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| Disease found: | Juvenile Polyposis Syndrome |
| Current as of: | October 8, 2024 |
| 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]. |
| Signs and Symptoms: | Patients may have a small number or >100 GI tract polyps, often most in the proximal colon. Aside from polyps, patients may display cutaneous features of telangiectasias and nevi. Most patients are asymptomatic initially; over time polyps may bleed and cause anemia [more]. |
| Diagnosis: | 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]. |
| Treatment: | Colonoscopy with polypectomy is reasonable for patients with a lower polyp burden; patients with large numbers of polyps or polyps in difficult locations may need prophylactic surgery; there is ongoing debate over the optimal extent of prophylactic surgery [more]. |
| Clinical Management: | 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; repeat annually when polyps are present; can extend to every 3 years if patient is polyp-free. Individuals without a pathologic mutation can extend to every 5 years. [more] |
| Referral: | Large academic pediatric hospitals may have dedicated clinics for JPS, such as Boston Children’s Hospital, Boston MA, Children’s Hospital of Philadelphia, Philadelphia PA, and Nationwide Children’s Hospital, Columbus OH. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | There is currently one trial recruiting, in Memphis, TN. |