Juvenile Polyposis Syndrome (JPS)

What is juvenile polyposis syndrome?

Juvenile polyposis syndrome (JPS) is a genetic condition where growths, called polyps, form on the lining of your gastrointestinal (GI) tract. These polyps can occur anywhere in your GI tract, most often in your large intestine (colon) and rectum, but they can also grow in the stomach and, more rarely, the small intestine. A person with JPS can have a few polyps or more than a hundred.

What are the types of juvenile polyposis syndrome?

There are three types of juvenile polyposis syndrome (JPS):

• Juvenile polyposis of infancy (JPI): The most severe type of JPS that affects infants and children.
• Generalized juvenile polyposis: The most common type of JPS causes polyps to form anywhere in the gastrointestinal tract (stomach, colon, small intestine).
• Juvenile polyposis coli: This type of JPS causes polyps to form only in the colon.

Symptoms typically begin during childhood for generalized juvenile polyposis and juvenile polyposis coli but can affect anyone at any age.

Who does juvenile polyposis syndrome affect?

Juvenile polyposis syndrome (JPS) can affect anyone since a genetic mutation causes the condition.

The word “juvenile” refers to the way the polyps look under the microscope, and not to the age of the people who get the condition. However, most people develop symptoms of JPS by the time they are 20 years old.

Can you inherit juvenile polyposis syndrome?

Yes, you can inherit juvenile polyposis syndrome (JPS). JPS is an autosomal dominant condition, which means only one copy of the gene needs to pass from one parent during conception for you to inherit the condition. An estimated 75% of diagnoses of JPS pass in an autosomal dominant pattern and 25% occur sporadically from new genetic mutations that don’t pass from parents to children.

Is juvenile polyposis syndrome rare?

Juvenile polyposis syndrome affects an estimated one in 100,000 people worldwide.

How does juvenile polyposis syndrome affect my body?

Juvenile polyposis syndrome might cause symptoms that affect your lower abdomen and bowels. This is most noticeable after you eat or when you go to the bathroom since symptoms can affect your gastrointestinal tract that includes your stomach and rectum. The first sign that you have JPS could be bloody stool (poop). Symptoms could also include abdominal pain or diarrhea. When you first notice symptoms of JPS, visit your healthcare provider. Early detection and treatment of polyps lead to the best outcome. You will need your polyps removed, if possible, to reduce your symptoms and reduce your risk of developing cancer.

What are the symptoms of juvenile polyposis syndrome?

The main symptom of juvenile polyposis syndrome is polyps in the gastrointestinal (GI) tract. Polyps are clusters of cells and tissues. These polyps are round and stick out from the wall of your bowel on a stalk and appear as a red to purple color. Polyps form inside of your gastrointestinal (GI) tract, which includes your:

• Colon.
• Rectum.
• Small intestine.
• Stomach.

Most of the time, you won’t be able to see your polyps since they form inside your body. On rare occasions, polyps might be visible coming out of your rectum.

Symptoms caused by polyps

Some people diagnosed with juvenile polyposis syndrome don’t experience any symptoms until the polyps increase in size or multiply. Symptoms caused by polyps could include:

• Bleeding from the rectum.
• Blood in your stool.
• Chronic (long-term) weight loss.
• Constipation.
• Cramping or abdominal pain.
• Diarrhea.
• Feeling weak or tired (anemia).

Symptoms present at birth

Nearly 15% of people diagnosed with juvenile polyposis syndrome experience symptoms other than polyps when they’re born including:

• Cleft palate.
• Extra fingers or toes (polydactyly).
• Growth abnormalities of the brain, heart, genitalia or urinary tract.
• Twisted intestines (malrotation).
• Telangiectasia of the skin.

Cancer

While polyps caused by juvenile polyposis syndrome are benign (non-cancerous), people diagnosed with JPS are at a higher risk of developing certain types of cancer including:

• Colorectal cancer.
• Pancreatic cancer.
• Small intestine cancer.
• Stomach cancer.

What causes juvenile polyposis syndrome?

A mutation of the BMPR1A and SMAD4 genes causes juvenile polyposis syndrome (JPS). People with deletions in both _BMPR1A _and another gene called PTEN may present with JPI. The _BMPR1A_ and SMAD4 genes make proteins that create pathways from the cell membrane (the outside wall of the cell) to the nucleus (the center of the cell). These communication pathways are hall monitors that make sure your cells are following instructions to do their job, which is to create new cells that replace old cells.

If you have a mutation of the BMPR1A and SMAD4 genes, there isn’t a hall monitor patrolling the communication pathways to make sure your cells follow the rules. When your cells don’t follow the rules, they copy and divide too frequently, which causes the formation of polyps in your GI tract.

While two different genes cause JPS, you only need one copy of either mutation to get the condition.

People who have a mutation on the SMAD4 gene are at risk of having another condition called hereditary hemorrhagic telangiectasia (HHT).

How is juvenile polyposis syndrome diagnosed?

Your provider will diagnose juvenile polyposis syndrome (JPS) after providing a physical exam and learning more about your symptoms and understanding your family and medical history. They will diagnose JPS if any of the following are true:

• You have five or more polyps in your colon and/or rectum.
• You have polyps in other parts of your GI tract.
• You have polyps and a family history of JPS.

What tests diagnose juvenile polyposis syndrome?

If your provider suspects juvenile polyposis syndrome, they will offer a variety of tests to confirm your diagnosis. Tests could include:

• An endoscopic exam (colonoscopy): A long tube with a camera and a light at the end looks into your rectum to locate polyps in your lower GI tract.
• Genetic blood test: A genetic test takes a sample of your blood to locate the gene mutation responsible for your symptoms.

How is juvenile polyposis syndrome treated?

Treatment for juvenile polyposis syndrome focuses on removing polyps to relieve symptoms. Your provider will suggest the treatment plan that is right for you based on your age and health, the number of polyps and the location of the polyps. Types of polypectomy procedures include:

• Polyp removal during an endoscopic exam or colonoscopy.
• Surgery to remove polyps.
• Surgery to remove part of the stomach or intestines (for a large number of polyps).

Babies and children who have a single juvenile polyp often have it removed during a colonoscopy. Surgery is rare among children to remove polyps unless the polyp is large.

How do I manage my diagnosis?

You can manage your juvenile polyposis syndrome (JPS) diagnosis by staying up to date on preventative screenings that monitor your symptoms. Screenings include:

• A blood test.
• A colonoscopy.
• An upper endoscopy.

How often do I need screenings for juvenile polyposis syndrome?

You should schedule tests and preventative screenings when symptoms first appear or before your 15th birthday. If test results are negative, you should repeat screenings every three years.

If your provider only finds a few polyps and removes them or you receive surgery, you should schedule a screening every year unless no polyps are found, then screenings should be done every three years.

How soon after treatment will I feel better?

After treatment to remove your polyps, your body will need time to heal. You should feel symptoms reduce after a procedure and most people will feel better two weeks after a procedure. This timeframe varies on the number of polyps that your provider removed and how your body recovers.

How can I prevent juvenile polyposis syndrome?

Since juvenile polyposis syndrome (JPS) is a genetic condition, there is no way to prevent it. However, increased awareness, education and screenings help detect polyps, which decreases the risk of symptoms and cancer when treated early.

What can I expect if I have juvenile polyposis syndrome?

There is no cure for juvenile polyposis syndrome (JPS). Early detection and treatment of polyps lead to the best outcome and minimize severe symptoms. Polyps will most likely return over time and repeat treatment might be necessary.

People diagnosed with JPS have a 30% to 50% lifetime risk of developing cancer in their GI tract. To reduce your risk, follow your provider’s recommendation to get screenings either annually or every few years.

After a procedure to remove polyps, your provider might suggest a special temporary diet to reduce irritation to your digestive system. It is also important to stay hydrated both before and after a procedure. Talk to your provider to learn more about how you can take care of yourself before and after treatment.

When should I see my healthcare provider?

Call your healthcare provider if you have symptoms of juvenile polyposis syndrome, especially blood in your stool. Be sure to tell your provider if you have a family history of polyps or JPS since it is a hereditary condition.

What questions should I ask my doctor?

• Am I at risk of developing cancer?
• Does my family history increase my risk of having a child with this condition?
• How often do I need screenings?
• How many polyps do I have?

What is the ICD code for juvenile polyposis syndrome?

The International Classification of Diseases (ICD) is a diagnostic tool for healthcare providers to classify conditions for clinical settings. The ICD-10-CM code for juvenile polyposis syndrome is D12.6.

A note from Cleveland Clinic

It could be alarming to see blood in your stool. If you do, contact your healthcare provider to get a screening to look for polyps that could cause your symptoms. Detecting and treating polyps early leads to a positive outcome. If you have a history of juvenile polyposis syndrome in your family and you want to better understand your risk of having a child with a genetic condition, talk to your provider about genetic testing.