Surgical treatment in familial adenomatous polyposis
Tudyka, Vera N.
Clark, Susan K.
Familial adenomatous polyposis (FAP) is a dominantly inherited condition caused by germlinemutation of the APC gene resulting in formation of numerous large bowel adenomas in latechildhood or adolescence. Unless these are removed, colorectal cancer inevitably develops.Prophylactic surgical treatment is required to prevent this. In surgical decision making, considerationsshould include genotype-phenotype correlation, perioperative morbidity and riskof impaired sexual and reproductive function in young patients after major pelvic surgery.Colectomy with ileorectal anastomosis remains an appropriate prophylactic procedure in manypatients. However, in those with high-density polyposis or a genotype predictive of aggressivedisease, restorative proctocolectomy is preferable. There is a range of other features, as FAPis essentially a systemic disease. These include duodenal and peri-ampullary adenomas andcarcinoma, desmoid tumors, papillary-type thyroid carcinoma and pancreatic carcinoma amongothers. With improved management that reduces the risk of colorectal cancer, these extracolonicmanifestations have become of increasing clinical significance. For all FAP patients, includingthose undergoing proctocolectomy, thorough surveillance is of vital importance as thereremains a risk of developing neoplasia. Despite advances in surgical techniques, screening andsurveillance, life expectancy in patients with FAP is still less than that of the general population.Keywords familial adenomatous polyposis, colorectal cancer, ileorectal anastomosis, restorativeproctocolectomy, ileoanal pouchAnn Gastroenterol 2012; 25 (3): 201-206