Transcription:
Environmental and Genetic Risk Factors for Multiple Sclerosis

Melanie Cole (Host): Welcome to Back to Health, your source for the latest in health, wellness, and medical care. Keeping you informed, so you can make informed healthcare choices for yourself and your whole face. Back To health features conversations about trending health topics and medical breakthroughs from our team of world-renowned physicians at Weill Cornell Medicine.

I'm Melanie Cole. And today, we're discussing multiple sclerosis awareness. Joining us is Dr. Timothy Vartanian. He's the Chief in Multiple Sclerosis and Neuroimmunology and the Director of the Multiple Sclerosis Center at New York Presbyterian Hospital Weill Cornell Medical Center.

Dr. Vartanian, thank you so much for joining us today. Why don't you give us a little kind of physiology lesson, a working definition? What is MS for the listeners that really don't know?

Dr. Timothy Vartanian: Well, thank you, Melanie, for the invitation. It's a pleasure to be here. MS is a disease of the central nervous system, the brain and spinal cord. It typically affects young adults. Onset is typically between age 18 and 40, and it's characterized by episodes or flares in disease activity followed by long periods of remission. Those flares and disease activity can be anything that the nervous system controls, which is almost everything. So symptoms or flares can involve vision, blurred vision, double vision; motor systems, strength, coordination; sensory systems, special sensory systems, hearing, vision. Balance. So anything that the nervous system controls, symptoms can occur. But they're characterized by discrete or focal symptoms that are separated in time and not only occur in different times, but the episodic nature of MS. The episodes of flares followed by long periods of remission and symptoms occurring referrable to different parts of the nervous system are really the core characteristics of MS. Put in a single sentence, it's often described as a disease in which there are neurologic symptoms separated in time and space.

Melanie Cole: Wow. So that was a very comprehensive definition. Now, doctor, tell us a little bit about why some people get it and others don't. Are there risk factors? Is it genetic? Does it occur more often in certain parts of the world? Tell us a little bit about the risk and who the affected populations mostly are.

Dr. Timothy Vartanian: Well, Melanie, this is really one of the central questions in MS. And we don't have a complete answer to this question. We do know that MS is a complex disease involving genetics and environment. How do we know that? Well, one important piece of information comes from studying identical twins. Identical twins have identical genomes and the risk of a twin having MS, an identical twin having MS if the other twin already has MS is somewhere between 15% and 30%. That means that with an identical genome, if one twin has MS, there's only a one in three, one in six chance that the other twin will have MS. That tells us that genetics are important, but that environment is critical to whether you get MS or don't. Other information comes from epidemiologic studies and there are many epidemiologic studies that look at why some people get MS, who gets MS and where people tend to get MS.

One of the most fascinating epidemiologic studies was conducted by Kurtzke and Hyllested in the Faroe Islands. And what they identified remarkably was that, prior to 1942, there was MS in the Faroe Islands. Following 1942, there was the first of what would be three epidemics of MS in the Faroes. Why is this important? Well, the Faroe islands are a Danish possession, and the people who live on the Faroe Islands are Scandinavian. They're genetically Danish for the most part. The fact that there was no MS and then there was a lot of MS tells us that environmental factors don't just contribute to MS, but are required for the disease to occur. Now in 1942, the British occupied the Faroe Islands during World War II. And so there was probably some new environmental factor introduced at that time. So along with the twin data, the environmental requirement for MS also comes from epidemiologic studies like those conducted in the Faroe Islands.

Melanie Cole: Doctor, as we're talking about people that have MS, what is the average age of onset and what makes women more susceptible or particularly susceptible to getting MS more than men? And and that's true, right? You see it in more women than men.

Dr. Timothy Vartanian: It is true, but it wasn't always true, which is really interesting. And the reason for this is not well understood. MS currently occurs in women about three times more frequently than in men. Most data would say three times more frequently than in men. But in the 1950s and before that, when epidemiologic studies were done, the prevalence of MS in women and men was about equal, one-to-one. So it's changed in a relatively short time period from one-to-one to three-to-one, speaking to some environmental change that is impacting this gender bias that is very well-described in MS now.

The age of onset is typically between late teens and early forties. Although there are exceptions that can occur very, very early in life and diagnoses have been made relatively late in life as well. But most commonly, onset is between, I'd say, late teens and early forties.

Melanie Cole: Doctor, are there differences in MS risk between racial and ethnic populations?

Dr. Timothy Vartanian: Yes. In fact, that is true. MS tends to be more severe in people of black African ancestry, and possibly also in people of Latin ancestry. The data for this comes from numerous studies over the years. But the reason for it has been difficult to understand. At Weill Cornell, we dedicated an effort to understand the basic pathophysiologic principles of why MS might be more aggressive in these populations. And a scientist, Kiel Telesford, at Cornell has shown that it may relate to the frequency of antibody-producing cells within the blood of these patients. But this requires much more research and really dedicated efforts to better understand MS in minority populations and we are really at the forefront of that effort.

Melanie Cole: I'm so glad you mentioned that. It's a really good point. Now, tell us about diagnosis, doctor, because sometimes it's difficult to diagnose and people come up with these symptoms. So I'd like you to speak about the symptoms that might send somebody to see a neurologist in the first place, and why is this a little bit tough to diagnose.

Dr. Timothy Vartanian: Yes, Melanie. That's correct. The symptoms that occur in MS can be quite variable and symptoms include blurred vision in one eye or loss of color vision in one eye, double vision, weakness in one limb, one part of a limb or one side of the body, imbalance, vertigo. And cognitive symptoms can also occur commonly in MS. People with MS will often describe a foggy feeling, a difficulty with concentration. All of these things can occur episodically or can be cumulative. So at first symptom, an individual with MS might go to their primary care physician or to an ophthalmologist or possibly to a neurologist. Oftentimes, there can be a delay in diagnosis if the symptoms that the person is presenting with are not obviously related to MS. There are certain symptoms that are clearly related to MS, optic neuritis, for instance, or something called transverse myelitis that can present as weakness. But oftentimes, the symptoms can be more vague. An individual will present to a primary care physician and there might be a delay before they finally get to a neurologist or, more importantly, an MS specialist.

The diagnosis is made on clinical grounds with use of the MRI. Those are the mainstays of diagnosis. Oftentimes, we also include a spinal tap for spinal fluid analysis, that assists with the diagnosis in instances where there might be some lack of clarity based on clinical presentation or MRI. So clinical presentation, characteristic symptoms, optic neuritis, for instance; characteristic MRI, that is abnormalities on the MRI that look specifically like MS lesions, the shape of those lesions, their location in the brain and spinal cord; and then, spinal fluid showing evidence of an inflammatory process within the central nervous system.

Melanie Cole: I'd like you to tell us, as you're telling us a little bit about treatment options that are available these days, how important managing expectations for patients? I mean, a lot of people hear the diagnosis of MS. They assume that means they're going to be wheelchair-bound. It means that they're going to become disabled. I'd like you to speak about those expectations and just give us a brief overview of some of the exciting treatments that are available now.

Dr. Timothy Vartanian: At the time of diagnosis, a person with MS often feels like they are flooded with information. And this is understandable. It is a lot to take in all at once. I think it's really important for patients to understand that their understanding of MS. Their conception of MS is likely far worse than the illness actually is. It is true for some people untreated, the illness can be quite aggressive, but that's relatively uncommon. For most individuals, in the initial stages of MS, the first eight to fourteen years, the illness is mostly characterized by relapses and remissions. While the relapsing phase of the illness can seem quite manageable, the problem is that with each new lesion, with each new injury to the nervous system, there is some irreversible impact, and that irreversible injury accumulates over time. We think that's what ultimately leads to this diagnosis of secondary progressive MS, which is much more difficult for us to treat.

So the mainstay of treatment is, first, when to treat and all MS specialists agree that patients should be treated early at the time of diagnosis. In fact, we stress early diagnosis because we want to begin treatment immediately, right away at the time of diagnosis. So early diagnosis and early treatment are critical. Why is early treatment critical? Because our current treatments are all preventative in nature. We don't have a group of treatments or we don't have treatment modalities that are really reparative at this time. Because the treatments are preventative, our best chance at preventing permanent injury to the nervous system, our best chance of reducing the likelihood that someone will go on to have secondary progressive MS is by treating them upfront with our best medications. So early treatment prevents injury to the nervous system. And we believe that early intervention will prevent the probability of progressing in the future.

Melanie Cole: So much interesting information to take in, doctor. Tell us as we get ready to wrap up about the multiple sclerosis center at New York Presbyterian Hospital Weill Cornell Medicine, how you're really helping those living with MS, whether it's managing their mental health because as we said, this is something that can be a very, very confusing and scary diagnosis, but a little bit mysterious as well, and how you help them with their physical health and their mental health and the importance of that multidisciplinary approach.

Dr. Timothy Vartanian: Well, the critical aspects of caring for someone who has multiple sclerosis really rests on, I would say, four pillars of care. The first is nutrition; the second, exercise; the third, mental wellbeing; and the fourth, their medication. All of these interact to optimize the care of an individual with MS and their outcome. So I consider them all critically important. At Weill Cornell, we are really blessed with experts in all of these areas. Each clinician, each MS specialist at Weill Cornell has a really expansive knowledge of the illness and how to take care of it. In addition, they have specialty interests in different areas, sub-areas of MS. And I'll just name the caregivers because they're all part of a really fantastic team at Weill Cornell, Dr. Jai Perumal, Dr. Ulrike Kaunzner, Dr. Nancy Nealon and Dr. Susan A Gauthier.

In addition, we have really superb nursing care at the MS Center at Weill Cornell. Many of the MS therapies are infusion therapies, and that requires lot of precision and expertise on the infusion nurse's part. And we're really blessed to have Oasia Holback as our infusion nurse specialist. A lot of MS care requires symptom management, and monitoring certain aspects of the illness that can't be easily monitored during a routine clinical visit. And we're really fortunate to have Stacey Foster, a nurse practitioner, who has MS specialty training as a nurse practitioner, and also has special training in cognitive assessments in MS. So she will perform a cognitive assessment annually on each of our patients. And finally, we have a really great office staff, who understand patient's needs, their fears and the urgency for getting their appointments scheduled promptly and following up with patients, such that they are connected to the multidisciplinary team that works with us. That multidisciplinary team involves neuro-ophthalmologists, urologists, physiatrists, and physical therapists, nutritionists, integrative health and wellbeing and mental health professionals, all of which are on site at our center or at our hospital.

Melanie Cole: Thank you so much. Just a wealth of information, doctor. Thank you so much for joining us and sharing your expertise. And Weill Cornell Medicine continues to see our patients in person, as well as through video visits. And you can be confident of the safety of your appointments at Weill Cornell Medicine.

That concludes today's episode of Back To health. We'd like to invite our audience to download subscribe, rate, and review back to health on Apple Podcasts, Spotify and Google Podcasts. And for more health tips, go to weillcornell.org and search podcasts. And parents, don't forget to check out our Kids Health Cast. I'm Melanie Cole.

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