What is Juvenile Polyposis Syndrome?

This is a condition which as the name suggests affects children, teenagers or young adults.

Juvenile Polyposis Syndrome

(JPS) is a condition which is characterized by multiple polyps occurring in the gastrointestinal tract. Polyps are masses of cells growing abnormally from the membranous inner lining of the lumen of the colon or stomach.

The good news is that these polyps seldom become malignant or cancerous. However, there is an increased risk of adenocarcinoma with this condition. The latter is a cancer of the epithelium ( glandular tissue in the inner lining of the stomach) . The lifetime risk of developing gastrointestinal cancer varies between 9% to 50%. The condition occurs in approximately 1 in 100,000 individuals worldwide.

It can occur randomly in an individual or it can be inherited. Familial juvenile polyposis is caused by mutations in two genes, SMAD 4 on chromosome 18 and PTEN on chromosome 10.

The World Health Organization has laid down some guidelines or criteria to help in the diagnosis of the said syndrome. The presence of any of the following condition is essential to detect the condition.


The colon or rectum having five juvenile polyps.


The gastrointestinal tract being infested with polyps.


Anyone with a family history of juvenile polyps having any number of polyps.

Symptoms of Juvenile Polyposis Syndrome

The polyps are found to be red in color and vary in shape and size. The polyps can be with stalks or without stalks and have the following symptoms:

  • Abdominal pain
  • Bleeding from the polyps when they are present in the rectum
  • Diarrhea
  • Anemia

Diagnosis of JPS

There are several options that screen one from the risks of JPS which are as follows:

  • Rectal bleeding, unexplained anemia, abdominal pain, diarrhea, constipation or changes in bowel habits need to be investigated.
  • Colonoscopy and upper endoscopy is essential to be done at age 15 or earlier especially if there is a family history.
  • If polyps are found then it is essential to remove them.

Treatment of Juvenile Polyposis Syndrome

  • People with multiple polyps needs surgery. Surgery is mostly conducted through an endoscopic procedure involving excision of the polyps. It is known as Polypectomy.
  • If the polyps in the colon turn cancerous, then they need to be removed through a procedure known as surgical colectomy. This procedure removes parts of the colon which is affected by cancer.

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