Juvenile polyposis syndrome
Genetic condition causing multiple hamartomatous polyps in the GI tract.
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Juvenile polyposis syndrome is an autosomal dominant genetic condition marked by multiple juvenile polyps in the gastrointestinal tract. Although polyps usually appear before age 20, the term juvenile refers to the polyp type (a benign hamartoma) rather than the patient's age. Most polyps are non-neoplastic and self-limiting, but there is an elevated risk of adenocarcinoma.
Quick Facts
- Causes
- Genetic mutation in BMPR1A or SMAD4
Facts from the source article.
Genetics
Juvenile polyposis syndrome may occur sporadically or be inherited in an autosomal dominant manner. Mutations in BMPR1A and SMAD4 are associated with the condition. Gene testing can identify non-symptomatic family members at risk, though a known familial mutation typically does not alter treatment.
It may assist affected individuals with reproductive choices. Mutations in PTEN were once thought to cause juvenile polyposis syndrome but are now recognized to produce a similar clinical picture due to Cowden syndrome or other PTEN hamartoma tumor syndrome phenotypes. SMAD4 mutations may also be linked to hereditary hemorrhagic telangiectasia.
Did You Know?
- Affected individuals may present with abdominal pain, diarrhea, or anemia.
- Polyps can be sessile or pedunculated hamartomatous polyps on colonoscopy or sigmoidoscopy.
More in Syndromes Affecting the Gastrointestinal Tract
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Juvenile polyposis syndrome (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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