Juvenile polyposis syndrome (JPS) is a hereditary condition that is characterized by the presence of hamartomatous polyps in the digestive tract. Polyps may frequently develop in a person with JPS by age 20. The number of polyps a person has during his or her lifetime can range from around 5 to more than 100. Most juvenile polyps are noncancerous, but there is an increased risk of cancer of the digestive tract, such as stomach, small intestine, colon, and rectum cancers, in families with JPS.
HOW IS JUVENILE POLYPOSIS SYNDROME DIAGNOSED?
Diagnosis is based on the clinical findings, family history, endoscopic findings and histological analysis of the polyps. Molecular genetic testing may also be useful for confirming the diagnosis in carriers of SMAD4 and BMPR1A gene mutations.
HOW IS JUVENILE POLYPOSIS SYNDROME TREATED?
Management should involve routine colonoscopy and if the number of polyps remains low endoscopic polypectomy is the gold standard for treatment. Due to the risk of cancer and polyposis extension, surgical colectomy associated with proctectomy and ileoanal anastomosis may also be proposed.
DID YOU KNOW?
People with JPS are considered to be at an increased risk for colorectal, stomach, small intestine, and pancreatic cancers. The overall estimated cancer risk associated with JPS is 9% to 50%, but the risks for each specific type of cancer have not been determined.