Familial Adenomatous Polyposis

(FAP)

Definition

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.
Colon Polyp
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Causes

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.

Risk Factors

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.

Symptoms

In the early stages, there may be no symptoms. When symptoms do occur, they may include:
  • Rectal bleeding or blood in the stool
  • Diarrhea
  • Cramping pain in the stomach
  • Weight loss
  • Bloating
  • Fatigue

Diagnosis

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 gene
  • Biopsy 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 intestine
  • An exam of the rectum and colon

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