Background: Familial juvenile polyposis predisposes to the development of carcinoma of the colon. Optimum surgical management and recommended surveillance of affected individuals are still being defined.
Study design: A retrospective review of experience with a kindred identified in 1988 was carried out.
Results: Of 34 living members, 15 have been investigated, and histologically typical juvenile polyps were found in 11. In each instance, polyps were most numerous in the right colon, with few polyps in the descending colon and none in the rectum. Eight patients have had subtotal colectomies with ileorectal anastomoses; the remaining patients were managed by polypectomy (with one recurrence after ten years). In addition to juvenile polyps, polyps with adenomatous or villous elements were identified in three patients. One of these patients had invasive adenocarcinoma in a large mixed polyp of the cecum. Two patients with polyps had coexisting carcinoma of the stomach. All patients have been followed up with periodic upper and lower gastrointestinal endoscopy. Polyps have recurred in the rectal remnants of three patients at a mean of 36 months after subtotal colectomy. Two patients have undergone conversion to total proctocolectomy with ileoanal anastomosis and J pouch; one patient was found to have juvenile polyps in the pouch 40 months after surgery.
Conclusions: Despite the preponderance of right-sided polyps at initial diagnosis, the rapid recurrence of polyps after subtotal colectomy argues in favor of performing proctocolectomy with preservation of anal sphincter function (restorative proctocolectomy) at the time of initial surgery. Patients with a small number of polyps may choose instead to undergo periodic colonoscopy with colonoscopic polypectomy. An algorithm for surveillance and follow-up is proposed.