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Definition and EtiologyTop
Juvenile polyposis syndrome (JPS) is characterized by multiple juvenile polyps in the stomach and small and large intestines. Juvenile polyps are hamartomas with a dense stroma, inflammatory infiltrates, and associated mucus-filled glands in the lamina propria of the bowel. JPS is caused by a germline mutation in the BMPR1A or SMAD4 gene and is inherited in an autosomal dominant pattern.
Clinical FeaturesTop
The most common symptom is gastrointestinal (GI) bleeding (often with resultant anemia). Abdominal pain, diarrhea, and intussusception may also occur. In the case of the SMAD4 gene mutation, JPS can be associated with hereditary hemorrhagic telangiectasias. Most juvenile polyps are benign; however, there is a risk of malignant degeneration. The lifetime risk of colorectal cancer is 10% to 40%, with a lower risk of malignancy along other parts of the GI tract (ie, stomach, duodenum).
DiagnosisTop
The diagnosis of JPS requires the detection of ≥5 to 10 juvenile polyps in the colon, multiple juvenile polyps in the GI tract, or any number of juvenile polyps if the patient has a relative with juvenile polyposis.
SurveillanceTop
The first gastroscopy and colonoscopy in an asymptomatic patient with JPS should be performed at 12 to 15 years of age, with follow-up procedures performed every 1 to 3 years thereafter with removal of polyps >1 cm from the large intestine or if new symptoms occur. Some texts suggest performing random biopsies during colonoscopy.
