Familial Polyposis Health Article

Treatment

The only definitive treatment for FAP is surgical removal of the lower intestine. Since the goal is to prevent cancer, the operation is done as soon as adenomatous polyps are found on sigmoidoscopy. Waiting until a polyp becomes malignant is unsafe, as the cancer may invade surrounding tissues.

There are several choices about the type of surgery to treat this condition. Some authorities advocate removal of the colon, leaving the rectum or lowest portion of the intestine in place. The small intestine can be attached to the rectum, allowing normal bowel function. This is often called ileorectal anastomosis. Others argue that this section is also liable to develop polyps, needs to be monitored regularly, and may require eventual removal.

Excision of the entire lower intestine with preservation of normal bowel function is possible. This entails a more complex surgical procedure. The patient may experience more complications and a longer recovery period. However, the risk of polyp development in this area is very low. Periodic examination of the intestine may not be needed once healing is complete.

The more intricate surgery may be referred to as a Jpouch procedure, an ileal pouch-anal anastomosis, a restorative proctocolectomy, or an ileoanal reservoir procedure. It involves creating a "pouch" of tissue from the small intestine, which is attached to the anus. This serves as a reservoir or holding area for stool, much as the rectum does normally. The surgery is often done in several stages. A temporary ileostomy, which creates an opening of the small intestines onto the abdomen, is required. When all procedures are completed, and after a recuperation period, the patient regains normal bowel function through the anus.

Some researchers suggest that as genetic testing becomes more developed, the specific portion of the gene involved may dictate the type of surgery chosen. Those at high risk of developing rectal polyps may be advised to have the more complex operation. FAP patients felt to be at lower risk for rectal polyps might be counseled to consider the less radical surgery.

Medical therapy to treat the adenomatous polyps has been attempted. Some nonsteroidal anti-inflammatory drugs have been effective in reducing the number and size of the polyps. It is possible that these agents will be used as an additional treatment for FAP, but they are unlikely to replace surgery.

Individuals with FAP are at increased risk for cancers of the upper digestive tract including the upper portion of the small bowel (dudodenum) and the channels where bile flows (biliary tract). Cancers of the thyroid, pancreas, and adrenal gland are also more commonly found among FAP patients. Periodic examination for the development of malignancy in these areas is considered part of the treatment of FAP. In some cases, such as cancer involving the duodenum, the tests themselves carry a chance of complications. The risk of the study must be weighed against the potential benefits of knowing the results. Non-malignant growths, called desmoid tumors, also occur more frequently in patients with FAP. Although they are not malignant, they grow quickly into surrounding tissues, causing many difficulties, even death in some cases.

Prognosis

The major cause of death in many patients with FAP remains colorectal cancer. One study suggested that even with improved disease recognition, social and emotional factors, such as fear of surgery, may significantly delay a patient's treatment. In recent years, the trend is towards mortality from other causes, such as desmoid tumors or cancers other than colorectal. It has been estimated that a patient with known FAP has a relative risk of dying over three times greater than that of the average population, at a given age.

Prevention

FAP cannot be prevented. Aggressive diagnosis, treatment, and follow-up monitoring are keys to successful management of the disease.

ORGANIZATIONS

Familial Polyposis Registry. Department of Colorectal Surgery. Cleveland Clinic Foundation. 9500 Euclid Ave., Cleveland OH 44195-5001. (216) 444-6470.

National Organization for Rare Disorders. PO Box 8923, New Fairfield, CT 06812-8923. (800) 999-6673. <http://www.rarediseases.org>.

Ellen S. Weber, MSN

KEY TERMS

Gene—The basic unit of heredity, made of DNA. Each gene occupies certain location on a chromosome.

Mutation—An alteration in a gene, especially one capable of producing a new trait, or a change in function.