About Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is a genetic condition that is diagnosed when a pathogenic variant in the APC gene affects the normal growth and function of a cell. Most individuals with FAP develop more than 100 colon polyps (clumps of cells) along the lining of the colon, which can become malignant (cancerous) over time. The number of polyps and the time frame in which they become malignant is dependent on the location of the pathogenic variant in the APC gene. Some individuals present with a milder form of FAP, known as attenuated FAP (AFAP), during which 20-100 polyps develop at a later age in life than is typical in classic FAP.
Cancer risks associated with familial adenomatous polyposis include:
- Biliary tract cancer
- Cancers of the brain/central nervous center
- Colorectal/colon cancer
- Gastric/stomach cancer
- Pancreatic cancer
- Small intestine cancer
- Thyroid cancer
Cancer Screening and Risk Reduction for Familial Adenomatous Polyposis
Understanding your risk for developing cancer as well as the options available to you for prevention, early detection, and treatment can help improve your quality of life. Clinical management guidelines for surveillance and risk-reduction strategies differ from person to person and should involve a shared decision between you and your healthcare provider who takes into account risk factors specific to you.
Recommendations may include:
- Annual colonoscopy (beginning between the ages of 10 and 15)*
- Annual thyroid exam (beginning in late teens)
- Upper endoscopy (beginning between the ages of 20 and 25; frequency depends on number of polyps)
*If polyps cannot be managed through colonoscopy or if colon cancer occurs, surgery to remove the entire colon (colectomy) and the small intestine to the rectum or anus may be recommended.
Treating Familial Adenomatous Polyposis at UT Health Austin
Our genetic counselors help patients understand the benefits, limitations, and risks associated with undergoing genetic testing as well as how genetic testing affects healthcare management so that they can make informed decisions about their health. When discussing test results, our genetic counselors will work with you to develop a cancer screening plan specific to your needs.
Through our Multidisciplinary Case Conferences, we collaborate with our colleagues at The University of Texas at Austin and the Dell Medical School to stay informed of the latest research, diagnostic, and surveillance techniques, and we partner with existing providers in the Austin area to ensure we can successfully connect you with services recommended as part of your personalized cancer screening plan. We also provide you with community resources and help coordinate high-risk surveillance so that you have support every step of the way.
Care Team Approach
At UT Health Austin, we take a multidisciplinary approach to your care. This means you will benefit from the expertise of multiple specialists across a variety of disciplines caring for you in one place to avoid having to schedule multiple appointments with providers at locations all over the city. The Hereditary Cancer Screening and Risk Reduction care team includes clinical genetic counselors, medical oncologists, surgical oncologists, nurses, advanced practice providers, dietitians, social workers, and more as well as other members of the CaLM Care Team, who work together to help you get back to the things in your life that matter most to you. We also work alongside specialists across Cancer Fertility Preservation, Digestive Health, Women’s Health, Primary Care, Dermatology, and more.