Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years.

Classic FAP is a clinical diagnosis. This means that it is typically diagnosed when the doctor finds many polyps, rather than by the results of a laboratory test. A person with more than 100 adenomatous colon polyps is considered to have FAP. People with FAP can also have a blood test to look for a mutation in the APC gene. If an APC gene mutation is found, other family members may be diagnosed with FAP if they are tested and have the same gene mutation. Treatment for FAP depends on the genotype. Most individuals with the APC mutation will develop colon cancer by the age of 40, although the less-common attenuated version typically manifests later in life. Accordingly, in many cases, prophylactic surgery may be recommended before the age of 25, or upon detection if actively monitored.

Treatment for the two milder forms of FAP may be substantially different from the more usual variant, as the number of polyps are far fewer, allowing more options. Various medications are being investigated for slowing malignant degeneration of polyps, most prominently the non-steroidal anti-inflammatory drugs (NSAIDs). NSAIDS have been shown to significantly decrease the number of polyps but do not usually alter management since there are still too many polyps to be followed and treated endoscopically.