Familial adenomatous polyposis (FAP) is a rare, inherited condition that causes colorectal cancer. FAP results in the development of hundreds of polyps inside the large intestine.
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FAP is caused by a genetic defect. Polyps usually begin developing during the teenage years, and 95% of people with FAP will have polyps by age 35. The average person with FAP will have colorectal cancer found by the age of 39 years.
The primary risk factor for FAP is having family members with this condition. However, this condition can occur in people without a family history of the condition. This is because the genetic defect can be caused by a new mutation in the affected person.
In the early stages, there may be no symptoms. When symptoms do occur, they may include: Rectal bleeding or blood in the stoolDiarrheaCramping pain in the stomachWeight lossBloatingFatigue
You will be asked about your symptoms and medical history. A physical exam will be done. An eye exam may also be done to look for lesions in the retina.
Your bodily fluids and tissues may be tested. This can be done with: DNA analysis to determine if you have the defective geneBiopsy
to see if polyps are cancerous
An endoscopy is a thin, lighted, telescope-like tube with a camera that is used to look for polyps inside the intestines. Endoscopy for FAP may include: An exam of the stomach and the upper part of the small intestineAn exam of the rectum and colon
FAP is treated with surgery. Since FAP causes so many polyps, they cannot be removed individually. Therefore, the goal of surgery is to remove the portion of the intestine that contains the cancerous or precancerous polyps. The surgical procedure used depends on the length of intestine involved.
The 3 main surgical treatments are: Colectomy
with ileorectal anastomosis (IRA)
—Removal of the colon except for a small section above the rectum. The last part of the small intestine is connected to the remaining part of the colon, preserving bowel function.
Restorative proctocolectomy (pouch)
—Removal of the colon and rectum, leaving the anal canal. A pouch is created with the lower end of the small intestine. The pouch mimics the function of the rectum. The pouch is connected to the anal canal, preserving bowel function.
Total proctocolectomy with permanent ileostomy
—Removal of the colon, rectum, and anal canal. A permanent ileostomy is created. An ileostomy is a surgical opening through the wall of the abdomen. It is used as a path for waste material to leave the body. After an ileostomy, you will wear a special bag to collect body waste.
Duodenal polyps in the small intestine are managed with endoscopy. An endocope is used to find the polyps. Once found, the surgeon inserts small tools through a tube in the endoscope and removes them. In some cases, surgery to remove the duodenum may be done.
Medications are used shrink polyps and to prevent new ones from forming. Medications include: Non-steroidal anti-inflammatory drugs (NSAIDs)COX-2 inhibitors
The remaining intestine will need to be inspected by endoscopy as often as every 6 months for the rest of your life. Because the risk of developing other polyps that could grow to become cancer is so high, it is crucial for your doctor to closely monitor your condition. If more polyps arise, further surgery may be required.
There are no current guidelines to prevent FAP.
Cleveland Clinic website. Available at:
http://my.clevelandclinic.org/disorders/inherited_colon_cancer/dd_fap.aspx. Accessed June 11, 2015.
Familial adenomatous polyposis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated February 28, 2014. Accessed June 11, 2015.
Familial adenomatous polyposis
. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis. Updated October 2013. Accessed June 11, 2015.
Jasperson KW, Burt RW.
APC-associated polyposis conditions. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1345. Updated March 27, 2014. Accessed June 11, 2015.
Last reviewed June 2015 by Mohei Abouzied, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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