Familial adenomatous polyposis: case report and review of extracolonic manifestations.

FAP, if left untreated, results in colorectal cancer. Appropriate early surgical intervention is of utmost importance. With the reduction in mortality from colorectal carcinoma, an increasing number of patients with FAP need lifelong follow-up to screen for extracolonic manifestations. Today, the major causes of death in patients with FAP who are cured of colorectal cancer, or have had a colectomy before its development, are desmoid tumors and periampullary carcinomas. In family members at risk, screening with flexible sigmoidoscopy should be initiated in adolescence; symptoms of diarrhea and rectal bleeding would warrant an even earlier examination. The upper gastrointestinal tract should be assessed endoscopically at the time the diagnosis of FAP is made. If any polyps are detected, a biopsy is essential. If no gastric or duodenal polyps are found, repeated examinations at 3-5 year intervals probably suffice in asymptomatic patients. Surgically, colectomy will be necessary. It is usually deferred until late adolescence, when it is thought that the patient will be mature enough to handle the emotional aspects of the operation as well as the possible future morbidity due to the procedure. The presence or absence of rectal polyps as well as the site and depth of any invasive rectal carcinoma will determine the appropriate surgical procedure. Alternatives must be well understood by the physician and discussed carefully with the patient preoperatively.