Pediatrics & Therapeutics
Open Access

Abstract

Familial adenomatous polyposis syndrome in children: Evidence based screening program and intervention

D Dean Potter Jr

Familial adenomatous polyposis (FAP) is an autosomal dominant polyposis syndrome classically characterized by mutation in the APC gene on the long arm of chromosome 5. These mutations results in hundreds to thousands of adenomatous polyps in the colon and rectum early in life. Progression to colorectal cancer occurs by age 40-50 with rare malignancy occurring in teenagers. Thus screening protocols have been developed to reduce the risk of colorectal and other associated malignancy in these people. Review of our history with children with FAP revealed approximately 30% of children had extraintestinal manifestations including papillary thyroid cancer and hepatoblastoma. The mean age of polyp detection was 12 years; however, 37% of our patients were younger than 10 years of age when polyps were discovered. Thus we have recommended beginning screening at 7 years of age or at same age of other family members if polyps detected younger than 7 years of age. Once polyp burden is >30 or if symptoms develop, consideration for total proctocolectomy with ileal pouch anal anastomosis (IPAA) is advised. Our data shows that the mean age at IPAA is 15 years of age. Older children tend to undergo 2 stage procedures versus younger children tend to have more 1 stage procedures. Early postoperative complications occurred in 20% of patients with 10% requiring a reoperation. 20% of patients developed polyps in the rectal cuff, thus continued monitoring even after IPAA is indicated. 99% of patients has a functioning IPAA at the time of last follow up. Thus we advocate for early, routine screening for polyps in children with FAP. Once the polyp burden is high, then IPAA is the procedure of choice. Ongoing screening is required for recurrence of rectal and duodenal polyps, in addition to thyroid nodules.

Published Date: 2020-08-28;