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Dr. Tarbox: Hello, and welcome to "Skincast," the podcast for people who want to learn how to take the very best care of the skin they're in. My name is Michelle Tarbox, and I'm an associate professor of dermatology and dermatopathology in beautiful, sunny Lubbock, Texas at Texas Tech University Health Sciences Center. And joining me is . . .

Dr. Johnson: Hey, this is Dr. Luke Johnson. I'm a pediatric dermatologist and general dermatologist with the University of Utah in Salt Lake City.

Dr. Tarbox: Today, we're going to talk about a topic that can affect a certain number of patients. We're going to speak about vitiligo.

Dr. Johnson: Yes. We thought it might be a good idea to have a few episodes on some fairly common dermatologic diseases though most people still don't get these. But vitiligo affects about 1% of people, which means that if you pulled 100 random people and looked at them all, one of them would have this condition.

Dr. Tarbox: So it's actually relatively common in the general population. And if you personally don't have it, and there's nobody in your family that's experienced vitiligo, you probably know somebody in your friend circle that does. So it's something that is relatively common, and we have a lot of good information about it.

Dr. Johnson: So vitiligo is white spots showing up on the skin. And we'll talk a little bit more about it. Some people call it the Michael Jackson disease. Michael Jackson did indeed have this condition. There are other celebrities who have it as well, including Jon Hamm, the actor who played Don Draper in "Mad Men" and also does some funny stuff on "30 Rock" and so on, Rasheed Wallace, an NBA player, and Winnie Harlow, a model.

I like to talk about the celebrities who have some of these conditions because I think it just makes it a little bit more fun, and it shows that people who have these conditions can obviously still achieve great things. And also the celebrities have done a good job of bringing attention to the condition and have sometimes been good spokespeople for it.

Dr. Tarbox: Yeah. Winnie Harlow, especially, has been a great spokesperson and has embraced the unique beauty of her unique skin. I think recently there was also a Barbie doll released that had vitiligo. So I think that there's more general acceptance of the skin condition. But a lot of people want to know more about it and how to treat it if they would like.

Dr. Johnson: So in your skin, you have a bunch of different kinds of cells, like a surprising number of different kinds of cells. But the majority of them are probably keratinocytes, which are the cells that make up most of the skin that we can see from the outside. And then there are melanocytes in there, and the melanocytes are the pigment-producing cells. So they make little tiny balls of pigment called melanosomes, which they share with a bunch of different keratinocytes. And sort of the number and size and darkness of those melanosomes determines how dark your particular skin is. And also if you have a whole clump of those melanocytes together, you have a mole. And in vitiligo, your immune system attacks those melanocytes and gets rid of them, which is why you then get a pale white spot, which just has no pigment at all.

Dr. Tarbox: Now, a lot of patients want to know why this happens. And that's a great question. We don't 100% know the answer to that. We know that there are some genetics that can predispose patients to developing vitiligo. We know sometimes vitiligo will happen after intense sunburn or after a period of severe stress, but often it just comes up on its own. What do you find in your practice, Luke?

Dr. Johnson: Well, a lot of autoimmune diseases are like this, and we do consider vitiligo an autoimmune disease. So there's a certain amount that medical science understands. It's your immune system attacking a part of your body that it's not supposed to. But we don't understand why it happens. And the way I describe it to my patients is often, well, we think there's something about your genes that puts you at risk for it, and then something triggers those genes to become active. And we don't really know what that trigger is in any particular case. We like to blame viruses a lot, just like a normal viral cold or infection, potentially significant psychosocial stress or significant physical stress, like some other underlying medical condition or going through a surgery or something like that, potentially. All of those, we think can potentially trigger it.

And I think it's also important to know that even though there's a genetic component, it's common for only one person in a family to be affected. So sometimes, you know, I'll explain this, and patients will say, "Well, nobody in my family has this." And well, that's actually pretty common because it's probably, you know, 20 different genes plus some kind of triggering event that all create the perfect storm for vitiligo in a particular individual.

Dr. Tarbox: Very occasionally, certain specialized medicines can also cause vitiligo to arise. Those are typically medications that are prescribed by a physician to treat either a type of cancer or a different autoimmune condition, things like a topical medicine called imiquimod or some of the medicines that are newer injectable agents that people use for psoriasis, for example.

Dr. Johnson: And, Michelle, you mentioned that a sunburn could potentially trigger it. And we know that vitiligo expresses this phenomenon where it shows up at sites of injury. There's a special word for that in medical world. It's called koebnerization I think because Dr. Koebner must have described it well, probably back in the 1800s or something. So if people with vitiligo get, like, a big scratch on their leg or something, they might discover that that line becomes vitiliginous, as we say, it turns white. And so if you have vitiligo or know somebody who has it, then you want to watch out for injury if you can.

And also, you mentioned sunburn. So those areas of pale skin that have no pigment at all, as you might guess, they're extra susceptible to sunburn. And if they get sunburned, well, the surrounding area can then koebnerize and make the whole thing worse. So be careful about the sun to at least some degree.

Dr. Tarbox: And apparently, it was Heinrich Koebner who named up the Koebner phenomenon, if anyone was just dying to find that out.

Dr. Johnson: Not his brother Reginald Koebner.

Dr. Tarbox: Yes. Not Reginald Koebner, but Heinrich Koebner. In the 19th century, he named the phenomenon. And then I think that, you know, that koebnerization, that homing of this condition to sites of trauma explains to us why it likes to happen in some of the places where it likes to happen, like the tips of the fingers or on the knees, the skin in the groin where the clothing might rub, and then areas around the face that are touched a lot or move a lot, like the eyelids and the mouth.

Dr. Johnson: So one question might be how to treat it. I think it's important to know that this is not a medically dangerous condition. So there are some people who are very, very bothered by the appearance. And there are medical studies that can say it can significantly affect somebody's quality of life, and it should certainly be treated in those cases. There are other people who just don't care about it. And then there are other people who kind of like the way it looks, like perhaps Winnie Harlow, and they wear it loud and proud.

So treatment might not be necessary from a medical standpoint, depending on the individual's preference and that of their family, especially if they're a child. But the longer vitiligo sticks around untreated, the more likely it is to not respond to treatments in the future. So I find that I run into this with my, like, 5 and 6-year-old patients who just really don't care at all, and their family doesn't really care either because it doesn't bother the patient. But, if when that child is 14 or 15, they wish they had pigment, then everybody kind of wishes they had treated it 10 years prior. So I find that families often like to treat it for that reason.

Dr. Tarbox: Yeah. And this is a more complex thing to navigate. Now, I've actually run into this recently where I was taking care of a new patient that was a young teenager who had vitiligo, and she actually liked how unique it made her. And when we talked about it, we discussed the fact that, you know, treatment is a good idea. It's not often 100% successful. So she would likely still have some of her special, unique skin, but treating it so that most of her skin was still protected from the sun, especially here in beautiful, sunny Lubbock, Texas, was a good intermediate compromise we came to, and she felt comfortable with that. And we felt better about the fact that, you know, there was less likelihood of it hardening and becoming impossible to treat.

Dr. Johnson: For some reason, I find that a lot of people think that there is no effective treatment for vitiligo, even people in the medical community. And I'm not sure why that is. There are definitely effective treatments. One of the downsides, though, is that they take forever.

So I like to explain that treating vitiligo is a marathon, not a sprint. So if I start a patient on treatment for vitiligo, I have them come back in six months because that's about how long it takes to start noticing a difference. Hopefully, we can stop the disease process a lot faster than that, but to see repigmentation, it takes about that long.

And I think if you think about how the treatment works, that makes some sense. Most of our treatments for vitiligo work by telling the immune system to chill out, right? The immune system is overactive here. It's beating up the melanocytes. So if we use medicines that get the immune system to calm down, then around your hair follicles, you have these little stem cells and they could then stick their little heads up and look around. And if the coast is clear, they can turn into melanocytes and slowly crawl along the skin and then slowly grow a bunch of little tentacles and slowly then spread their new melanosomes to the keratinocytes and you can get repigmentation. But you can imagine how it takes them so long. I mean, their heads are so small, probably their legs are so small, they just have to crawl along. It takes forever.

Dr. Tarbox: Well, and the way that our skin repigments the location of those special stem cells is typically our hair follicles. So the areas of our body that have that greatest density of hair follicles, like our face, are more likely to repigment than areas that have fewer hair follicles or no hair follicles, like fingertips. So that's also something we discuss when we're treating patients.

Dr. Johnson: It also is something to think about for prognosis. So if somebody is hair is white in an area, it's harder to get the pigment to come back because, you know, even those hair pigment cells have been affected.

But specifically about treatment, a lot of times we'll use creams and ointments and things that you rub on the skin, like topical steroids, and, of course, dermatologists and other doctors are very familiar with these medicines and know how to use them safely. There are other topical medications as well that can work, again often by telling the immune system to calm down in a particular area, but not necessarily.

There's also a treatment called phototherapy. So I think we mentioned this before, when we've talked about some other conditions, but there is a particular wavelength of light that tells the immune system to calm down in the skin, and dermatologists have machines that produce that wavelength of light. So sort of the official way to do it is to go to a dermatologist's office and have this light shined on your skin. If you have just a small patch of vitiligo, you can use, you know, just a tiny little lamp to do it. But it's onerous. It's inconvenient. It takes about three times a week for at least, well, three to six months to see if you're getting better. Sunlight has that wavelength in it as well. But beware sunlight has a lot of other wavelengths that we are worried about, especially in vitiligo because it could sunburn the skin. So natural sunlight for 10 to 15 minutes a day is probably all right, but longer than that, you want to make sure you're careful.

Dr. Tarbox: And paying good attention to how the skin feels is a good idea. Most people who've experienced a sunburn know that you can kind of feel it when that's starting to happen. So if that's something that's occurring for you, it's a good idea to check in with your skin and protect it accordingly.

Dr. Johnson: In addition to putting medicine on your skin that tells your immune system to calm down in that area, a dermatologist or other doctor might treat vitiligo by giving you medicines by mouth, or through an injection even, that tell your immune system to just calm down everywhere on the body. As you might guess, those have a lot more potential side effects, but they're also more powerful. So we might have to use them for people with pretty extensive or rapidly progressing vitiligo.

Dr. Tarbox: And then there's other things that are kind of natural things to help support the repigmentation of the skin. One of my favorites in this category is a medicine based off of the plant, whose scientific name is polypodium leucotomos. It's fun. It sounds like a spell from Harry Potter, "Polypodium leucotomos, you are now protected from the sun." So this is actually a tropical fern that lives on the equator and has been used as a folk medicine by people who natively live in those areas for centuries to protect against sun-related illness. It's a very safe medication. It's actually so safe it's put into gummy drops for children to use. There are different manufacturers, call them Sundots or Sundailies. There's also a broadly available commercial product over-the-counter called Heliocare. We have no relationship with this company. We are not sponsored in any way. It's a good product, it's easy to find, and it doesn't have any meaningful drug interactions, and no side effects have been reported with this medication.

Dr. Johnson: There also is some medical data behind vitamin A, vitamin E, and alpha-lipoic acid for vitiligo. I think that, you know, adding the vitamins and the polypodium leucotomos, Harry Potter spell, are good things to do if you're also doing something else to treat your vitiligo. I think probably just the vitamins by themselves are not good enough to treat most people's vitiligo. So if you or somebody you know has it, your doctor might recommend those as well as some other kind of medication.

Dr. Tarbox: I totally agree. They're good supporting cast, but they're not the main characters.

Dr. Johnson: You might also want to camouflage your vitiligo, or somebody with vitiligo might want to just camouflage it, for example with makeup or something like it that is the color of their natural skin. There are a number of brands out there. Again, we're not sponsored. We just like to say names of things so you guys know what to look for. So there's one called Zanderm, for example, Z-A-N-D-E-R-M, which is basically this little marker that you just rub on your skin in the area. And unlike the markers that my children use in their coloring books, this one lasts for a longer time, probably a week or so, before washing off.

Dr. Tarbox: That's a great product. And I have a funny little anecdotal story. A different kid who had vitiligo, youngest teenager, similar age, got the Zanderm markers and figured out she could make patterns on her vitiligo. And it was kind of cool looking because she's not allowed to have a tattoo yet, she's only 12. So it's really cute that she kind of was coloring in her vitiligo with her Zanderm marker.

Dr. Johnson: That's fun. Her own canvas?

Dr. Tarbox: Mm-hmm.

Dr. Johnson: There are also some new medications coming out or that are currently in therapeutic trials that look very promising. So if you or somebody you know has vitiligo and especially if it's extensive and you've tried some stuff that hasn't worked and if you're starting to feel a little discouraged, these new medicines look pretty good. So they're not FDA approved right now, but I bet they will be in the next year or two. So there is hope.

Dr. Tarbox: So what else do people who have vitiligo have to worry about, Luke?

Dr. Johnson: Well, usually nothing, but if your immune system has decided to attack your melanocytes, it's possible that it might want to attack some other part of your body too. So rarely people with vitiligo have some other autoimmune diseases, most commonly thyroid. I want to emphasize that most people don't, but your doctor might want to check some lab work, especially if you have some other symptoms as well.

Dr. Tarbox: And then what other kinds of things do people have to worry about? Does this disease ever go away and then come back?

Dr. Johnson: Well, yes. So we talked about how your genes probably put you at risk, and you're going to keep your genes even if your treatment successfully repigments all your skin. So people who develop vitiligo unfortunately are kind of always at risk for developing it again or developing new spots. So be on the lookout. For my patients who, you know, we've pretty much repigmented them, I say, you know, "If you develop a new spot, please start treating it with the same medicines and let me know what's going on."

Dr. Tarbox: So I think that, you know, if you have any questions about vitiligo, if you're worried that you have a spot that's vitiligo, it's a good idea to seek the opinion of your physician. There are conditions that kind of mimic it and that are much more common. The most common one is a condition physicians will call pityriasis alba. But it's actually light colored spots on the skin that come from some other inflammatory condition, most commonly mild eczema, and that is not vitiligo. So sometimes people will see those lighter splotches, especially on the cheeks of young children that have sensitive skin. And that's a different condition that's much more treatable and a lot less likely to have any kind of permanence.

Dr. Johnson: Yes, that's a good point. Most pale spots on the skin are not vitiligo. And one way dermatologists tell them apart is because vitiligo is just like super pale, it's a bright white, and then other sorts of pale spots on the skin are usually not completely bereft of pigment. So they're not as bright, striking white as vitiligo is.

Dr. Tarbox: There's another condition called tinea versicolor that can also make little round, light colored spots on the skin. And that again is a treatable condition, that I believe we talked about in a different episode of this podcast, where you have a mild yeast overgrows on the skin that lightly depigments it, and that's very treatable and doesn't have any significant long-term impact.

Dr. Johnson: Well, that's vitiligo in about 15 minutes. Thanks for hanging out with us today, guys. And thanks, of course, to University of Utah for supporting the podcast, and thanks to Texas Tech for lending us Michelle.

If you like listening to us, I can hardly blame you, you can find our entire archive on Apple Podcasts in the Skincast website. You can also listen to us more talk about a lot more nerdy dermatology stuff on our other podcast called "Dermasphere." We say it is the podcast by dermatologists for dermatologists. And for the dermatologically curious, you can find that one on Apple Podcasts as well or wherever you get your podcasts. And we'll see you guys next time.

Interviewer: Amyloidosis is a rare and possibly debilitating disease, which affects about 4,000 people a year in the United States. If left untreated, the disease can cause severe organ damage, so early detection is critical. Dr. Aman Godara is an amyloidosis specialist at Huntsman Cancer Institute. Dr. Godara, first of all, what causes this disease?

Dr. Godara: So amyloidosis is a rare and complex disease where a protein misshapes itself, becomes the amyloid protein, and then deposits in different organs of the body causing damage.

Interviewer: So it collects in different organs?

Dr. Godara: Correct.

Interviewer: And for each patient, it could be a different organ. It could manifest itself differently.

Dr. Godara: The type of protein that's behind amyloidosis could affect what type of organ is involved in the body.

Interviewer: And the diagnosis for a lot of patients can be kind of an aha moment because it can manifest in different ways. Somebody could be experiencing some sort of abdominal pain and just really can't track down what it is, and it ends up being amyloidosis. Explain that a little bit more, that aha moment.

Dr. Godara: So the diagnosis of amyloidosis can be very challenging because, as we mentioned, there are several different types of protein that can cause several different manifestations in the body.

So usually, when a patient is being diagnosed with amyloidosis, the diagnosis requires a biopsy of an organ or a tissue in the body that we suspect would be involved with the amyloidosis.

There have been some newer developments in diagnosing amyloidosis, and that's the type of a nuclear scan that we have started using to diagnose a type of amyloidosis that we call as the ATTR amyloidosis.

Depending on the type of organ that's being damaged by the amyloidosis, the symptoms could vary along. If someone's heart is being damaged with amyloidosis, usually patients with heart damage from amyloidosis experience shortness of breath, they experience swelling in their legs, and when they go to see a cardiologist, they are usually identified to have heart failure.

When amyloidosis affects the kidneys, it can cause leakage of protein in the urine, which can manifest itself as a form of urine. Sometimes patients with amyloidosis have involvement of their nerves and that can manifest as painful neuropathy involving their arms or their legs.

Interviewer: So when somebody is experiencing some of those symptoms, they might go to their family doctor, right? And it sounds like this could be a lot of different things. Is it pretty easily misdiagnosed at first?

Dr. Godara: As the diagnosis for amyloidosis is so challenging, misdiagnosis occurs often because the type of symptoms that come along with amyloidosis can occur from other diseases and other conditions.

If a patient is experiencing symptoms of heart failure, that could manifest from a different number of reasons. When patients have kidney dysfunction, that can also occur from a list of different conditions that can damage the kidneys.

So often at the point of care, when these patients are experiencing symptoms that might be related to amyloidosis, the patients end up seeing multiple different types of specialists before they are diagnosed with amyloidosis.

And there are certainly some delays in diagnosis that, on an average, patients take 6 to 12 months to be diagnosed with amyloidosis from the time their symptoms start.

Interviewer: And that's important because time is really important with this diagnosis because the damage to that particular organ keeps occurring.

Dr. Godara: The damage from amyloidosis is progressive damage. So the longer we are taking to diagnose amyloidosis, the more damage would occur in that organ that's being affected by this disease. So timely diagnosis is of utmost importance.

Patients who are diagnosed earlier in the course of disease might have damage to that organ that could be reversible at that point. But ultimately, if we miss a diagnosis, and it takes a really long time for a patient to be diagnosed with amyloidosis, that damage to the kidney or to the heart could end up being an irreversible damage that even treatments would not be able to recover from.

Interviewer: That's really challenging because as a person that has a condition, sometimes you have to go through some multiple diagnoses to figure out what it is. Is there any piece of information that a patient might have that would indicate earlier than later that it is an amyloidosis?

Dr. Godara: So patients who are suspected to have amyloidosis usually require a comprehensive evaluation to identify the type of amyloidosis and to identify the manifestations of it. So the workup depends quite a bit on the type of amyloidosis that we are suspecting.

If we are suspecting lichen amyloidosis, that occurs from the excess of lichens, the first and the foremost test that we perform for those patients are blood and urine testing to identify if they have an excess of lichens, which could ultimately be causing amyloidosis.

If patients have an excess of immunoglobulin lichens in their blood or urine, the next step for those patients is to have a bone marrow biopsy to identify any clone in the bone marrow that might be producing these excess lichens and ultimately the amyloidosis.

The other type of amyloidosis that we commonly see is the ATTR amyloidosis, which occurs off a defect in the transthyretin protein that is being produced by the liver. Patients who have ATTR amyloidosis could either be patients who have developed this type of amyloidosis because of old age or this could also be the type of amyloidosis that runs in the family.

So if we are suspecting a patient with ATTR amyloidosis, and we suspect that they have some cardiac damage from it, there is a nuclear scan of the heart that can help us identify this type of amyloidosis. This scan is called as the PYP scan. Patients who have a more genetic form of ATTR amyloidosis, we have genetic testing that can be done either through a swab or a blood test that can help us identify the hereditary type of ATTR amyloidosis.

Interviewer: How reliable are these tests?

Dr. Godara: When patients undergo evaluation for amyloidosis, the blood and the urine testing usually helps indicate whether or not there is any damage that's occurring to the different organs in the body that we would suspect in a patient with amyloidosis. So they only tell us to a certain extent.

Ultimately, patients would require either a tissue biopsy or an organ biopsy to see that amyloid accumulation happening in that organ to have a confirmation of this type of diagnosis.

Interviewer: Many patients find information on the internet when it comes to this disease that can cause anxiety and apprehension. Why is that?

Dr. Godara: I think the answer to that lies in the complexity of the disease. When patients look up amyloidosis, one thing that they might not know at that time is the type of amyloidosis that we are suspecting that they have.

The workup for amyloidosis, the treatment for amyloidosis, and the prognosis of amyloidosis depends a lot on the type of amyloidosis that they have. So the information on the internet might not be very accurate to the fact to the type of amyloidosis that these patients have. And the generalized information can create a lot of confusion and apprehension.

Interviewer: So somebody could find out they have amyloidosis but not exactly know what kind, go to the internet, start doing some research, and then that can be scary place.

Dr. Godara: I think that's correct. When we see patients who are referred to us for amyloidosis, patients have very limited knowledge as to what this disease entails and why this diagnosis is being suspected. So my job for my patients is to explain to them why the suspicion exists, and what do we need to do to identify whether or not they have amyloidosis.

The information that's available for the patients before they have completed the evaluation could be very generalizable and might not be important to that type of amyloidosis that they have.

Interviewer: And let's talk about treatments for the condition. So you have a positive diagnosis, you know what kind it is, you know what it's impacting, I would imagine that the treatments that you would give depend a lot on the same kinds of things we've talked about up until this point.

Dr. Godara: So as there are so many types of amyloidosis that can inflict damage into the body, the treatment basically depends on the type of amyloidosis. So there have been a lot of developments and a lot of exciting work has been done for patients with amyloidosis in the last few years.

So when we see patients with lichen amyloidosis, just last year, we had a treatment that is specifically developed for patients with lichen amyloidosis that was approved by the FDA. This is a combination of four medications together that not only results in eradication of the clone that causes amyloidosis, but also helps improve the heart, kidneys, or any other organs that might have been damaged as a part of this condition.

So patients who have transthyretin amyloidosis have two different types of treatments available for them. One treatment focuses on stabilizing the transthyretin protein and preventing it from turning into amyloidosis. And the other type of treatment targets the liver and prevents it from producing the transthyretin protein, so that ultimately you cut out the source that would be causing amyloidosis.

So there's been a lot of progress and a lot of other new treatments that are in clinical trials for these two types of amyloidosis. For several other types of amyloidosis, we don't have any treatments available yet.

Interviewer: And for those patients, is it just managing the disease best you can, managing the symptoms? What's the strategy?

Dr. Godara: So patients who have types of amyloidosis that we don't have treatments for, our focus remains on the organs that are afflicted from this disease. We try to support the organs that are damaged as a part of amyloidosis, and sometimes these patients will end up receiving a kidney transplant, or a liver transplant, or a heart transplant depending on what type of organ was damaged, irrespective of whether or not we have any treatments available for that type of amyloidosis.

The first and the foremost thing for patients with amyloidosis is to identify these patients at the earliest, because the sooner we take to diagnose this condition, the sooner we can try to reverse this process.

Delays in diagnosis can ultimately hurt the patient, so we have to create awareness at all levels of our healthcare system to identify these patients who might or might not have amyloidosis so that they undergo the appropriate workup and have a confirmation on whether or not they have this condition.

So we need to create awareness not just at the level of the primary care doctor, but also the specialists that our patients see. And at the same time, we also have to increase the awareness about this rare disease with our patients, so that if they have one of the symptoms that we relate with this condition, our patients can come to us and be evaluated for the suspicion.

The one thing that patients with amyloidosis require is a comprehensive evaluation. So when we suspect amyloidosis in a patient, our patients require a multidisciplinary team to not just help identify whether or not they have amyloidosis, but also once the diagnosis has been confirmed, we can focus not just on the cause of what's causing the amyloidosis but also help support the organs that are damaged as a part of this disease.

So at the Amyloidosis Program at Huntsman Cancer Institute, our patients receive care under a team of specialists that includes representation from cardiology, nephrology, and neurology to provide the best possible care that our patients need.

Interviewer: It's a simple test, but it can tell you a lot about your future health. Dr. Tom Miller, what can a person's BMI, or body mass index, tell you about a person's chance of developing certain diseases?

Dr. Miller: It is very useful and it's a quick and simple way to figure out if you're overweight, underweight, or even too low in weight. So people with an above-average BMI basically are more likely to have certain diseases that are common in our society, so high blood pressure, diabetes, and even heart disease over a long period of time.

Interviewer: All right. But I've heard that it's not always accurate, especially, like, if I have a large amount of muscle mass.

Dr. Miller: That's true, but for the average person, it's a pretty darn good measurement and it's a good place to start. So if you have a higher-than-average BMI, you should take steps to lose that excess weight on your own or if your BMI is pretty high, you probably ought to see a nutritionist or a provider to get help to lose that weight.

updated: May 6, 2021
originally published: March 31, 2017

Announcer: Health information from expects, supported by research. From University of Utah Health, this is TheScopeRadio.com.

Dr. White: I'm Dr. Charles White, family medicine, physician, at the University of Utah Sugarhouse Clinic. One question I get about immunizations from first-time parents and even more experienced parents is: Why are we giving so many shots in the first couple years of life?

It's a matter of timing really because infants come to us with this immune system that's ready to work but it's immature. And so we want to do as much as we can to help build the defenses of that infant as early on as possible. The vaccines help with that. And having that immature immune system that hasn't been exposed to a lot of things makes it much more efficient at this age group when they're young.

We do about 24 immunizations in the first 2 years of life for 15 different diseases. It's really important and at that timing is that first six months when we do the most, that we're just giving their immune system something to fight, something to start a memory for, something that will last them the rest of their lives really.

The reason why these 15 diseases are what we focus on, they're generally the ones that have been found to be the things that are going to make your child the most sick, the most ill, the things that are going to have the most long-term effects. Diseases that we would generally say have a really high potential for causing bad outcomes, and so those are the ones that we really focus on.

Some parents think that we're giving a lot of shots, but the reassuring thing is we've done this for years and years. There's great evidence behind it and most children, the good majority of children, handle and tolerate that many shots very easily and very well. Because as I said, they have this immune system that's ready to work, it's just we're giving it something to work on.

Just to reiterate, it's very important that we do all of these shots as scheduled. I know it's a lot of shots. I know that people think that we're sometimes giving too many. But the important thing is that we have this baby with a new immune system that needs to be kick started, and we know from experience that children tolerate this well. There's absolutely very little harm in doing the shots and much to gain from getting immunizations as scheduled.

Announcer: Have a question about a medical procedure? Want to learn more about a health condition? With over 2,000 interviews with our physicians and specialists, there’s a pretty good chance you’ll find what you want to know. Check it out at TheScopeRadio.com.

updated: April 24, 2019
originally published: February 27, 2017

Interviewer: Searching DNA for clues to the cause of death, up next on The Scope.

Announcer: Examining the latest research and telling you about the latest breakthroughs. "The Science and Research Show" is on The Scope.

Interviewer: I'm talking with Dr. Marty Tristani-Firouzi, a pediatric cardiologist at the University of Utah. Paint me the scene here, a child dies unexpectedly, which is a horrible situation in any case. But, if it's not clear why the child died, what's typically done to find the cause of death?

Dr. Firouzi: There is an investigation at the scene to try and understand the circumstances of the death. A lot of infants that die, and fall into the category of sudden infant death syndrome may have certain situations with sleeping on a mattress which isn't firm, or somehow they became smothered, someone rolled on top of them. That sort of a thing would identify a cause of death. But more commonly, an autopsy is required. And the autopsy then rules out unknown cancers. It can also reveal trauma that would be a non-accidental death. Frequently, the autopsy ends up being negative. And then we get back to the situation where the family is told, "We really don't know why your child died."

Interviewer: There must be a presumption that the heart is the cause for the many of these sudden deaths. Is that true?

Dr. Firouzi: That is true. And I think the literature supports that as a general assumption. It's such a profound event. The heart is so crucial in maintaining our survival. And we know that arrhythmias can cause sudden death. In patients that are known to have specific diseases, some of them will suffer a sudden cardiac death. And so by excluding the pathology, by saying these are autopsy-negative sudden deaths, in the young, I think the majority of clinicians in the country would presume they were arrhythmic until proven otherwise

Interviewer: Part of what you're doing, is kind of getting beyond the traditional autopsy. Why is it not enough?

Dr. Firouzi: If the heart looks normal structurally, even under histology, the heart can look completely normal and yet these individuals can have died of an arrhythmic death and have other family members. And so . . .

Interviewer: So a heart arrhythmia . . .

Dr. Firouzi: A heart arrhythmia where the heart beats too fast or too slow and that results in sudden death. So the term "molecular autopsy" refers to the ability to do DNA analysis of the deceased victim and that really goes the step beyond the traditional histological autopsy.

Interviewer: What can the DNA tell you?

Dr. Firouzi: The hope is to perform genetic analysis of the deceased individual and identify either known variants and known genes that cause inherited arrhythmias or novel genes that we haven't yet associated with arrhythmic risks. And our hope is that we can find this in deceased individual and then sequence the first-degree relatives and find out whether other family members carry that damaging variant.

Interviewer: Why is it important to know the cause of death? I mean, it's something that's already happened so it just for peace of mind or are there other reasons as well?

Dr. Firouzi: Sure, that's a great question. A lot of families want to know why so that they can have some sense of closure. But I think more importantly is whether other family members are at risk. So for the arrhythmic types of death, many times these arrhythmias run in the family and the family may not know that. And this sort of sentinel finding of sudden can occur in these types of inherited arrhythmias. And the question then is who else in that family is at risk of dying suddenly? And this is a very difficult thing for families to process because they're in this grieving process and then finally they're told that maybe they have something in their family and maybe their other children will have the same demise.

Interviewer: So even if this one child dies at a very young age, there could be older members of the family that are still at risk?

Dr. Firouzi: Absolutely. That is exactly right.

Interviewer: So what exactly are you looking for in the DNA?

Dr. Firouzi: There are specific families of arrhythmias. The most common and probably the most well recognized is the family of long Q-T syndrome, of which there are up to twelve genes that have been implicated in long Q-T syndrome. What we see, at least in Long Q-T syndrome and a lot of other inherited arrhythmias, there are other family members that carry that disease variant. And they may be normal. They may have normal electrocardiograms if we put them under stress, like an exercise stress test. Sometimes they will behave normally as well.

But if we further stress them by giving them a medication and testing whether they have electrocardiographic findings, sometimes under those more extreme circumstances, we can uncover the clinical phenotype that is consistent with the disease. And so the key part of this is not just to do the DNA analysis on the deceased, but to do a clinical analysis and a DNA analysis on the first-degree relatives.

Interviewer: And you had mentioned too that a part of this whole initiative is discovery as well. I mean, there are some genetic variants that we know about, but there are probably a lot we don't know about.

Dr. Firouzi: Yes, absolutely. So there have been a few studies that have used this concept of the molecular autopsy where they go through sequentially and look at a series of individuals that had died suddenly. And in maybe 20% of those sudden death victims, you can find a variant in a known gene that is known to cause arrhythmia disorders and sudden death.

But the majority don't have a simple variant. And the fact that they died from an arrhythmic death, presumably, would suggest that indeed they have some genetic disorder and that variant may lie outside the coding region, which outside the exome in the whole genome space in some area that has not been well characterized. And the majority of DNA has not been characterized.

The other part of the discovery is can we find variants in this what was thought to be desert landscape of the genome, which actually probably plays an important role in the regulation of the ion channels that we know cause these sudden death disorders.

Announcer: Interesting, informative and all in the name of better health. This is The Scope Health Sciences Radio.

Dr. Miller: Congenital heart disease, what is that exactly? We're going to talk about that next on Scope Radio.

Announcer: Access to our experts with in-depth information about the biggest health issues facing you today. The Specialists with Dr. Tom Miller is on The Scope.

Dr. Miller: Hi. I'm here with Dr. Colin Cowley and he is a Professor of Cardiology at the University of Utah and he also practices at Primary Children's Hospital. Colin, tell us a little about what congenital heart disease is.

Dr. Cowley: Congenital heart disease is a form of heart disease present when a child is born. Congenital just simply means present at birth. There's a large spectrum of diseases that we see, ranging from very mild that essentially heal themselves to life-threatening forms of heart disease the require multiple surgical procedures and other types of interventions.

Dr. Miller: Do you have any estimate as to how often a child might have congenital heart disease out of the population?

Dr. Cowley: It happens in about 1% of all live births. There's a large spectrum, as I've just said, from very mild to immediately life-threatening.

Dr. Miller: And so I would think, with modern medicine since the '50s probably, a lot of these kids are alive now and living into adulthood. Is that correct?

Dr. Cowley: That is correct and that's one of the important changes in medicine, at least from my perspective. Many of these forms of heart disease, historically children at a very short live, many of them didn't survive the newborn period. Others survived into childhood very handicapped as a result of their heart disease. But with advances in surgical intervention and catheter-based intervention and imaging and medications, the vast majority of these children now survive into adulthood.

Dr. Miller: Which then presents a new set of problems, I believe. So that they need to be managed lifelong it sounds like.

Dr. Cowley: Exactly.

Dr. Miller: And it's not just regular care, they need specialty care I would assume, right?

Dr. Cowley: This is very specialized care. There are now more adults in the United States with forms of congenital heart disease than there are children. There are well over 100 large centers around the country that provide care for children with congenital heart disease and very few centers that are now prepared to take care of adults with congenital heart disease.

Dr. Miller: And my understanding is you run of these centers of Primary Children's, is that correct?

Dr. Cowley: Correct. It's a collaborative program working with people at the university hospital as well as Intermountain Medical Center.

Dr. Miller: And this involves multiple specialties or a multi-specialty orientation so you've got cardiology, thoracic surgery and pulmonary medicine.

Dr. Cowley: Yes, there are a large number of sub-specialties that become involved with these patients. In addition to heart disease, there is a very high instanced of associated diseases, kidney disease, lung disease, neurologic disease and a variety of psychosocial issues that have the potential to very seriously affect these patients.

Dr. Miller: How does a patient get into your program? How do they seek out and receive that specialty care that seems so important to their longevity?

Dr. Cowley: Many of them have been within our program throughout their life. We estimate there are about 8,000 adults in Utah alone with some form of significant congenital heart disease.

Dr. Miller: That's a lot.

Dr. Cowley: It is. Many of those have been lost to follow up and we are in the early stages of really formalizing our program and we will reach out to everybody any way we can to make sure the people realize we now have the infrastructure set up to provide them with comprehensive care across the board.

Dr. Miller: So for a patient who's involved in comprehensive specialty care, can they expect to live a pretty full life, and work, and is that generally the case?

Dr. Cowley: Many of them. It depends on the severity of the underlying heart disease. Some of these children are born essentially with half a heart and they undergo a series of operations where they have one pumping chamber that pumps blood out to their body and the blood flow to their lungs, instead of being pumped essentially has to go there through gravity. That's associated with many negative consequences including, for many of them, serious liver disease. But the expectation is that the majority of those patients will go on to need cardiac transplantation and some of them, liver transplantation at the same time.

Dr. Miller: Now that would be the minority of the patients in your group?

Dr. Cowley: That is the minority, so most of the patients that make it to adulthood with congenital heart disease have what we would call two ventricle physiologies. So they have two pumping chambers and they have problems with valves or other issues. But there are those with the more complex forms of heart disease that represent a minority.

Dr. Miller: So for patients who have congenital heart disease that live at a distance, how often would you see them and also would you transfer some of their care back to their physicians wherever they're from, say if they're from the different part of the state or a more rural part of the state? How do you deal with that, do you have outreach clinics?

Dr. Cowley: Yes, so we have outreach clinics, in fact, we're reaching into Idaho as well we have a formal clinic in Saint George and we're actually reaching into Alaska now. There's a large population up there that will benefit from our services, but we do . . .

Dr. Miller: So you have an outreach clinic in Anchorage?

Dr. Cowley: Yes, we do. Depending on the patient we might just need to see them once a year, sometimes twice a year. If they're much sicker, more frequently than that. We try to partner with their primary care physician to provide them with support to minimize the number of times they actually have to make the trip to see us, especially if they are remote.

Dr. Miller: What would be the average age of the patient that attends your adult congenital heart clinic?

Dr. Cowley: Probably in the mid-30s at this point.

Dr. Miller: Why is it important that these patients with congenital heart disease contact your clinic?

Dr. Cowley: Well, I think prevention is key here. If we can anticipate problems for some of these patients we can potentially prevent many, many downstream problems. There's a very high rate of associated problems for these patients, some of them cardiac, some of them non-cardiac. The cardiac disease can become progressive. So if they have rhythm problems, which a large percentage of these patients do, they may not know it.

Dr. Miller: You mean abnormal heart rate?

Dr. Cowley: Exactly. Abnormal heart rates or abnormal heart rhythms. There are some excellent providers in the community that can provide very good care, but the complexity for some of these adults really requires sub-sub-specialty care that I think there's nobody else really adequately qualified to provide.

Dr. Miller: So whom should they contact if they were to call Primary Children's Hospital?

Dr. Cowley: If they called Primary Children's Hospital or the university hospital operator, either number will get them, and ask for the adult congenital heart disease program. They will get put through to us and we have a team of people prepared to provide care for you.

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