What is familial adenomatous polyposis?

Familial adenomatous polyposis (FAP) is a rare condition that causes hundreds of polyps to form in the large intestine and colon – sometimes even thousands. They can also develop in the small intestine. The tumors begin forming during the teenage years and can develop into cancer by the age of 40 if not treated.

There are three variations of FAP.

• Attenuated familial adenomatous polyposis (AFAP). People with this variant have fewer colon polyps, and cancer develops in their 40s-50s.
• Gardner syndrome. This type of FAP not only causes polyps to develop in the colon, but also causes non-cancerous skin tumors and tumors in the soft tissues and bones.
• Turcot syndrome is a rare, also inherited condition. People with this condition have an even higher risk of adenomatous polyps and cancer. They are also prone to medulloblastoma, a type of brain cancer.

Who gets familial adenomatous polyposis?

This genetic mutation is most often a hereditary disorder. However, in 25 to 30 percent of people, this mutation can happen on its own. Genetic testing is done to determine an individual’s risk.

Problems associated with familial adenomatous polyposis

• Periampullary polyps can develop in the area where the pancreas and bile ducts meet the duodenum. If detected early, they can be removed, but if left unchecked they can become cancerous.
• Gastric fundic polyps can develop in the stomach lining.
• People with FAP can be at risk of developing cancer in other organs, the thyroid, central nervous system, or adrenal glands.

People with FAP are also at risk for benign skin tumors, benign bone growths, pigmental changes in the retinas, anemia, and dental abnormalities.

Treatment for familial adenomatous polyposis

In order to prevent the polyps from turning cancerous, surgery is performed to remove the large intestine. Polyps often form in the duodenum (the first part of the small intestine), but those are usually monitored and the polyps frequently removed.

The surgery required could include:

• Subtotal colectomy with ileorectal anastomosis. Your surgeon removes your large intestine, but leaves your rectum intact. The bottom of your small intestine (ileum) is attached to your rectum.
• Total proctocolectomy with continent ileostomy. Your surgeon removes your colon and rectum and makes an opening (stoma) in your abdominal wall for an ileostomy. Solid waste passes through the stoma into a bag outside your body.
• Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery). Your surgeon removes your colon and rectum, but creates a pouch with the bottom of your small intestine so you can have normal bowel movements.

Colorectal Disease Specialties We Treat