From the Guidelines
The initial workup for multiple sclerosis (MS) should include a comprehensive neurological examination, MRI of the brain and spinal cord with contrast, lumbar puncture for cerebrospinal fluid analysis, visual evoked potentials, and blood tests to rule out MS mimics, as recommended by the most recent guidelines 1.
Key Components of the Workup
- A comprehensive neurological examination to identify signs and symptoms suggestive of MS
- MRI of the brain and spinal cord with contrast to detect characteristic lesions in the periventricular regions, corpus callosum, brainstem, and spinal cord, following the MS protocol 1
- Lumbar puncture for cerebrospinal fluid analysis to look for oligoclonal bands and elevated IgG index, which are present in about 85-95% of MS patients 1
- Visual evoked potentials to detect subclinical optic nerve involvement
- Blood tests to rule out MS mimics, including complete blood count, comprehensive metabolic panel, thyroid function tests, vitamin B12 levels, sedimentation rate, ANA, and specific tests to exclude conditions like neuromyelitis optica (aquaporin-4 antibodies) and MOG antibody disease 1
Importance of Early Diagnosis
Early diagnosis of MS allows for prompt initiation of disease-modifying therapies, which can significantly reduce relapse rates and slow disability progression 1. The comprehensive approach outlined above is necessary because MS diagnosis requires evidence of lesions disseminated in space and time, with no better explanation for the clinical presentation.
Considerations for MRI Interpretation
When interpreting MRI results, it is essential to consider the specific characteristics of each individual lesion, as well as the overall patterns of lesions, to support the diagnosis of MS or other conditions 1. Emerging data suggest that advanced MRI sequences can enhance our ability to distinguish key characteristics of MS, which will likely drive future improvements to current diagnostic criteria.
From the Research
Diagnosis of Multiple Sclerosis
- Multiple sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system characterized by inflammatory demyelination with axonal transection 2.
- Diagnosis is made based on a combination of signs and symptoms, radiographic findings (eg, magnetic resonance imaging [MRI] T2 lesions), and laboratory findings (eg, cerebrospinal fluid-specific oligoclonal bands), which are components of the 2017 McDonald Criteria 2.
- Typical symptoms of MS include discrete episodes ("attacks" or "relapses") of numbness, tingling, weakness, vision loss, gait impairment, incoordination, imbalance, and bladder dysfunction 3.
Diagnostic Tests
- Magnetic resonance imaging (MRI) is critical in MS diagnosis and in predicting long-term disability 4, 5.
- Optical coherence tomography is increasingly being recognised as a highly sensitive tool in detecting subclinical optic nerve changes 4.
- Blood-brain barrier permeability, as measured by magnetic resonance imaging, may provide novel pathological information as a marker of neuroinflammation related to MS 5.
Patient Information and Decision-Making
- Patients with suspected MS want to be informed about a possible MS before testing, and early information about possible MS is warranted by patients and does not show negative side effects 6.
- A patient information leaflet can facilitate shared decision making on diagnostic testing between patients with suspected MS and their physicians 6.
Treatment and Management
- Nine classes of disease-modifying therapies (DMTs) are available for relapsing-remitting MS and secondary progressive MS with activity 2.
- Treatments for MS include high-dose corticosteroids for acute relapses and disease-modifying medications for relapse prevention 4.
- These therapies may also have adverse effects on vision, including central serous retinopathy with corticosteroid therapy and macular oedema with fingolimod 4.