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Familial Adenomatous Polyposis (FAP)

About Familial Adenomatous Polyposis (FAP)

FAP is a genetic abnormality that results in the development of hundreds to thousands of polyps in the gastrointestinal tract (both upper and lower). Untreated, all of these polyps eventually progress to cancer. It is a rare cause of cancer overall, representing only 1% of colon cancer patients. It may be passed on from your parents (affecting 50% of offspring of affected parents) or develop from a new mutation. It is a very treatable condition now.

Diagnosis

Diagnosis is made by endoscopy or by specialized genetic tests ordered in conjunction with a genetic counselor in affected families. On colonoscopy, a number of polyps are seen carpeting the lining of the colon and rectum.

Treatment for Colon Polyps

There are often too many polyps to remove with an endoscope alone. Since all of these individuals will progress to cancer from the polyps, the best treatment involves surgery to prophylactically remove the entire colon and rectum before this occurs. This is usually done at the end of the teenage years around the time of high school graduation. This timing is preferred because it can be done before any real risk of invasive cancer develops (typically age 30-40). Surgery can often be performed using laparoscopic technique using small incisions and specialized “ports” to allow your surgeon to work with specialized instruments. The surgery to remove the entire colon and rectum often involves reconnecting the small bowel to the anus and a temporary “bag” where the stool contents come out to the skin while the new connection heals. This is one approach for patients with this disease.

Genetic counseling is an important part of patients with FAP, as an affected individual may have family members that require screening. Additionally, FAP patients are prone to develop polyps in the upper intestine in and just beyond the stomach that require screening endoscopy to detect.

For more information on genetics involved in FAP, visit the American Society of Colon and Rectal Surgeons website at:

https://www.fascrs.org/patients/disease-condition/hereditary-colorectal-cancer  

Related video: https://www.fascrs.org/video/hereditary-colorectal-cancer

 

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