InforMS: Summer 2019

InforMS Summer 2019 coverDiagnosing MS

What's New, What's Changed, and How the Pieces Fit Together.

Diagnosing Multiple Sclerosis

By Peter Broderick | It’s often a long, stressful road to a diagnosis of multiple sclerosis. While technology and medical techniques have certainly advanced in recent years, the diagnosis process still involves collecting a lot of information and putting those pieces together to get the big picture.

Despite the many advancements in our understanding of MS, there’s still no single symptom, or clinical observation, or laboratory test that can determine if you have it. Early symptoms, initial doctor visits, and observations and tests are all pieces of the puzzle that have to be put together.

How we collect and use that information has changed, and in most cases that’s made diagnosing MS a faster and more accurate process. But the reality is that the brain and central nervous system are complicated things, and there are countless possible causes for various neurological symptoms. When we diagnose MS, we’re not only looking for signs of the disease itself, but we’re also looking to rule out a host of other conditions.

In this issue we’ll go through a typical path of diagnosis, from the earliest symptoms to the final determination. We’ll also look at what neurologists are looking for, how they find it, and the guidelines they use for putting it all together — and how that’s changed over time. Finally, we’ll see what’s on the horizon and how research at the Rocky Mountain MS Center at CU may someday change the way we diagnose MS.

The Process of Diagnosis

Finding a 'Typical' Presentation in a Disease that's Anything But Typical

If you’re reading this, you or a loved one probably have direct experience with receiving an MS diagnosis.

And you probably know that diagnosing MS isn’t easy. There’s no one “typical” presentation, or normal set of symptoms that indicate with certainty that someone has MS. In this article we’ll illustrate a typical diagnosis process — to the extent that we can — understanding this won’t be a perfect description of anyone’s personal experience.

Most people start their diagnosis journey at the first onset of symptoms, by visiting their primary care physician or, if the symptoms are severe enough, a local emergency room.

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Time is Brain: Early Diagnosis is a Critical Factor in MS

In the past, diagnosing MS took a long time. Collecting the evidence that leads to diagnosis was based mostly on making clinical observations — keeping track of common MS symptoms, or seeing your doctor when you’re experiencing an acute MS exacerbation.

The diagnosis criteria at the time required “Dissemination in Time” between seeing evidence of MS. In practice, that simply meant waiting for symptoms to get much worse, or for someone to have a second or even third exacerbation.

Today we understand that the time passing while collecting this evidence for diagnosis is perhaps the most critical time for MS patients. To borrow a phrase common in the field of stroke, “Time is Brain.”

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When Diagnosis Gets Complicated

Despite New Technology and Guidelines, Diagnosing MS isn’t Always Straightforward

The RMMSC’s Dr. Amanda Piquet specializes in MS and other autoimmune neurological disorders. We spoke to Dr. Piquet to get her perspective on diagnosing particularly complicated cases.

InforMS: When you see a patient for the first time, who either comes to you as a referral or comes to you without a diagnosis yet, where do you start and where do you go through to get to the final diagnosis?

Dr. Piquet: Often when patients come in and we are looking to make a diagnosis, I think it’s important to go through the clinical history first and understand all of the symptomology that the patient is experiencing. For me in particular, sometimes just the nature of my clinic given my area of expertise of other autoimmune diseases, I have patients that don’t fit nicely into the box of Multiple Sclerosis. Sometimes we need to explore other etiologies like rheumatologic disease and other autoimmune diseases that affect the central and peripheral nervous system. That’s where I rely a little bit more heavily on understanding patients’ personal and family history of other autoimmune diseases, not just asking about MS, but asking about autoimmune thyroid disease, lupus, rheumatoid arthritis for example. I also focus on additional symptoms that could be related to systemic rheumatologic disease, rather than isolated neurological symptoms, that could perhaps provide a clue.

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MS Before Adulthood: In Rare Cases, MS Can Be Diagnoses in Children

Dr. Teri Schreiner’s work in MS is focused on the rarest of patients: children. The vast majority of newly-diagnosed patients are roughly between the ages of 25 and 45, but MS can and does appear at a much younger age. We talked with Dr. Schreiner about the differences in diagnosing those under the age of 18.

InforMS: We wanted your unique perspective on diagnosing the pediatric population — recognizing that MS is likely the same disease process in children and adults, but there are some distinctions.

Dr. Schreiner: There are many similarities between how kids and adults come to a diagnosis of MS. What makes diagnosing a child with MS challenging is that it’s such a rare condition in childhood. So when a child presents with a focal neurologic finding, there are other things that are thought of more readily because they are more common in childhood than in adults. Oftentimes MS is only the third, fourth or fifth consideration of what might be causing that child’s neurologic deficit.

Historically, I think that has been even a greater obstacle to overcome because pediatric MS wasn’t recognized as readily. Now we are recognizing it more, but it’s still so uncommon that it’s not at the top of anybody’s mind when evaluating a child with a neurologic deficit.

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