Familial adenomatous polyposis (FAP) is a rare, inherited condition that causes extra tissue (polyps) to form in your large intestine (colon) and rectum. Polyps can also occur in the upper gastrointestinal tract, especially the upper part of your small intestine (duodenum). If untreated, the polyps in the colon and rectum are likely to become cancerous in your 40s.
Most people with familial adenomatous polyposis eventually need surgery to remove the large intestine to prevent cancer. The polyps in the duodenum also can develop cancer, but they can usually be managed by careful monitoring and removing polyps regularly.
Familial adenomatous polyposis is caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the genetic abnormality from a parent. But in about 25 percent of cases, the genetic mutation occurs spontaneously.
The abnormal gene causes hundreds or even thousands of polyps to grow in your colon and rectum, usually starting by your mid-teens. The polyps are nearly 100 percent certain to develop into colon cancer or rectal cancer by the time you're in your 40s.
Familial adenomatous polyposis can cause other complications:
- Duodenal polyps. These polyps grow in the upper part of your small intestine and may become cancerous. But with careful monitoring, duodenal polyps can often be detected and removed before cancer develops.
- Periampullary polyps. These polyps occur where the bile and pancreas ducts enter the duodenum (ampulla). Periampullary polyps might become cancerous but can often be detected and removed before cancer develops.
- Desmoids. These noncancerous masses can arise anywhere in the body but often develop in the stomach area (abdomen). Desmoids can cause serious problems if they grow into nerves or blood vessels or exert pressure on other organs in your body.
- Other cancers. Rarely, FAP can cause cancer to develop in your thyroid gland, central nervous system, adrenal glands, liver or other organs.
- Noncancerous skin tumors.
- Noncancerous bone tumors.
- Pigment changes in the retina of your eye.
- Dental abnormalities.
Familial adenomatous polyposis care at Mayo Clinic
Oct. 20, 2015
- Ahnen DJ, et al. Clinical manifestations and diagnosis of familial adenomatous polyposis. http://www.uptodate.com/home. Accessed May 11, 2015.
- Familial adenomatous polyposis. Cancer.Net. http://www.cancer.net/cancer-types/familial-adenomatous-polyposis. Accessed May 11, 2015.
- Leoz ML, et al. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. The Application of Clinical Genetics. 2015;8:95.
- Familial adenomatous polyposis. Merck Manual Professional Version. http://www.merckmanuals.com/professional/gastrointestinal-disorders/tumors-of-the-gi-tract/familial-adenomatous-polyposis#. Accessed May 11, 2015.
- Ravi V, et al. Desmoid tumors: Epidemiology, risk factors, molecular pathogenesis, clinical presentation, diagnosis, and local therapy. http://www.uptodate.com/home. Accessed May 12, 2015.
- Bonis PAL, et al. Familial adenomatous polyposis: Screening and management of patients and families. http://www.uptodate.com/home. Accessed May 11, 2015.
Familial adenomatous polyposis