From the Guidelines
The workup for multiple sclerosis (MS) should include a comprehensive neurological examination, MRI of the brain and spinal cord with and without contrast, and blood tests to rule out MS mimics, as these are crucial for achieving a prompt and accurate diagnosis 1. The diagnosis of MS is based on the detection of lesions within the CNS that demonstrate dissemination in space (DIS) and dissemination in time (DIT), and the current diagnostic criteria require exclusion of alternative diagnoses that can mimic MS either clinically or radiologically 1. Some key points to consider in the workup for MS include:
- MRI should focus on identifying characteristic demyelinating lesions in periventricular regions, corpus callosum, brainstem, and spinal cord 1
- Blood tests should include complete blood count, comprehensive metabolic panel, vitamin B12, folate, thyroid function tests, ESR, CRP, ANA, and specific antibodies like NMO-IgG to exclude other conditions
- The McDonald criteria guide diagnosis, requiring demonstration of lesions disseminated in space (multiple areas of the CNS) and time (new lesions developing over time) 1
- Early diagnosis is crucial as prompt initiation of disease-modifying therapies can significantly slow disease progression and reduce relapse rates
- The choice of initial therapy depends on disease severity, patient characteristics, and risk tolerance for potential side effects It is also important to note that the 2010 McDonald criteria have substantially improved the diagnostic process in relapsing–remitting MS (RRMS), but they exhibit a number of limitations in primary progressive MS (PPMS) 1. In challenging situations, both the specific characteristics of each individual lesion as well as the overall patterns of lesions should be taken into account to support the diagnosis of multiple sclerosis or other conditions 1. Emerging data suggest that advanced MRI sequences can enhance our ability to distinguish key, previously established characteristics of multiple sclerosis that will enhance diagnosis because they are highly specific 1.
From the Research
Multiple Sclerosis Workup
The workup for multiple sclerosis (MS) involves a combination of clinical history, neurologic examination, magnetic resonance imaging (MRI), and exclusion of other diagnostic possibilities 2.
Diagnostic Criteria
The diagnosis of MS is based on demonstrating evidence of inflammatory-demyelinating injury within the central nervous system that is disseminated in both time and space 2. The 2017 McDonald Criteria include a combination of signs and symptoms, radiographic findings (e.g., MRI T2 lesions), and laboratory findings (e.g., cerebrospinal fluid-specific oligoclonal bands) 3.
Key Investigations
- Magnetic resonance imaging (MRI) of the brain and spinal cord is essential for an MS diagnosis 2, 3, 4.
- Lumbar puncture to examine cerebrospinal fluid (CSF) for oligoclonal bands (OCB) is a key investigation 5, 3, 4.
- CSF OCB are detected in more than 95% of patients with MS and provide powerful evidence for the diagnosis of MS 5.
Clinical Presentation
Typical symptoms of MS include:
- Discrete episodes of numbness, tingling, weakness, vision loss, gait impairment, incoordination, imbalance, and bladder dysfunction 2.
- Fatigue and heat sensitivity 2.
- Insidious worsening of neurologic function and accumulation of disability ("progression") that is not associated with discrete relapse activity 2.
Differential Diagnosis
The differential diagnosis includes other inflammatory central nervous system disorders 4. A positive test for a putative MS "mimic" does not exclude the diagnosis of MS 2.
Advanced MRI Features
Relapsing MS patients with and without CSF OCB share similar MRI features regarding volumetric analyses and DTI microstructural integrity 6. However, the OCB-positive group had a higher proportion of cerebellar lesions and significantly higher mean diffusivity (MD) value in perilesional normal-appearing white matter 6.