Juvenile Polyposis Syndrome

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JPS is a type of polyposis syndrome where the genes in the gastrointestinal tract mutate causing polyps to develop everywhere along the lining of the tract. Where there is no one-off cure for this condition, treatment can be given which largely consist of surgery. The word “Juvenile” in the medical context, doesn’t refer to the […] Read More

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Juvenile Polyposis Syndrome

Juvenile Polyposis Syndrome (JPS) is a form of polyposis where genes in the gastrointestinal tract become mutated, causing polyps all along the lining. Where there is no one-off cure for this condition, treatment can be given, which largely consists of surgery.

The word “Juvenile,” in the medical context, doesn’t refer to the age of out-of-control teenagers but rather to the way the polyps are under the microscope when observed.

“Polyposis syndrome,” however, occurs when there is a mutation in a specific gene responsible for the growth of the cells of the intestine, causing them to divide more than is needed.

What Is Juvenile Polyposis Syndrome?

juvenile polyposis syndrome
Picture Courtesy: medical.net

Juvenile polyposis syndrome (JPS) is a type of polyposis syndrome and a genetic disorder characterized by the presence of hamartomas polyps along the lining of the gastrointestinal (GI) tract. It could occur anywhere in the gastrointestinal tract, from the stomach to the rectum. Juvenile polyposis syndrome occurs in about 1 in 100,000 to 1 in 160,000 people. Most people may start developing symptoms of JPS at 20 years old.

What are Harmartomas Polyps?

Hamartomas describe noncancerous (benign) masses of normal tissue accumulating along the gastrointestinal tract, which could be in the intestines, mainly in the left colon, sigmoid colon, rectum, or other places. This accumulated tissue mass is called polyps if found inside a body structure, like the intestines. Polyps are most common in colorectal conditions, found in 15 – 20 percent of adults. It can lead to cancer, although it in itself is not cancerous.


The cause of Juvenile polyposis syndrome can be traced to a mutation in the gene that controls the development of the gastrointestinal tract; and also affects the way the gene may work together and may cause the tissues of the gastrointestinal tract to grow abnormally, leading to the formation of Polyps. It is a genetic disorder that can pass from one generation to the next (parents to children). Research shows that 75% of JPS sufferers are inherited, while 25% are not inherited and occur during child development.

What are the most common risk factors causing juvenile polyposis syndrome?

A person is more likely to have JPS if they are exposed to these factors:

  • History of polyps
  • Presence of colon or rectal cancer in the family 
  • Presence of polyps in the family
  • Obesity
  • Lack of exercise
  • Alcohol and smoking


Symptoms associated with JPS are listed below:

  • Rectum bleeding
  • Blood in the stool 
  • Diarrhea
  • Abdominal pains and cramps
  • Anemia
  • Weight loss
  • In extreme cases, the polyps may be visible in the rectum

How is Juvenile Polyposis Syndrome diagnosed?

Diagnosis of Juvenile Polyposis Syndrome (JPS)
Picture Courtesy: disease maps

Whenever the patient consults the doctor, the doctor initially asks a couple of questions to the patient regarding the symptoms and family medical record to check if it fits into any of the following categories, such as:

  • If there are more than five juvenile polyps in the intestine
  • Cases of multiple juvenile polyps along the digestive tract
  • If there are any number of juvenile polyps in the family history 
  • A blood test and stool test are done to look for the mutation. However, the blood test can be negative, yet there is the presence of juvenile polyps. Hence, there is a need for a specialist to study genetic diseases and conditions.
  • People with a JPS family history should perform a colonoscopy or upper endoscopy at an earlier age of 15 years, at the first sign of a symptom, before 20 years, and also at age 9 to 11 for a family with a high risk of JSP. If the results are negative, it is advised to repeat the tests every 1 to 3 years. 
  • Colonoscopy– During this examination, a flexible tube and a camera are passed along the intestine to look for any signs of abnormalities such as polyps, bleeding from the polyp, etc.
  • Genetic blood tests- This test helps locate the gene mutation responsible for the symptoms. 
  • People with large numbers of polyps that are too big to be removed with endoscopy will require surgery to remove part of the colon or stomach.
  • Examining the colon using the Barium Enema x-ray technique involves using a barium solution inserted into the colon through the anus to cover the colon lining, then pictures are taken.

How is juvenile polyposis syndrome treated?

It can be treated using the following method

  • The Endoscope, a method also called a “polypectomy,” is used to remove the polyps.
  • Surgery is needed when polyps are too large or too many. Sometimes also when there appears to be a risk for cancer.
  • Surgery to remove part of the stomach or intestine whenever a large number of polyps are present.
Treatment of Juvenile Polyposis Syndrome.jpg
Picture Courtesy: bmcgastroenterol

However, there is no apparent cure for polyps.

What are the complications of JPS?

They include:

  • Abdominal pain
  • Bleeding of the gastrointestinal tract
  • Bowel destruction
  • Cancer

Can juvenile polyposis syndrome be prevented?

Although the exact means of prevention is yet to be known, some habit changes and lifestyles can still reduce the risk of JPS. A few of them are listed below:

  • Make a habit of eating more fruits
  • Reduce the intake of fatty foods
  • Avoid adding too much weight
  • Avoid alcohol
  • Exercise more often
  • Maintain a healthy lifestyle
  • Eat more calcium-rich foods, such as milk, yogurt, etc.


What causes polyposis?

Polyposis occurs when a mutation in a certain gene is responsible for the growth of the cells of the intestine, causing them to divide more than is needed.

Can Juvenile Polyposis Syndrome lead to cancer?

Juvenile polyps, in themselves, are not large, but they can grow larger and become cancerous. For people with JSP, research has shown that about 10 to 15% probability of having the polyps becomes cancerous, resulting in gastrointestinal cancer.

How fast does Juvenile Polyposis grow?

Juvenile polyps tend to grow gradually, and their transition period (of developing into cancer) is estimated maybe an average of 10 years. Current evidence from the heyday of barium enema examinations shows that most polyps’ growth rate is slow. 

What foods cause polyps?

Foods that can cause polyps include:
1)      Fatty foods, such as fried foods.
2)      Red meat, such as beef and pork.
3)      Processed meat, like hot dogs, sausage, bacon, and lunch meats.

What happens when JSP is left untreated?

When Juvenile polyposis is left untreated, it could lead to severe complications such as bowel obstruction, gastrointestinal bleeding, and cancer.