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Familial Adenomatous Polyposis

By Elliot M. Livstone, MD, Sarasota Memorial Hospital, Sarasota, FL

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Patient Education

Familial adenomatous polyposis (FAP) is a hereditary disorder causing numerous colonic polyps and resulting in colon carcinoma by age 40. Patients are usually asymptomatic but may have heme-positive stool. Diagnosis is by colonoscopy and genetic testing. Treatment is colectomy.

FAP is an autosomal dominant disease in which 100 adenomatous polyps carpet the colon and rectum. The disorder occurs in 1 in 8,000 to 14,000 people. Polyps are present in 50% of patients by age 15, and 95% by 35. Cancer develops before age 40 in nearly all untreated patients.

Patients also can develop various extracolonic manifestations (previously termed Gardner syndrome), both benign and malignant. Benign manifestations include desmoid tumors, osteomas of the skull or mandible, sebaceous cysts, and adenomas in other parts of the GI tract. Patients are at increased risk of cancer in the duodenum (5 to 11%), pancreas (2%), thyroid (2%), brain (medulloblastoma in < 1%), and liver (hepatoblastoma in 0.7% of children < 5).

Symptoms and Signs

Many patients are asymptomatic, but rectal bleeding, typically occult, occurs.


  • Colonoscopy

  • Genetic testing of patient and 1st-degree relatives

  • Offspring screened for hepatoblastoma

Diagnosis is made by finding > 100 polyps on colonoscopy. Diagnosed patients should have genetic testing to identify the specific mutation, which should then be sought in 1st-degree relatives. If genetic testing is unavailable, relatives should be screened with annual sigmoidoscopy beginning at age 12, reducing frequency with each decade. If no polyps are evident by age 50, screening frequency is then the same as for average-risk patients.

Children of parents with FAP should be screened for hepatoblastoma from birth to age 5 yr with annual serum α-fetoprotein levels and possibly liver ultrasound.


  • Colectomy

  • Endoscopic surveillance of remainder of GI tract

  • Perhaps aspirin or coxibs

Colectomy should be done at the time of diagnosis. Total proctocolectomy, either with ileostomy or mucosal proctectomy and ileoanal pouch, eliminates the risk of cancer. If subtotal colectomy (removal of most of the colon, leaving the rectum) with ileorectal anastomosis is done, the rectal remnant must be inspected every 3 to 6 mo; new polyps must be excised or fulgurated. Aspirin or coxibs may inhibit new polyp formation. If new ones appear too rapidly or prolifically to remove, excision of the rectum and permanent ileostomy are needed.

After colectomy, patients should have upper endoscopy every 5 yr. If adenomatous polyps are seen during endoscopy, one approach is follow-up endoscopy and multiple biopsies every 6 mo for a minimum of 2 yr, with endoscopy thereafter at 3-yr intervals. Annual physical examination of the thyroid, and possibly ultrasound, also is recommended.

Key Points

  • FAP is an autosomal dominant disease in which 100 adenomatous polyps carpet the colon and rectum.

  • Nearly all patients develop colon carcinoma by age 40, so total proctocolectomy is usually done at time of diagnosis.

  • Patients have an increased risk of other cancers, particularly of the duodenum, and also the pancreas, thyroid, brain, and liver.

  • After treatment, patients are screened regularly for other cancers and development of polyps in the upper GI tract.

  • Children of parents with FAP should be screened for hepatoblastoma from birth to age 5 yr.

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* This is the Professional Version. *