Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an inherited disorder that causes the development of many polyps in the colon. These polyps have the potential to develop into colon cancer if left untreated.

FAP is caused by a mutation in the APC gene, which is responsible for regulating cell growth and division. People with FAP have a high risk of developing colon cancer, often at a young age (before age 50).

Symptoms of FAP may include:

  • Abdominal pain
  • Rectal bleeding
  • Changes in bowel habits (diarrhea or constipation)
  • Fatigue
  • Unexpected weight loss

Diagnosis of FAP is usually made through genetic testing, which can determine if a person has an inherited mutation in the APC gene. A colonoscopy can also be performed to identify polyps in the colon.

Treatment for FAP typically involves removing the entire colon (colectomy) to prevent the development of colon cancer. This can be done through traditional open surgery or a minimally invasive procedure. In some cases, a temporary ileostomy may be necessary, where the small intestine is attached to an opening in the abdominal wall to allow waste to be collected in a bag outside the body. After the colon has been removed, regular screening for polyps in the small intestine and other parts of the digestive system is recommended to monitor for the development of cancer.

Living with FAP can be challenging, but with appropriate care and treatment, people with FAP can live long and healthy lives.

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