Juvenile Polyposis Syndrome

Not Verified

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].

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

Recommendation 1
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

Recommendation 1
There is currently one trial recruiting, in Memphis, TN.

Sources

No data available

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