Polyposis and Related Syndromes

Approximately one third of people over the age of 50 with no family history of colon cancer (considered “average-risk”) will have a few pre-cancerous colon polyps on their screening colonoscopy. In contrast, individuals with polyposis syndromes will have >20 and sometimes >100 polyps throughout their colon. Those with polypsis syndromes can also get polyps in other areas of the gastrointestinal tract such as in the stomach and small intestine, and polyps can occur at a much younger age.

Polyposis syndromes are rare and account for approximately 1-2% of all colorectal cancers. There are many different genes associated with the various polyposis syndromes which are also associated with different risks for cancers outside of the gastrointestinal tract.

People with polyposis syndromes often require multiple surgeries, such as removal of their colon, part of their small intestine, or part of their stomach, due to the number and size of polyps their bodies produce. Lifelong issues, such as changes in bowel habits, can result as side effects from these procedures.

 

Dr. Jennifer Weiss, of the University of Wisconsin-Madison, explains polyposis syndromes.

Dr. Jennifer Weiss, of the University of Wisconsin-Madison, explains polyposis syndromes.

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Polyposis syndromes are characterized by numerous polyps throughout the GI tract. In the colon, in the small intestine, and the stomach. These syndromes are rare and account for 1 to 2 % of all colorectal cancers. In the general populations, individuals may have sporadic polyps throughout their colon but generally have less than 20 to 30 in their lifetime. This means that each colonoscopy they might have a few polyps removed each time. In contrast individuals with polyposis syndromes will have anywhere from 30 to 40 to hundreds of polyps throughout their lifetime. The genes associated with increased risk of GI tract polyps are numerous and we are learning more and more each time data is collected and research is being done. These syndromes are inherited in a variety of ways, some are inherited autosomal dominant where an individual has one mutation from either their mother or father and then show signs and symptoms of the polyposis syndromes. Others are inherited autosomal recessive where they require a mutation from both their mother or father to show the signs and symptoms of the syndrome. And there is a third group which are called De novo mutations, meaning that that individual is the first person in the family to have that genetic mutation. So, there are no mutations in that gene in the prior generations of the family. However, the individual who is now identified to carry the mutation can potentially pass the mutation on to their children. Polyposis syndrome can be characterized based on the type of polyp that we see. Either adenomatous or hamartomatous polyps. These polyps are defined by a pathologist based on how the polyp looks under the microscope. Each syndrome has a different lifetime risk of different GI tract cancers and the colon, the stomach the small intestine. As well as different lifetime risks for cancers outside of the GI tract such as thyroid cancer or breast cancer. Our understanding of the lifetime risks of cancers associated with these genes is constantly expanding. So it’s important to keep in touch with your primary care provider as well as your gastroenterologist and your genetic counselor about any updates to the information we know about these genes and your cancer risks. How these polyposis syndromes present is very different. So, each syndrome has a more classic presentation. Either presenting in childhood or potentially mid to late adulthood. There is also a variety of presentations within a particular family. So we may have one family that has a mutation in one gene and the one person presents with hundreds of polyps throughout the GI tract. In the same family, an individual with the same mutation might only have 20 or 30 polyps throughout their GI tract in their lifetime. The polyps themselves also present with different symptoms. The hamartomatous polyps tend to present with bleeding causing low blood counts or anemia. They can also get so large that they can block the GI tract and cause abdominal pain and blockages in the intestine. And the adenomatous polyps while they don’t typically cause symptoms, they are pre-cancerous and can progress to cancer if they are not removed. How we remove these polyps depends on the size, the locations and how many polyps there are. We prefer to remove these polyps endoscopically with an upper endoscope or a colonoscope and avoid surgery if possible. However, when the polyps get too large or too many of them for us to remove with a scope, we do have to refer people to surgery. So individuals with polyposis syndrome are often referred to surgical removal of their entire colon with the potential of taking a small intestine, creating a pouch and attaching it to the anal canal or they might require segmental resections of different parts of the small intestine as well as the stomach. In this module you are going to hear stories from individuals with polyposis syndromes and hear about their experiences with increased risk of cancer. As well as the experiences they have on a day-to-day basis from the prophylactic surgeries that they have had to remove their colons or parts of their small intestine and stomach. As I mentioned before, polyposis syndromes are rare but our information that we are learning about the genes that are involved as well as the lifetime cancer risks is constantly expanding. So, it is very important to keep in touch with your providers. Our knowledge of the cancer risks the genes that are associated with these syndromes as well as how to manage and survey people over their lifetime is a dynamic process, and gets updated on a regular basis.

 

We included experiences of people with polyposis syndromes in the qualitative study those experiences are distinctive in some ways. For example, because polyposis syndromes carry a very high risk for cancer, people who have them are advised by their clinicians to carefully monitor and manage their polyps. People with these syndromes may also have repeated surgeries, and find limited public information and clinical knowledge about them because they are so rare and not yet completely understood.

Counting Polyps

Interviewees with polyposis syndromes talked about what it is like to live with a condition that continuously creates new polyps in their bodies. Though new polyps are certain to come, it is difficult to predict the rate at which they will grow or when they will become malignant. The people we interviewed described how this reality results in a process of continually screening for polyps, counting them and deciding with clinicians on what the next form of treatment for their syndrome should be.

 

Charlene notes that when her polyposis syndrome was finally discovered, she needed several surgeries to remove the polyps and, eventually, most of her colon.

Charlene notes that when her polyposis syndrome was finally discovered, she needed several surgeries to remove the polyps and, eventually, most of her colon.

Age at interview: 54
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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And then when I was 15, I was losing weight, did not have appetite. My mom was taking me to all these specialists, and they could not find nothing wrong, did all these testing, and nothing was showing up. So then, she took me to our family doctor, and he admitted me to the hospital and put me through the wringer with, I think, every test there was and said I had polyps in my colon the size of two golf balls. And he said so we have to do surgery and get them out. So that’s when it started, when I was like 15. And like every six months to eight months, they just kept growing back over and over. And back in that day, there was not modern technology like there is now, where they would just go in there and snip them out. It was like cut and cut and cut. So when I was like 18, 19, I went to a colon cancer specialist. And he took a lot of my colon out, where they just kept growing back. Because he said there’s like cancer cells there. There was a cancerous-- but there was like evidence of cancer cells. So he reconstructed me, and I literally have 12 inches of colon left because he kept chopping and chopping, because it kept growing back, and he told me I had familial polyposis.

 

The plans Heidi and her doctor make for managing polyposis syndrome change as the number of polyps she has grows.

The plans Heidi and her doctor make for managing polyposis syndrome change as the number of polyps she has grows.

Age at interview: 42
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: A polyposis syndrome
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Well it's nerve-wracking to go in to see, you know, for one-- having to have a colonoscopy is no walk in the park. And then having to wait to see how many you have, and what the next step is. And me and [NAME] always made the decision that we-- even this last time when I went in we were like, “OK, what are we going to do if—we always said that she— if there was ever more than 50 that I was going and having my colon removed.” So there's always that in the back of your head, what's going to happen then. Not going to lie, this time going in I never thought that I would have that many. Nor that I had thought that I would be on the road that I am now with having everything done. But it was worth it, and I can tell you if I would have had that the surgery 5, 10 years down the road, I don't know how people do it. It was not an easy walk in the park.

 

Steve Z. says his next surgery will happen when the number of polyps he has makes that necessary.

Steve Z. says his next surgery will happen when the number of polyps he has makes that necessary.

Age at interview: 50
Cancer-Related Experience: Elevated Risk
Type of Inherited Risk: A polyposis syndrome
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Get all the polyps at once. I had other polyps in other places that they felt comfortable about taking out. Some in my throat, some in my stomach, but, you know, a few thousand in my large intestine. So that was the plan, just to take that out, and then frequent checks after that to see if they're growing back. And that's just a number thing. If there's more than a certain amount, they would take the rest of my colon out.

 

Mea worries about her polyps getting too big between procedures.

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Mea worries about her polyps getting too big between procedures.

Age at interview: 39
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: A polyposis syndrome
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You know, I try not to miss any appointments, any procedures. Like, you know, when I was pregnant with my son, I had to miss my procedure. It really freaked me out, because I'm like, “I don't want them to get too big.” You know, so, I try to stay on top of them before they turn into anything.

Pervasive Polyps

People we interviewed noted how the continuous growth of polyps in their bodies signals a future of repeated medical procedures.  In Eve’s words, it’s not about “if” but about “when’s it going to happen.” For Paul, the necessity for surgery once polyps multiply was made extremely clear by his doctor, who answered Paul’s question about the consequences not having surgery by saying “’oh, that's easy, you'll get cancer and die.’” Repeated prophylactic surgeries took a substantial toll for many, both physically and emotionally.

 

Thomas despaired when his surgeries made it impossible for him to continue his dream job.

Thomas despaired when his surgeries made it impossible for him to continue his dream job.

Age at interview: 47
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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It was horrible to go from thinking that, you know, I was positive, I'm going back to work. Yeah, I’m [uh], I ain't worried about it. Call the job. She had to call the job and tell them that I took a turn for the worse. So they just, they just wrote it as if I couldn't pass the physical. And when she told me, I broke down and cried. You would've thought I broke down and cried about the cancer, you know, about everything.

 

Mea’s choices about family size and pregnancies were complicated by her surgical procedures.

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Mea’s choices about family size and pregnancies were complicated by her surgical procedures.

Age at interview: 39
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: A polyposis syndrome
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My OBG was like, you know, “you really should think about, you know, not having any more kids.” You know, because when I get pregnant, it's harder on me than the average person. And then things happen. Like when I had high blood pressure, she was thinking after I delivered it would go down, but it never did. It never did. So I've been having high blood pressure for 11 years. And then, when I got pregnant with my last son, we had to induce with him, because it was so much room, she didn't want him to be so big and, you know, wrap himself around, or, you know, mess with my scar tissue, and stuff like that. So, yeah, it was kind of hard.

At the same time, our participants noted their lives adapted around missing organs and other surgery-related changes better than they might have expected.

 

Steve Z. felt confident he could adapt to future surgeries.

Steve Z. felt confident he could adapt to future surgeries.

Age at interview: 50
Cancer-Related Experience: Elevated Risk
Type of Inherited Risk: A polyposis syndrome
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Because if it's not good news, I mean-- it's fine. I mean, you know, if it's something-- another procedure, or getting a bag, or losing another organ-- I don't know. You can kind of figure that out as you go, you know, if it's worse. Fortunate to have these last few years. So I don’t really worry about it. I think it's-- again, I trust who I'm going to.

 

Paul says he has gotten used to things that seemed impossible at first.

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Paul says he has gotten used to things that seemed impossible at first.

Age at interview: 46
Cancer-Related Experience: Cancer
Type of Inherited Risk: A polyposis syndrome
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What's coming next? Because there are other areas that can be affected by my condition.... But it’s surprising what you can get used to and how quickly you can get used to it.
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When they first started talking about gastrectomy, many years ago before they decided the polyps in my stomach were benign, my thought was “I'll just let it kill me. I'm not having another surgery.” And then when they said, “well, I think you're you might have to have your stomach out,” I was like, “OK, cool. Let's do it.” Because you can be cavalier about it, but I have decided, also, having survived the first couple of surgeries, I’ve decided that I would pretty much just like to live forever. So I was like, “OK, cool. Sign me up. Let's have the surgery. Let's do what we need to do.”

Limited Public Information

People we interviewed who have polyposis syndromes described observing that public awareness about the syndromes remains minimal. Even on the internet, some reported, it’s not possible to find useful or sufficiently relevant information. As Paul put it, “there's not a lot of information available for my condition. Because few enough people are affected by it.”

 

Heidi says that there is not enough information out there related to her specific experience.

Heidi says that there is not enough information out there related to her specific experience.

Age at interview: 42
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: A polyposis syndrome
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There's really not much about this disease that that people know about. Or that-- everything you read is exactly the same.
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Yeah, so how does that feel to have not much out there?
Not very good. That's why I dec-- that’s for sure why I decided that I wanted to do this. Because I want to help people know that they're not alone and that there's other people out there that are going through the same thing. I was telling you earlier about diet. It's very hard when you ask about-- I even went to a dietitian, and they gave me the same information that I got in the hospital about what I should and shouldn't eat, is all the same stuff that people that have an ostomy. So there's nothing for people who don't have an ostomy, what they should and shouldn't eat-- just to follow the ostomy guidelines. Well, it gets hard to follow those all the time. And you wish there was more information on what you're going through then there is out there. And there's not much.

Limited Clinical Knowledge

Participants also described limited knowledge about polyposis syndromes in various clinical settings. Eve, for example, felt that she was being singled out as a “medical zebra,” with one of those “crazy diseases” that doctors had learned about back in medical school but almost never encountered in practice. Thomas, like many participants with polyposis syndromes, was told by his doctors that “Everything about you is rare.”

Some people specifically talked about primary care providers struggling to diagnose or understand their situations. Limited knowledge in primary care settings also raised concerns for some of our participants about the quality of their medical care.  

 

Mea worries that clinicians miss or delay diagnoses because they are not aware enough of polyposis syndromes.

Mea worries that clinicians miss or delay diagnoses because they are not aware enough of polyposis syndromes.

Age at interview: 39
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: A polyposis syndrome
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I want the doctors to be more aware. You know. They're—they’re doing the best they can, but there are people out here with rare diseases that need help.
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And so, you know, I went back and forth, and they did testings and like colonoscopies when they take biopsies and pieces out. And I did that for a few months. And then, one time I went up there, and they were like, “we're just going to test you for like rare genetic things.” And then, I would say about two or three days later, they called me, and they were like, “you tested positive for FAP.”