Medical knowledge, Patient Education
Familial Adenomatous Polyposis
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is a genetic disorder that causes cancer of the colon and rectum, which are parts of the large intestine. People with this condition develop more than 100 noncancerous growths (polyps) in the colon. If this condition is not treated, the polyps will turn into colon cancer by age 40. This condition also increases the risk of other types of cancer.
People with this condition usually develop polyps in the colon during the teenage years. To prevent cancer, surgery is usually done to remove all or most of the colon.
What are the causes?
This condition is caused by gene mutations that are passed down from parents to their children (inherited). Gene mutations are abnormal changes in genes.
Sometimes, the cause of this condition is not known. In these cases, the gene mutations happen on their own without being inherited from a family member.
What increases the risk?
You are more likely to develop this condition if you have a family history of FAP.
What are the signs or symptoms?
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A large number of polyps in the colon.
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Growths in places other than the colon and harmless bone tumors.
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Changes in bowel movements or blood in the stool (feces).
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Stomach pain or cramps.
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Weight loss that cannot be explained.
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Tooth problems.
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Diarrhea or vomiting.
How is this diagnosed?
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Your health history.
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A physical exam.
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Tests such as a colonoscopy to view the entire colon to check the colon for polyps.
Genetic counseling, followed by genetic testing with a blood or saliva test, is done to look for the mutations that cause this condition.
How is this treated?
This condition is treated with surgery to remove all or most of the colon (colectomy, or subtotal colectomy). Regular screening with a colonoscopy may be needed before surgery. People with this condition may need regular colonoscopies starting as young as age 10.
Follow these instructions at home:
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Take over-the-counter and prescription medicines only as told by your health care provider.
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Monitor your condition and tell your health care provider about any changes you notice.
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Ask your health care provider about the importance of genetic counseling and testing for other family members.
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Consider joining a support group with others who have this condition.
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Keep all follow-up visits. This is important.
Where to find support
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Genetic and Rare Diseases Information Center, National Institutes of Health: rarediseases.info.nih.gov
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American Cancer Society: cancer.org
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National Cancer Institute: cancer.gov
Contact a health care provider if:
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You have new symptoms that do not go away.
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You have stomach pain that does not go away.
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You lose weight and do not know why.
Get help right away if:
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You have blood in your stool or in the toilet after having a bowel movement.
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Your symptoms get worse.
Summary
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Familial adenomatous polyposis is a genetic disorder that causes cancer of the colon and rectum. People with this condition develop more than 100 non-cancerous growths (polyps) in their colon.
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If this condition is not treated, the polyps will turn into colon cancer. This condition also increases the risk of other types of cancer.
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A genetic test is done to look for the mutations that cause this condition.
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This condition is treated with surgery to remove all or most of the colon (colectomy, or subtotal colectomy).
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Monitor your condition and tell your health care provider about any changes you notice.
This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your health care provider.
