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Melanie Cole: 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 family. 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 joining me today is Dr. Matthew Fink. He's the Louis and Gertrude Feil Professor and Chairman in the Department of Neurology at Weill Cornell Medical College and Neurologist-in-Chief at New York Presbyterian Hospital, Weill Cornell Medical Center. And he's here to tell us about CADASIL and raise awareness for this rare condition.

Dr. Fink, it's a pleasure to have you join us as always, you're a great guest. Can you start by telling us a little bit about this rare condition called CADASIL.

Dr. Matthew Fink: Well, certainly. Thank you for asking. CADASIL is a name, which is an acronym for a very long and complicated medical name that I'm not going to describe. But what it is, it is a cause for a type of stroke, which is inherited, and it's a very rare disorder. But because it is inherited, it creates a tremendous amount of fear and anxiety among the general public, because stroke is the major cause of disability. It's one of the worst things that can happen to someone. And as someone hears that it's a stroke that can be inherited to other family members, children and grandchildren, it creates a tremendous amount of fear and anxiety.

Melanie Cole: Well, if it's inherited, tell us a little bit about what that means because it certainly does instill a lot of fear. And many genetic disorders, we have tests for, and they can get a genetic test to see if you're more at risk. Tell us a little bit about what that means when you say it's inherited.

Dr. Matthew Fink: Sure. Well, for CADASIL, it's inherited in a form which we call autosomal dominance. And what that means is that if you as a parent have a stroke caused by CADASIL, and we'll talk about what that means to the person who has it, your children have a 50% risk of inheriting that gene. And that is a serious problem, as you can well imagine.

And the other difficulty is that the person who develops a stroke from CADASIL will be, at the youngest, probably in their 30s. Now, that's quite young to have a stroke as you know. Most people who have strokes are over the age of 60. But even in the 30s, many people have already had children at that age. So, you're faced with a real dilemma that you have this disease, which causes strokes, and it's inherited at a risk of 50% and you already have children, my goodness, what do you do with that one?

Melanie Cole: What do you do with that one? So, tell us about CADASIL itself in the affected patient. Does it manifest itself in stroke symptoms the way that ischemic or any other type of stroke might manifest itself, or is it a little bit different?

Dr. Matthew Fink: It is a little bit different. So, most patients with CADASIL, when they are young, will have migraine headaches, but the type of migraine headaches that have a visual aura, what we call migraine with aura, which is a common form of migraine headache that is not connected with CADASIL. So, just as an aside, when I see people who have migraine headaches with aura, I will quietly investigate without even bringing it up to make sure that they don't have something like CADASIL. And I won't bring it up with them because I don't want to scare them, and the vast majority of them will not. But migraine with aura is sort of the earliest symptom that patients with CADASIL develop. And then, the condition affects the very small blood vessels in the brain. And as a result of that, the ischemic strokes that occur are tiny little ischemic strokes, which in the beginning may be silent. They may not cause stroke-like symptoms. And the stroke-like symptoms we're talking about are sudden weakness, sudden numbness, loss of balance, loss of vision. So, many of these patients will not have those symptoms, but they will accumulate these tiny little strokes in the brain over a period of years, and that actually results in impairment of memory and cognitive function. And so, a lot of these patients go to see their doctor thinking that they may have something like Alzheimer's disease or another type of neurodegenerative disorder, when in fact their problem is being caused by a series of little strokes.

Melanie Cole: Which is why it's so important for us to do podcasts like this about awareness. Because for years, right, people would go to their doctors and, as you say, it could have been misunderstood as MS or other neurological diseases. So, tell us a little bit about once we know what's going on, are there for the symptoms or supportive care.

Dr. Matthew Fink: I'm glad you brought up the issue about MS because I think, in the past, this condition was often misdiagnosed as MS because of the multitude of spots in the white matter that we see on an MRI. And at first glance the doctor will say, "Oh, this is multiple sclerosis." In my own practice, I've seen patients where I know they have CADASIL and we'll talk about how to make that diagnosis. I know they have CADASIL, I send them for an MRI because they're having some symptoms and the report comes back to me consistent with multiple sclerosis, and I know that they don't have multiple sclerosis. So, it is a tricky situation for patients and for doctors as well.

Melanie Cole: Well then, speak about how you make that definitive diagnosis.

Dr. Matthew Fink: Sure. Well, the first thing is we always want to start with the symptoms. So if someone has small little ischemic strokes that we see on their scans, they have a history of migraine with aura, and then they're developing cognitive impairments, we can then do a genetic test on them. There is a gene test we can do, which is a blood test, and that can definitively tell us whether or not we're dealing with CADASIL. And that has made the diagnosis easy, but you have to think about it and you have to do the test.

Now, if there's a strong family history, sometimes we can make that diagnosis even without the test. And that's what we did in the past before we had the test if there was a parent that had this and then children had it, and sometimes we could follow it through multiple generations. But it can become more difficult because a significant number of patients with CADASIL have what is called a spontaneous mutation. That means they did not inherit it from a parent. They developed it themselves during their own life. Well, how does that happen? Well, it's an interesting problem, but there are lots of spontaneous mutations that develop through life. Most of them are meaningless, but in CADASIL, it's obviously an important one. So a lot of spontaneous mutations, so the blood test becomes very important.

The other way we can diagnose it is we can look at the small blood vessels in the skin of the patient. Remember I mentioned that the disease affects the small blood vessels in the brain, it also affects the small blood vessels in the skin, and it's very easy for us to do a skin biopsy. And I've made the diagnosis in patients from a skin biopsy, even without having the blood test in front of me. But the blood test makes it very easy to make a diagnosis, assuming the doctor thinks about it and orders the test.

Melanie Cole: Dr. Fink, you are something else. What a brilliant man you are, and so kind to boot, you know, and you're really a great educator. Now, tell us about what you do for patients of this rare condition and speak a little bit about the prognosis. I know we don't always like to say about prognosis, but the resulting effects of this disease.

Dr. Matthew Fink: Sure. So because it's such a rare disease and, in fact, we don't know exactly how many people there are in the world with this, the latest numbers indicate that about a thousand families have been identified around the world, that's a very small number. I'm sure it's more than that. I'm sure there are patients that have not been diagnosed. But if we do diagnose it early and our best hope of doing that is within a family-- I'll give you an example. I have a patient that I diagnosed who was in the 60s when she first came to see me. She has four children, three sons and a daughter. And I met with the entire family, the children were in their 30s and 40s at the time, and explained to the family what was going on, and all of the children were healthy. And I suggested that they might want to have genetic testing to find out if they were carrying the gene. And at that time, none of them wanted to have the genetic testing done. They basically said, "Well, we'll take our chances." the daughter already had children and the three sons did not at the time. So, years passed and the three sons started to develop symptoms and they had become married by then and then, they wanted to have children, so then they became interested in the diagnosis.

And so, what did we do? And this is actually a good news story and it tells you why it's important to make an early diagnosis. We were able to help the sons in their planning to have a family to avoid transmission of the gene, because the science of fertilization has advanced so well that our team was able to identify individual sperm in these men that carried the gene or did not carry the gene. And therefore, their wives were able to go through in vitro fertilization with sperm that did not carry the gene, and therefore they were able to have perfectly healthy children who did not have the disease.

So to me, this is about the best thing that could ever happen in a condition like this. And it requires a team effort, not just a neurologist, because I don't know anything about how you do in vitro fertilization, but we have a great team that was able to do that. So, it's a wonderful, wonderful story. And then fortunately, the daughter who already had children did not have the gene. She was lucky enough to not carry the gene, so her children were not at risk.

Melanie Cole: Thank you for sharing that. That is a good news story. I love to hear things like that. So as we're getting ready to wrap up here, what would you like the key takeaway to be? This is a rare condition, but it is in the neurologic disorder realm. So obviously, you are somebody who works with people that are dealing with this condition. Tell us a little bit about what life is like for them, what you can do for them, and give us your best advice for people that are interested.

Dr. Matthew Fink: Well, it's quite variable and I have some patients who have a very mild form of the condition and they live a perfectly normal life. And they're well into their 70s and 80s now, and they're doing well. I have other patients who are not doing well. And how we treat them is as soon as we make a diagnosis, we begin to give them treatments to deal with all of the risk factors that we know are important to prevent a stroke. So, we're extremely aggressive at treating their blood pressure, at treating their cholesterol. We focus very much on diet. We focus on regular exercise, which is extremely important, and we look for everything that we can do to reduce their risk of having a stroke.

And it helps for many people. Unfortunately, there's some people that have a particularly bad form of the condition and it doesn't help them very much, but I believe that most of these patients benefit from the treatments. And then, as I mentioned earlier, we certainly can do a lot to prevent the transmission of the condition to subsequent generations.

Melanie Cole: Thank you so much, Dr. Fink. What a great guest you are as always. Thank you for joining us and sharing your incredible 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 Podcast, Spotify and Google Podcast. 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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