Juvenile Polyposis Syndrome, Lower Gastrointestinal Tract
Combined JP/hereditary hemorrhagic telengiectasia (Osler-Weber-Rendu) syndrome; Gastric JP; Generalized juvenile polyposis (JP); JP coli
JP is an autosomal dominant hereditary syndrome in which the affected individuals characteristically have multiple juvenile polyps in one or more parts of the GI tract: stomach, small bowel, or colorectum. The patients have increased risk of carcinomas of the stomach and small and large bowel. The juvenile polyps in these patients have the potential to transform to carcinoma.
The syndrome occurs in patients with no family history in roughly half of the cases.
>3 or 5 juvenile polyps in the colorectum
Juvenile polyps present in throughout the GI tract
Any number of juvenile polyps in an individual with positive family history
The incidence is about 0.6–1/100,000 in western countries.
References and Further Reading
- Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., & Vogelstein, B. (2001). Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nature Genetics, 28, 184–187.CrossRefPubMedGoogle Scholar