapies (DMTs) are working. Doctors compare MRI scans taken before and after treatment to look for new or enlarging lesions over time.
In some people, MRI detects MS-like lesions before symptoms develop. This is called radiologically isolated syndrome (RIS). Certain MRI findings, together with other biomarkers such as positive CSF results, may help identify people with RIS who are more likely to develop MS.
DMTs treat MS and can slow disease progression. In rare cases, the immune system makes neutralizing antibodies that attach to and block the medication, making it less effective.
Your doctor may test for neutralizing antibodies if you’re taking certain DMTs, such as natalizumab (Tysabri). If these antibodies are present, your doctor may recommend switching to a different medication.
Antibodies are proteins made by the immune system to help fight infections. In MS, certain antibodies found in the CSF can serve as biomarkers.
More than 90 percent of people with MS have elevated levels of intrathecal immunoglobulin G (IgG) in their CSF. IgG testing can measure antibody levels or look for oligoclonal bands (OCBs). A positive OCB test indicates inflammation in the CNS and can help support an MS diagnosis.
Researchers are also studying whether OCBs and IgG levels can help predict disease progression. Some studies suggest that people with more OCBs tend to have more brain or spinal cord lesions. Higher CSF IgG levels have also been linked to higher Expanded Disability Status Scale (EDSS) scores, although more research is needed to understand this relationship.
Kappa-free light chains (kFLCs) are proteins made along with IgG antibodies. Measuring kFLC levels can help diagnose clinically isolated syndrome (CIS) and MS.
The updated McDonald criteria recognize kFLCs as a biomarker that can support an MS diagnosis. Testing for kFLCs is generally easier and cheaper than testing for OCBs.
Higher kFLC levels may also help predict disease progression and identify people with CIS who are more likely to develop MS.
Neuromyelitis optica spectrum disorder (NMOSD) is a neurological condition that can be mistaken for MS. Testing for antibodies against a protein called aquaporin-4 can help distinguish NMOSD from MS.
Many (but not all) people with NMOSD have aquaporin-4 antibodies, while most people with MS do not. Identifying these antibodies can help doctors make the correct diagnosis and start the most appropriate treatment sooner. Some DMTs make NMOSD symptoms worse, making an accurate diagnosis especially important.
Researchers continue to look for better ways to diagnose and monitor MS. Several new biomarkers are being studied and may become part of MS care in the future.
Neurofilament light chain (NfL) is a protein released when nerve cells are damaged. Blood and CSF tests can measure NfL levels, which may help support an MS diagnosis.
High NfL levels can indicate ongoing nerve damage in people with MS. NfL levels may rise before MS symptoms even start and may stay high as the disease progresses. Because NfL can be detected early in the disease, measuring this biomarker may lead to an earlier diagnosis.
Doctors may also use NfL levels in the future to monitor how well MS treatments work. Research shows that treating relapsing-remitting MS leads to a drop in NfL levels. These tests may be helpful for finding out which DMTs are best for managing MS.
Glial fibrillary acidic protein (GFAP) is found in astrocytes (supportive cells in the CNS). When astrocytes are damaged by inflammation, they release GFAP into the CSF and bloodstream.
Researchers are studying GFAP as an MS biomarker. Higher GFAP levels have been linked to disease progression, disability, and retinal thinning in primary progressive MS and relapsing-remitting MS.
Researchers are also learning how GFAP fits in with other biomarker testing. Early studies suggest that GFAP may help predict MS progression, while NfL may better show who’s likely to experience relapses.
Inflammation from MS can also damage the optic nerves, which carry visual information from the eye to the brain. Researchers have found that thinning of the retinal nerve fiber layer and other changes seen on eye imaging may act as biomarkers. These changes may point to damage in the brain and spinal cord.
Newer MS diagnostic guidelines include optic nerve involvement as one finding that can support an MS diagnosis. Optical coherence tomography takes highly detailed pictures of the retina and optic nerve. OCT can help show optic nerve damage, along with other tests such as orbital MRI or visual evoked potentials.
If you have questions about your MS biomarkers or what they mean, talk to your doctor. They can explain how your test results fit into your diagnosis, disease activity, and treatment plan.
If you’re interested in participating in a clinical trial of new MS biomarkers, ask your doctor whether you may qualify for a study in your area. Clinical trials help researchers learn more about MS and may give participants access to emerging diagnostic tools or treatments.
On MyMSTeam, people share their experiences with multiple sclerosis, get advice, and find support from others who understand.
How has biomarker testing helped diagnose and monitor your MS? Share in the comments below.
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