Chapter 1 of 3 · Fundamentals
JPS genetics
Juvenile Polyposis Syndrome Genetics and SMAD4 Mutation Effects
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Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
Juvenile polyposis syndrome affects 1 in 100,000 live births
About 20% of JPS patients have a SMAD4 mutation
20% of JPS patients have BMPR1A mutation
SMAD4 mutation is associated with hereditary hemorrhagic telangiectasia
Patients with SMAD4 mutations have increased mucosal inflammation
When scoping kids with JPS and HHT, the mucosa often looks like IBD
The mucosal inflammation in SMAD4 mutations is thought to occur due to changes in regulation of TGF beta
Juvenile polyps show large dilated cystic dilation of glands lined by cuboidal epithelium on microscopy
Juvenile polyps show irritation, inflammation, and hemorrhage but no large blood vessels running through the stalk
About 95% of single polyps in children are juvenile polyps
Single juvenile polyps in children are usually on the left side
Screening for JPS is indicated when there are more than 3-5 polyps or multiple polyps over multiple scopes
Earlier presentation of JPS in childhood is associated with more severe disease and higher polyp burden
Patients with childhood-onset JPS are more likely to have anemia due to the number and size of polyps
Official screening for JPS starts at 15 years old
The first colonoscopy for JPS is recommended at the first presentation of symptoms
Initial screening for JPS includes upper endoscopy, colonoscopy, and at least one baseline capsule endoscopy to evaluate for small intestinal polyps
Knowing baseline small bowel polyp status helps guide management when patients with JPS develop abdominal pain
Patients with known small bowel polyps who develop abdominal pain warrant more aggressive imaging and consideration of push enteroscopy
Cancer in JPS is not usually detected until adulthood
Surgical resection in JPS is only indicated if symptomatic, not for prophylaxis
Endoscopy is the mainstay of JPS management for both screening and polypectomy
Follow-up for JPS includes annual screenings if polyps are identified
If no polyps are found on initial JPS screening, surveillance can be spaced to every 2-3 years