FAP

Familial Adenomatous Polyposis (FAP) is a rare, inherited condition characterized by the development of many (hundreds to thousands) polyps (adenomas) in the lining of the colon and rectum. People with FAP have a greatly increased risk of developing colorectal cancer at a young age.

Symptoms

The symptoms of FAP can vary and may include:

• Abdominal pain
• Diarrhea
• Rectal bleeding
• Anemia due to chronic bleeding

Causes

FAP is caused by mutations in the APC gene. This gene provides instructions for making a protein that plays a critical role in several cellular processes. The protein helps control how often a cell divides, how it attaches to other cells within a tissue, and whether it moves within or away from a tissue.

Diagnosis

FAP is diagnosed through a combination of physical examination, medical history, and genetic testing. Other tests that can help diagnose FAP include:

• Colonoscopy
• Upper endoscopy
• CT scan
• MRI

Treatment

Treatment for FAP may involve surgery to remove the colon and rectum, medication to reduce the number of polyps, and regular screening to detect polyps and cancer early.

See also

• Colorectal cancer
• Genetic testing
• APC gene

References

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