Surgical treatment in familial adenomatous polyposis

Abstract

Familial adenomatous polyposis (FAP) is a dominantly inherited condition caused by germline
mutation of the APC gene resulting in formation of numerous large bowel adenomas in late
childhood or adolescence. Unless these are removed, colorectal cancer inevitably develops.
Prophylactic surgical treatment is required to prevent this. In surgical decision making, considerations
should include genotype-phenotype correlation, perioperative morbidity and risk
of impaired sexual and reproductive function in young patients after major pelvic surgery.
Colectomy with ileorectal anastomosis remains an appropriate prophylactic procedure in many
patients. However, in those with high-density polyposis or a genotype predictive of aggressive
disease, restorative proctocolectomy is preferable. There is a range of other features, as FAP
is essentially a systemic disease. These include duodenal and peri-ampullary adenomas and
carcinoma, desmoid tumors, papillary-type thyroid carcinoma and pancreatic carcinoma among
others. With improved management that reduces the risk of colorectal cancer, these extracolonic
manifestations have become of increasing clinical significance. For all FAP patients, including
those undergoing proctocolectomy, thorough surveillance is of vital importance as there
remains a risk of developing neoplasia. Despite advances in surgical techniques, screening and
surveillance, life expectancy in patients with FAP is still less than that of the general population.

Keywords familial adenomatous polyposis, colorectal cancer, ileorectal anastomosis, restorative
proctocolectomy, ileoanal pouch

Ann Gastroenterol 2012; 25 (3): 201-206