Juvenile Polyposis Syndrome

Juvenile Polyposis Syndrome (JPS) is an inherited condition characterized by the development of multiple juvenile polyps in the gastrointestinal tract, particularly in the colon and rectum. Despite the name "juvenile," this refers to the type of polyp (histologically distinctive hamartomatous polyps), not the age of onset—though symptoms often begin in childhood or adolescence.

The polyps in JPS are benign (non-cancerous) but can cause significant problems. They may bleed, leading to anemia from chronic blood loss. Large or numerous polyps can cause abdominal pain, diarrhea, or rectal prolapse (when polyps protrude from the rectum). Some individuals may have polyps in the stomach and small intestine as well as the colon.

While individual juvenile polyps are benign, people with JPS have an increased lifetime risk of developing gastrointestinal cancers, particularly colorectal cancer (9-50% lifetime risk) and gastric cancer (up to 21% risk). This risk appears related to the large number of polyps and their potential for dysplastic (precancerous) changes over time.

JPS is caused by mutations in the SMAD4 or BMPR1A genes, both of which are involved in the TGF-beta signaling pathway that regulates cell growth. The condition is inherited in an autosomal dominant pattern. Regular surveillance with colonoscopy and upper endoscopy is essential to remove polyps and detect any cancerous changes early. SMAD4 mutations are also associated with hereditary hemorrhagic telangiectasia.

NutraHacker examines the following genes related to Juvenile Polyposis Syndrome:

• BMPR1A
• SMAD4

For more information about your own genetic profile as related to Juvenile Polyposis Syndrome, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.