Podcast Summary: MS Living Well – Diagnosing Multiple Sclerosis
Host: Dr. Barry Singer
Guests: Dr. Leora Freeman, Professor Xavier Montauban
Date: September 10, 2024
Overview
This episode of MS Living Well focuses on the complexities of diagnosing Multiple Sclerosis (MS). Dr. Barry Singer leads conversations with two global MS experts—Dr. Leora Freeman and Professor Xavier Montauban—covering early symptoms, diagnostic challenges, advanced MRI techniques, evolving diagnostic criteria, and the future of MS diagnosis. The episode aims to educate patients and clinicians on early identification, the importance of accurate diagnosis, and the evolving landscape of MS biomarkers and technologies.
Key Discussion Points & Insights
1. Diversity of Initial MS Symptoms
[02:09] Dr. Barry Singer asks: What are the first symptoms that might indicate someone has MS?
- Dr. Freeman explains that MS can affect any part of the central nervous system (optic nerve, brain, spinal cord), leading to a wide range of symptoms:
- Visual changes (e.g., optic neuritis, with vision loss and pain)
- Sensory changes (numbness, tingling)
- Motor symptoms (typically asymmetric leg weakness)
- Dizziness, imbalance, double vision
- Vital take-home: MS presentations are highly variable and can easily be overlooked.
“The key is to remember that it's a condition that can present in many different ways.” – Dr. Leora Freeman [02:15]
2. Relapses and Progressive Disease
[03:27] The majority (85%) of MS patients start with a relapsing course; 10–15% have progressive onset.
- Dr. Freeman clarifies a relapse as:
“New neurological symptoms or the return of old symptoms for a period of 24 hours or more in the absence of an infection or a significant change in body temperature.” [03:38]
- True progressive MS is rare at onset but assessment must be thorough as not all symptoms fit neat categories.
- Hidden symptoms (fatigue, brain fog) may delay diagnosis.
3. Diagnostic Process—Neurological Exam and MRI
[05:44] Dr. Singer: How does neurologic examination help?
- The neuro exam helps localize symptoms to specific CNS areas, guiding further tests.
“It’s always our starting point.” – Dr. Leora Freeman [06:47]
[07:11] MRI as Key Test:
- Brain and spinal cord MRI is most informative.
- Look for “bright spots” (lesions) in classic MS locations (near ventricles, cortex, spinal cord).
- Use of gadolinium contrast can identify active (new) vs. old lesions.
- Pitfall: Imaging the wrong part (e.g., lumbar spine instead of thoracic) may miss diagnosis.
“Multiple sclerosis, again, is a disease of the central nervous system. So we need to make sure that we image areas that help us.” – Dr. Leora Freeman [08:02]
4. Differential Diagnosis—White Matter Lesions
[10:12] Dr. Singer: Are there other causes for white matter lesions?
- There are at least 27!
- Most common: small vessel disease (older adults with cardiovascular risk factors), migraines.
- Other autoimmune conditions: lupus, vasculitis, neuromyelitis optica, MOG disorders, Sjogren’s, sarcoidosis.
- Sometimes, it's ambiguous if a person has MS or age-typical white matter changes:
“Sometimes it's a very legitimate answer to not know.” – Dr. Leora Freeman [12:57]
5. Risks of Misdiagnosis and the Need for Biomarkers
[13:13] Modern therapies are highly immunosuppressive, so starting treatment without a confident diagnosis is less safe than in the past.
“That’s one more reason why it’s so encouraging to see novel biomarkers being studied so that we can feel more safe in the diagnosis.” – Dr. Leora Freeman [13:38]
Memorable Quotes & Moments
6. Novel Biomarker – Central Vein Sign
[14:02] Dr. Singer: New MRI-based biomarker: the central vein sign.
- Dr. Freeman:
“MS lesions tend to form around tiny veins... scientists have developed new MRI techniques that can allow us to look at the central vein sign on MRI scans. We're hoping that this will help with misdiagnoses and also help with delays in diagnosis.” [14:16]
- Not all cases are clear-cut, but this may help with ambiguous diagnoses.
7. Spinal Tap (Lumbar Puncture)
[16:07] Dr. Singer and Dr. Freeman discuss lumbar puncture:
- Looks for oligoclonal bands, evidence of inflammation in CNS.
- Not always necessary if MRI and clinical picture are clear.
- Main risk: post-lumbar puncture headache, treatable with “blood patch.”
“I don't do spinal taps on everybody. Sometimes the clinical presentation is very clear, the MRI is very clear. But in some cases, it can give us a clearer picture.” – Dr. Leora Freeman [16:25]
8. Visual Evoked Potentials – Less Common Today
[18:11] Used to measure brain’s response to eye stimulation, useful for detecting damage to optic nerve, now less used due to advances in MRI.
Segment: Key Diagnostic Criteria & Evolution (w/ Prof. Xavier Montauban)
9. Importance of Early & Accurate Diagnosis
[21:37] Early diagnosis significantly improves long-term outcomes.
“Since we decreased by 77% the median time from first symptom to MS diagnosis, the probability of reaching an EDSS of 3 or higher at the age of 40 decreased from 0.86 to 0.2.” – Prof. Xavier Montauban [21:37]
10. Changes in Diagnostic Criteria
[22:52] Prof. Montauban describes the evolution:
- Dissemination in space: Evidence of deficits/lesions in at least two CNS locations.
- Dissemination in time: Evidence of more than one attack or new MRI lesions over time.
“Dissemination in time... is, in my opinion, an old-fashioned statement. Right? ... Our goal is not to have relapses or new lesions. Hopefully this will be different in the new revision.” – Prof. Montauban [23:08]
Criteria Timeline Highlights:
- 1983 Poser Criteria: Required two separate relapses, no MRI.
- 2001 McDonald Criteria: Incorporated MRIs.
- 2010 revision: Allowed a single scan with both enhancing/non-enhancing lesions to demonstrate time.
- 2017 revision: Added CSF oligoclonal bands as diagnostic evidence.
11. Clinically and Radiologically Isolated Syndromes
- CIS (Clinically Isolated Syndrome): First symptom suggestive of MS, sometimes w/ normal MRI.
“CIS is just the definition and nothing else.” – Prof. Montauban [25:02]
- RIS (Radiologically Isolated Syndrome): MS-typical lesions on MRI with no MS symptoms.
“Now in the new revision of the McDonald criteria...some of the RIS patients...will be considered multiple sclerosis and I think this is important as well.” [29:12]
12. Artificial Intelligence in Diagnosis
[31:53] Dr. Singer: Can AI improve diagnosis?
- Prof. Montauban: Particularly beneficial in settings lacking expert radiologists/neurologists.
“Having a good AI validated program may help... I think this is going to be one area of research.” [32:15]
Practical Tips & Resources
13. Post-Diagnosis Support
[19:00] Dr. Freeman: Stress on “building the village” for patients:
- Trustworthy healthcare team.
- Reliable MS information (National MS Society, MS Association of America resources).
- Community support groups.
Timestamps for Key Segments
- Early Symptoms and Diagnostic Challenges: [02:15]–[05:44]
- MRI and Neurological Exam Discussion: [07:03]–[09:52]
- Differential Diagnosis of Brain Lesions: [10:12]–[12:24]
- Biomarkers & Central Vein Sign: [14:02]–[15:38]
- Lumbar Puncture in Diagnosis: [16:07]–[17:48]
- Diagnostic Criteria Evolution: [21:37]–[28:58]
- Clinically/Radiologically Isolated Syndrome: [25:02]–[30:05]
- Artificial Intelligence in Diagnosis: [31:53]–[32:43]
Notable Quotes
- On Early Diagnosis:
“By anticipating and facilitating the diagnosis of multiple sclerosis, we are now improving the prognosis in the long term. That's very clear.”
– Prof. Xavier Montauban [21:37] - On Limits of Technology:
“Not every white spot in the brain is going to be multiple sclerosis.”
– Prof. Xavier Montauban [27:15]
Conclusion
The episode underscores the need for heightened clinician awareness, advanced diagnostics, and partnership with patients to ensure early and accurate MS diagnosis. The show highlights the promise of emerging biomarkers and artificial intelligence, the nuances of MRI interpretation, and the evolving diagnostic criteria—all striving for one goal: optimizing the future for people living with MS.