Juvenile Polyposis Syndrome

Podcast Transcript

Scott Steele: Butts and Guts, a Cleveland Clinic podcast exploring your digestive and surgical health from end-to-end.

Hi again, everyone, welcome to another episode of Butts and Guts. I'm your host Scott Steele, the president of Main Campus and colorectal surgeon here at the Cleveland Clinic in beautiful Cleveland, Ohio. Today we're going to talk about juvenile polyposis syndrome, or JPS. I'm so pleased to welcome our guest Dr Jacob Kurowski, who's a pediatric gastroenterologist at Cleveland Clinic Children's.

Jacob, welcome to Butts and Guts.

Dr. Jacob Kurowski: Thanks for having me. Happy to be here.

Scott Steele: For all the listeners out there know, we always like to start on a little bit about your background. Can you tell us where you're from, where'd you train, and how did it come to the point that you're here at the Cleveland Clinic?

Dr. Jacob Kurowski: Well, I am from beautiful Cleveland, Ohio as well. I did my medical school at Ohio State and training in Chicago, and have been at Cleveland Clinic for almost 10 years now, as my first job and hopefully my last. I love being here in Cleveland. I love all things outdoors, whether it's skiing or hiking and Cleveland sports. Then got really invested also in hereditary polyposis syndromes, including juvenile polyposis syndrome.

Scott Steele: Well, that's great that you're here with us. Again, today we're going to talk about that juvenile polyposis syndrome, or JPS. High level, 50,000-foot view, can you explain to the listeners what exactly is polyposis syndrome?

Dr. Jacob Kurowski: Yeah. There are a couple different types of polyposis syndromes. When we're classifying them, it depends on the polyp type that we're talking about. Of course, to find a polyp, that means we're doing a colonoscopy for a reason. But there are types of polyps that can occur, such as juvenile polyps, without juvenile polyposis syndrome and they can be isolated in children. We often will see one or two of them in isolation, and that doesn't not mean that they have necessarily the syndrome.

Juvenile polyposis syndrome is a hereditary condition in which an individual will continue to get these polyps, and then has an increased risk of getting colon cancer or an upper GI tract cancer throughout their life. We define juvenile polyposis syndrome by having at least five or more of these specific type of juvenile polyps. Juvenile polyps are these big, meaty, vascular-looking polyps. They look scary, but they are actually quite rewarding to remove. They actually come off quite easily. They're very common and easy for us to identify as a pediatric gastroenterologist.

Scott Steele: How common is JPS? If you could go just a little bit more in-depth into are there different types of juvenile polyposis syndrome itself? Not just the juvenile polyposis, but of JPS itself?

Dr. Jacob Kurowski: Yeah. JPS is one-in-100,000 people, so not very common, but we see plenty of it here at Cleveland Clinic, as we have the largest polyposis registry in the country. We see patients from not just the Cleveland or Ohio area, but all over the country.

There are two major genes that we see associated with juvenile polyposis syndrome, and then there are a few other genes that look similar to juvenile polyposis but get classified slightly differently. There are other polyposis syndromes, such as Peutz-Jeghers or familial adenomatous polyposis, or FAP, which look a little bit different than say juvenile polyposis. They're all very much defined by the underlying genetic mutation. It is an inherited condition, autosomal dominant, which means you have a 50% chance of inheriting it from a parent.

Typically, we're concerned either because there is a family history of this, or if a patient has five or more of these juvenile polyps, then that's when we'll pursue genetic testing. The main genes that we look for are SMAD4. That one is very important because it can also be associated with another condition called HHT, or hereditary hemorrhagic telangiectasia, which is a condition in which you get vascular malformations in different areas of the body and has to get screened differently. I think we've heard from, we have an HHT Center also led by Dr. Parambil here at Cleveland Clinic. Then we also see something called BMPR1A are the two most common genes associated with it.

A little less common is one called ENG or E-N-G. We sometimes see juvenile polyps with a condition called PTEN hamartoma tumor syndrome. But PTEN is very different than JPS. There's different features with it, there's different risks than what we typically see with juvenile polyposis syndrome.

Scott Steele: Wow, that's a lot to digest there. Can you talk a little bit about what symptoms of juvenile polyposis syndrome and what age do those symptoms typically start to appear?

Dr. Jacob Kurowski: Yeah. For patients who have a family history of it, the typical genetic testing occurs at the time that they would be due for their first colonoscopy and upper endoscopy, which is between 12 and 15 years of age. Sometimes we'll base that on what the parent's presentation was. Sometimes a little bit sooner, sometimes a little bit later.

If it's somebody who we don't know that they have a family history of it and we don't know that they have juvenile polyposis, we'll often see young children, anywhere from two years of age to eight to 10 years of age, who will have usually painless but blood in their stool. Intermittently, either in the toilet or when mom and dad are wiping them if they're a younger child, they will say that they see multiple streaks of blood in the stool, usually on a monthly basis. This is outside the context of somebody having constipation, in which they may have some bleeding just when they wipe. It's usually a little bit more than that. But usually, there's no pain associated with it.

Over time, once we've determined that there's ... Especially if the patient is not having diarrhea or other GI symptoms and it's really just this painless bleeding that we see, is usually when we would pursue seeing a gastroenterologist, and then undergo a colonoscopy. It's no small task doing a colonoscopy in a young child, nothing we take lightly. We want to really be sure that in fact, this is where our concern lies. For the most part, for obviously not the one-in-100,000 people, when we go in and look, we will see a single, maybe two of these juvenile polyps, or what are called benign polyps of childhood. These polyps are very vascular, and they're also classified as what's called a hamartoma. Those are actually very easily removed. If there's one to two of them, we will remove them, and then usually that's of no consequence.

Again, you have painless, bright red blood that is recurrent and not resolving, that leads you down to a colonoscopy. Then at that point, if we start to see that there are more than five or more, five being the magic number, then that's when we start to evaluate somebody for juvenile polyposis syndrome. Following a colonoscopy and the pathology, we'll then actually have them see genetics or our genetic counselor, who will then pursue gene testing for the ones that I mentioned earlier.

Scott Steele: I want to back up just a little bit and dig in a little bit more, in terms of this inheritance. Is there a situation where the child winds up ... You had mentioned that there's a 50% chance that it can be passed along. Is there a chance that the child winds up having JPS and the parents had no idea that it was even carried in the family? I understand it's inherited, but is there anything that might cause a spontaneous mutation to occur in the genes that would a cause a child a de novo account of this to happen?

Dr. Jacob Kurowski: Yeah, great question. Out of the patients who have JPS, only about 50% of them actually have one of these identified mutations. The rest, we are still learning about and we don't always find a mutation. But if they have the features of it, they get followed for that. In about 25% of patients who are diagnosed with JPS are a de novo or new mutation, meaning that there's no family history of it and they were the first one in which this mutation occurred. Yes, at least 25% will have no family history of the condition.

Every once in a while, depending on the age of the parents, we'll find somebody in which we figure out that there has been family history of colon cancer and other things, and others then get identified. I will say that has become less and less with technology these days, and availability of genetic testing and astute gastroenterologists has made that less common. But that used to be a lot more common, where we would find a whole family with a condition rather than just one person.

Scott Steele: You mentioned a little bit about a colonoscopy identifying these lesions, and then ultimately getting genetic testing for the diagnosis. Is there any other aspects of this syndrome that can be detectable on physical exam or otherwise?

Dr. Jacob Kurowski: Yeah. For the most part, the polyps are the main feature of the condition. Occasionally, if somebody has that SMAD4 HHT, they might see something on skin where they have little lesions on their skin, or they have nosebleeds frequently, and can have vascular malformations in their nose.

There are other types of extraintestinal manifestations that are seen with these conditions. PTEN is one in which sometimes you will see it's more common in patients who are autistic, or who have what's called macrocephaly, which means their head size is a little bit larger. Then occasionally with BMPR1A, we'll see some of these features. There's something else called juvenile polyposis of infancy, they can have an overlap between the BMPR1A and the PTEN genes because they're right next to each other on the chromosome. They will actually have a lot more polyps earlier on in life, in infancy, than say the person with just the single mutation.

But for the most part, there's not a whole lot in physical exam for the bulk of these patients. I will say, the ones who turn out to be gene negative, meaning we don't find a mutation associated with it, tend to have fewer polyps over their lifetime than the patients who are positive for one of the mutations.

Scott Steele: How is juvenile polyposis syndrome treated?

Dr. Jacob Kurowski: For the most part, in the teenage years, again, we start up upper endoscopy and colonoscopy at 12 years of age, unless obviously somebody is having polyps when they're younger. If they have polyps, then for the most part, endoscopies are what we do to survey the condition. We remove the polyps. We'll follow those annually. If somebody doesn't have a polyp at one of their endoscopies, then they might be able to go two to three years in between colonoscopies. The colonoscopy is going to be the mainstay for management of the condition.

The actual risk of cancer is not until usually actually patients are a little bit older. We remove the polyps, one, to make sure that you don't get too many polyps over a given period of time, which makes it difficult for us to monitor. But the average age of developing actual colorectal cancer is in the 30s to 40s, which is good news. The risk of colon cancer in these patients is roughly about 50%, so it is unfortunately quite high. But with good monitoring, most of that is caught early. If not in a pre-cancerous state, either the cancer is isolated to the polyps and removal of the polyp is treatment, or we can plan for other things that are much more amenable, rather than having more extensive cancer as I'm sure you're familiar with.

Scott Steele: Truth or myth. Truth or myth. There is a cure for JPS.

Dr. Jacob Kurowski: I wish that was truth, but that is a myth. At this point, it is a lifelong condition so it does require a gastroenterologist in your life, pediatric and then adult gastroenterologist. I think that's one of the great things about Cleveland Clinic is that I work very closely with the adult gastroenterologists here at the Weiss Center. When we have patients who are diagnosed and I follow them in childhood, we have frequent meetings with the Hereditary Colorectal Neoplasia Center led by Dr. Liska, and also with our Gastroenterologist Dr. Burke, who are experts in juvenile polyposis syndrome as patients become adults. It is our involvement over a patient's lifetime that will keep them well.

Scott Steele: You mentioned a little bit about going forward. If I'm a family out there listening and I have a known history of polyps or JPS, how do you approach screening?

Dr. Jacob Kurowski: Yeah. Usually, in one of our first visits ... The parents a lot of times have received a lot of education, but sometimes they are in my office first and sometimes they're in the geneticist's office first, depending on what the situation is. But one, we'll talk a little bit about how the background of the patient, how they're doing, are they having any symptoms, and what to expect.

In general, some people will get a phone call and a patient with a known mutation had a child within the last year and they're looking to maybe get the child tested. We usually defer testing until patients are at an age where they're going to need that first colonoscopy, mainly because we don't want to cause any undue anxiety. There's really not a whole lot for us to do in that first decade of life. At the same time, if symptoms do develop, we're here for you. If it necessitates that, yes. Again, we don't see cancer in the first decade or two of life, very rarely, particularly in the first decade. We're not worried that we're going to miss anything. If bleeding does develop at a younger age, whether it's two, three, four years old, fine, we know there's a family history, then we would think about bringing the patient in, then consider a genetic screening followed by a colonoscopy, depending on the results.

I think it's a lot of shared decision making and education. And I think most parents, when you build that trust and have that relationship, understand there's a reason that we make these recommendations and are happy to comply as we work together.

Scott Steele: What's on the horizon as far as innovation in the treatment of JPS?

Dr. Jacob Kurowski: On the plus side, I think the awareness, and education, and screening has only increased. It's my job, among others, to make sure that the education for our trainees, as well as continued medical education for other gastroenterologists, continues so that they're aware and that we don't have patients that may have this syndrome and go undiagnosed. The genetic testing has become a lot more available. By increasing the availability of testing and identifying patient or patients, we're going to prevent cancers on that basis alone.

As I mentioned earlier, there's not really any medication or treatments at this point for juvenile polyposis syndrome. Several have been studied and not really any significant improvements. Obviously, we don't want to give any medication if it's not going to do anything or if it's going to cause more harm. But I think the biggest hurdles that we've encountered and are starting to lateral over is getting patients diagnosed and then getting patients to centers of excellence for juvenile polyposis syndrome so that they can receive the care that they need.

Scott Steele: Fantastic. Now it's time for our quick hitters. It's a chance to get to know our guest a little bit better. First of all, what's your favorite sport to play?

Dr. Jacob Kurowski: Oh, favorite sport to play. I think that's changed over the years. I'll go with a popular one right now. In the summertime, I'll play a lot of pickleball and tennis.

Scott Steele: Fantastic. What is your favorite food?

Dr. Jacob Kurowski: My favorite food? I should have been prepared for these, Dr. Steele. My favorite food is probably a medium-rare steak from Hyde Park.

Scott Steele: What is your first car?

Dr. Jacob Kurowski: Oh. I had a 1992 Honda Accord. I think it was the LX, where the actual seatbelts move up and around you, which I think for our younger listeners, they'll have no idea what this concept means, kind of like the idea of the pre-cellphone era. That car ran I think to 200,000 miles before it ... No Honda's ever stop working, you usually get in a car wreck and they get totaled before they ever stop.

Scott Steele: Then finally, if you could have just one, what would your superhero power be?

Dr. Jacob Kurowski: What would my superhero power be? I think telepathy would probably be my superhero power to be able to help patients a little bit better. I think unlocking the mystery in both children, whether they're young children or teenagers, to get to the bottom of a problem. I try to imagine myself in their shoes as much as possible when dealing with a problem, whether that's to get to the problem or to figure out the best solution for the problem. I would say that's about as close to a superhero power I have now.

Scott Steele: Fantastic. Give us a final take-home message to our listeners regarding juvenile polyposis syndrome.

Dr. Jacob Kurowski: Yeah. I think for the juvenile polyposis syndrome and all the hereditary polyposis syndromes, here at Cleveland Clinic, we have an excellent multidisciplinary team in which the care is very patient and family-centered. We work to make your life as easy as possible with these genetic conditions that unfortunately there's no cure for at this point, but always trying to push the needle forward. You're going to get excellent care and we're going to help you live a happy, healthy life to the fullest extent.

Scott Steele: That's fantastic. For more information about the Cleveland Clinic Children's Gastroenterology, Hepatology, and Nutrition Department, please visit clevelandclinicchildrens.org/gi. That's clevelandclinicchildrens.org/gi. You can also call us at 216.444.5437. That's 216.444.5437.

Jacob, thanks so much for joining us on Butts and Guts.

Dr. Jacob Kurowski: Thank you for having me, Dr. Steele. Always fantastic.

Scott Steele: That wraps things up here at Cleveland Clinic. Until next time, thanks for listening to Butts and Guts.