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Much like hereditary cancer, polyposis syndromes are inherited diseases involving the development or presence of small tissue growths called polyps.
These polyps come in different versions, typically as juvenile polyps, hamartomas or adenomas.
Polyps mainly occur in the gastrointestinal (GI) tract, such as the stomach, small bowel or colon. Children affected by polyps unfortunately have an increased risk of cancer, benign tumors and other conditions involving the GI tract later in life. Symptoms can include abdominal pain, vomiting, blood in the stool, anemia and iron deficiency, skin findings such as freckling and discoloration.
Most often, polyps develop by chance or due to unknown reasons. More rarely, a child may have an increased risk to develop polyps due to a genetic change or mutation. Mutations in many genes can increase a person’s risk to develop polyps.
For children, the focus is mostly on mutations in the genes that cause polyp development at a young age. This includes APC, which is associated with familial adenomatous polyposis syndrome, or BMPR1A and SMAD4, which are both associated with juvenile polyposis syndrome. Other genes associated with polyposis in childhood include PTEN and STK11, among others.
Mutations in each gene cause a unique genetic syndrome that increases the risk of polyps and other medical complications. During your Polyposis Clinic appointment, your child will be thoroughly evaluated for any underlying cause for polyp development by our genetic counselors and doctors.
In the Polyposis Clinic at Children’s Colorado, we treat:
If your child has an inherited condition with a predisposition to polyposis or other extra-intestinal manifestations, our team at the Polyposis Clinic will meet with you to plan a surveillance program. Using endoscopy, laboratory testing and radiology tests, we will monitor your child to prevent or diagnose problems early.
The Polyposis Clinic has providers from multiple disciplines available to see your child during a single appointment, based on their specific needs. During your visit, you can expect to meet with:
You may also meet with:
Your doctor or genetic counselor can help you figure out if your family history suggests that you may have a hereditary risk for polyposis or cancer.
In general, the following situations increase the chances that an inherited form of polyposis or cancer may exist in your family:
What should I do if I think there is hereditary polyposis and/or cancer in my family?
With a genetics consultation through the Center for Cancer and Blood Disorders, you can investigate the possibility of hereditary polyposis and/or cancer in your family. By talking with a genetic counselor, you will learn how cancer can be inherited and what steps can be taken to prevent and detect cancer as early as possible.
Can hereditary diseases be prevented?
In some cases, prevention of hereditary cancer and other diseases like polyposis syndrome is possible. For example, we can help prevent polyps from developing into tumors by removing and managing them with an endoscopy, which is a way to watch and remove them – thereby decreasing the risk of cancer.
At Children's Colorado, we are skilled in advanced endoscopic techniques including single-balloon small bowel enteroscopy and small bowel capsule enteroscopy. This leading-edge technology allows us to take the best possible care of your child.
Parents also choose our Polyposis Clinic because of:
Prevention in the uncharted world of childhood polyposis
Intestinal polyps form during childhood for a variety of reasons, many of them not well understood. Our team is collaborating to find the answers.