Juvenile Polyposis Syndrome

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

JPS is an autosomal dominant condition (affecting BMPR1A or SMAD4 genes) characterized by the development of hamartomatous polyps along the GI tract with onset generally prior to the age of 20. Polyps are typically benign but there is an elevated risk of malignant transformation [more].

Common symptoms

Patients may have a small number or >100 GI tract polypsoften most in the proximal colon. Aside from polypspatients may display cutaneous features of telangiectasias and nevi. Most patients are asymptomatic initiallyover time polyps may bleed and cause anemia [ ].

When to suspect

  • Recommendation 1

    JPS can be diagnosed by the detection of >5 juvenile polyps of the colon/rectum, juvenile polyps in upper GI tract, presence of juvenile polyps with a positive family history, or positive genetic testing of BMPR1A or SMAD4 [more].

How to test

  • Recommendation 1

    JPS can be diagnosed by the detection of >5 juvenile polyps of the colon/rectum, juvenile polyps in upper GI tract, presence of juvenile polyps with a positive family history, or positive genetic testing of BMPR1A or SMAD4 [more].

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Colonoscopy with polypectomy is reasonable for patients with a lower polyp burden

  • Recommendation 2

    patients with large numbers of polyps or polyps in difficult locations may need prophylactic surgery

  • Recommendation 3

    there is ongoing debate over the optimal extent of prophylactic surgery [more].

Primary care

  • Recommendation 1

    Lifetime colorectal cancer risk in JPS is as high as 68% without prophylactic surgery [more]. Colonoscopies should begin when symptomatic, but no later than age 15 if diagnosis is known

  • Recommendation 2

    repeat annually when polyps are present

  • Recommendation 3

    can extend to every 3 years if patient is polyp-free. Individuals without a pathologic mutation can extend to every 5 years. [more]

Further support

Clinical trials

Clinical Trials

Sources

No data available

Interested in learning more about Juvenile Polyposis Syndrome?

Follow to receive regular updates to the latest research development on this disease via email newsletter.