Polyps are tiny cherry like abnormal benign tissue growths with a flat mucosal surface or with a stalk. Juvenile polyposis syndrome (JPS) is a condition in which polyps protrude on the lining of rectum, colon, intestine, and stomach. Juvenile polyps got its name because of their histopathological appearance when seen under the microscope.
Juvenile polyposis syndrome is a hereditary condition. This means the disease is passed from one generation to another in a family. Researchers have found two genes that are linked with JPS. These genes are called BMPR1A and SMAD4. Mutation in any of these genes can give rise to juvenile polyposis syndrome. It also increases risk of developing cancer of GI tract. According to an estimate, JPS is present in 1 out of 100000 individuals. The disease is autosomal dominant. This means the disease can develop if any one of the parent carries defective gene. If one gene is defective there is 50 percent risk that son or daughter of the couple will develop JPS. The disease is often seen in people below the age of 20 years.
Often juvenile polyposis syndrome does not produce any symptoms. However, if there are large numbers of polyps in the intestine, or any other part of gastrointestinal tract, it may produce certain symptoms. Following symptoms can be detected.
- Passage of fresh blood in stool since long time.
- Painless bleeding from rectum.
- Diarrhea alternating with constipation.
- Pain in abdomen
- Skin pallor due to anemia.
- Weakness and fatigue due to anemia.
- Passage of mucus in stool.
- Significant weight loss.
In some cases, polyps may protrude out from the anus while straining at stool.
Juvenile polyposis syndrome is diagnosed if any one of these criteria are met.
- Presence of 5 or more polyps in rectum or colon.
- Presence of polyps throughout the gastrointestinal tract from stomach to rectum.
- Family history of juvenile polyps.
If the doctor suspects polyps to be juvenile polyps, he may perform colonoscopy. It is a test that is carried out with an endoscope. The instrument is inserted into the rectum and upwards into the colon. The doctor can visualize inside of the colon with the attached camera to the endoscope. If few polyps are detected, the doctor removes them with the colonoscope and sends for histopathological test. Microscopic findings can confirm the diagnosis. Further confirmation is possible with blood test. This test will detect the gene mutation on one of the possible gene.
Can This Be Treated?
JPS cannot be treated with any medicine. It is a hereditary disease. The main aim of treatment is to identify the polyps and to remove them before they become too many or cancerous. If there are few juvenile polyps, the doctor can remove it with the help of endoscope. However, in case of large number of polyps, patient may need surgical removal of a part of intestine or stomach. Regular screening for growth of polyps is extremely essential part of treatment.
Prognosis: Patient who has JPS has 9 to 50 percent chances of developing cancer of stomach, pancreas or colon and rectum. Hence screening is extremely important because if at all a polyp is found, it can be removed and further complications can be reduced. Patient because of severe anemia may need frequent blood transfusions to elevate hemoglobin and iron level.