Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series

Juvenile polyposis syndrome is one of the hamartomatous polyposis syndromes and demonstrates phenotypic heterogeneity. All patients with juvenile polyposis develop colorectal polyps and are at risk of colorectal cancer. Small-bowel involvement is variably described. Small-intestinal cancer is reported but is rare and there is no evidence-based protocol for small-intestinal surveillance. This case series reports the small-bowel capsule endoscopy findings and genetic mutational analyses of ten adults (7-male; median age 39.2 years, interquartile range 37.4 - 42.0 years) with documented juvenile polyposis syndrome. Two patients had small-bowel polyps beyond the range of standard gastroscopy identified at capsule endoscopy: a 6-mm ileal polyp in one, and 10-mm and 6-mm ileal polyps in the second (histology unknown). Duodenal polyps were detected in a third patient at capsule endoscopy. Three further patients had previously documented duodenal polyps at surveillance gastroscopy. A SMAD4 mutation was identified in seven patients but there was no obvious association with gastric/small-bowel polyp burden. In conclusion, capsule endoscopy provided information additional to conventional endoscopy in patients with juvenile polyposis syndrome and was well tolerated. However, no lesions requiring clinical intervention were identified and polyp numbers were small. Capsule endoscopy may appropriately be used as a baseline investigation for the identification of patients with large or dense small-bowel polyps for whom ongoing small-bowel investigation would be recommended. Patients in whom polyps are confined to the colon are unlikely to require ongoing small-bowel review.