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.
Symptoms of polyposis syndromes
- A polyp that protrudes from the rectum
- Bleeding from the rectum
- Blood in stool
- Low red blood cell count
- Skin freckling and discoloration
What causes polyps and polyposis syndromes in children?
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.
Inherited polyposis syndromes we treat in our Polyposis Clinic
In the Polyposis Clinic at Children’s Colorado, we treat:
- Juvenile polyposis syndrome
- Familial adenomatous polyposis
- PTEN hamartoma syndrome
- Peutz Jeghers
- Lynch syndrome
What happens if my child has an inherited polyposis syndrome?
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.
What can I expect from my visit to the Polyposis Clinic?
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:
How do I know if the cancer or disease in my family is hereditary?
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:
- Multiple family members diagnosed with polyps, tumors, or cancer, especially if under the age of 50
- Polyps, tumors, or cancer in multiple generations
- Multiple cancers (two or more) diagnosed in an individual
- Cancer or polyps in an individual who also has two or more anomalies (meaning something that is unusual or different) such as:
- Birth defects
- Abnormal growth and/or development, such as large head size and developmental delay
- Other major medical issues unrelated to polyps or cancer, such as congenital hypertrophy of the retinal pigment epithelium (CHRPE)
- Multiple lumps, bumps, or abnormal pigmentation (dark or light spots) on skin
- Rare or certain types of cancer/tumors, such as:
- Desmoid tumor
- Lhermitte-Duclos (dysplastic gangliocytoma of the cerebellum)
- Ovarian or testicular stromal tumors
- Pituitary adenoma
- Psammomatous melanotic schwannoma
- Kidney cancer
- Urothelial carcinoma
Questions about inherited polyposis syndromes and hereditary diseases
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.
Why choose Childrens Hospital Colorado for polyposis syndrome diagnosis and treatment?
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:
- Our extensive experience in caring for kids with polyposis syndromes
- Our providers are national leaders in the field with published work about hereditary cancer
- Our multidisciplinary approach, which allows families to see multiple specialists in one visit