[Management of familial polyposis coli]

Familial Multiple Polyposis Coli is an autosomal dominant hereditary illness characterized by the appearance in childhood of hundreds of colorectal polyps which inexorably undergo malignant transformation. It is accompanied by extracolonic manifestations some of which may also be life-threatening. Total colectomy should not be postponed beyond age 20 except in rare cases of an attenuated form of the disease (AAPC). Subtotal Colectomy with ileorectal anastomosis is a well-tolerated procedure with quite acceptable functional results, but the need for eventual proctectomy is about 30% at 20 years and the risk of rectal cancer is about 10% at 20 years even with close endoscopic surveillance. Total colectomy with ileal pouch-anal anastomosis is therefore the intervention of choice since it eliminates the risk of late rectal carcinoma albeit with more serious morbidity and less good functional results. Desmoid tumors are the leading cause of death in patients who have undergone total colectomy. NSAID's, tamoxifen, and chemotherapy are used preventively and therapeutically; surgical excision is sometimes required. Duodenal adenomas are present in almost 100% of these patients post-colectomy and the risk of duodenal cancer is 200 times higher than in the general population. Endoscopic surveillance of the duodenum is essential and prophylactic duodenal resection should be considered when duodenal polyposis is extensive.