Juvenile Polyposis Syndrome

Juvenile Polyposis Syndrome is a rare condition that affects the digestive system, specifically the colon and sometimes the stomach and small intestine. It causes the growth of many polyps, which are small, benign (non-cancerous) growths in the lining of the intestines. These polyps can cause symptoms like rectal bleeding, abdominal pain, and diarrhea. Over time, the presence of multiple polyps increases the risk of developing colorectal cancer. The condition is usually inherited, meaning it can run in families. Regular monitoring is important to manage symptoms and reduce cancer risk.

Juvenile Polyposis Syndrome (JPS) is an autosomal dominant hereditary disorder characterized by the development of multiple hamartomatous polyps predominantly in the colon, but also in the stomach and small intestine. It is caused by germline mutations in tumor suppressor genes such as SMAD4 or BMPR1A, which disrupt the TGF-beta signaling pathway involved in cellular growth regulation. The syndrome presents with symptoms including gastrointestinal bleeding, anemia, and abdominal pain due to polyp burden. JPS carries a significantly increased lifetime risk of gastrointestinal cancers, particularly colorectal cancer. Histologically, juvenile polyps show abundant lamina propria and cystic gland dilation. Early diagnosis and surveillance are critical to prevent malignant transformation.