Familial Adenomatous Polyposis Workup

  • Author: Mohammad Wehbi, MD; Chief Editor: Julian Katz, MD   more...
 
Updated: Sep 1, 2011
 

Laboratory Studies

  • CBC count
  • Alpha-fetoprotein (AFP) blood test - For children with FAP until age 5 years as part of a screening program for hepatoblastoma
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Imaging Studies

  • Flexible sigmoidoscopy: Visualization of more than 100 polyps usually establishes the diagnosis because of the diffuse nature of the polyposis.
  • Colonoscopy is usually reserved for patients thought to have AAPC because of the higher incidence of right-sided polyps (proximal colonic involvement).
  • Front- and side-viewing esophagogastroduodenoscopy is recommended if the sigmoidoscopy or the colonoscopy establishes the diagnosis of FAP. It is an essential component of the surveillance program in FAP, especially in that the second most common cancer involves the duodenum. This test helps to evaluate the presence of gastric, duodenal, and periampullary adenomas. It is recommended every 1-3 years. Benign gastric polyps are part of the spectrum of FAP. They are usually confined to the fundus.
  • Dental and skull x-ray films are recommended in patients thought to have a Gardner variant of FAP. The films help to detect osteomas and dental abnormalities.
  • Barium studies may be performed to visualize intestinal polyposis.
  • Periodic ultrasounds or abdominal computed tomography scans are used to check for intra-abdominal desmoid tumors and pancreatic cancer.
  • Periodic ultrasound of the thyroid: This imaging study is considered because of the increased risk of thyroid cancer. It can supplement the recommended annual physical examination of the thyroid.
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Other Tests

  • Three genetic tests are available.[10] Patients should receive genetic counseling from a trained individual prior to the performance of these tests.
  • In vitro protein synthesis assay
    • This is the genetic test of choice for the proband patient (patient with FAP). This test is commercially available.
    • DNA from peripheral blood is analyzed for a truncated APC gene product.
    • Because of the size of the APC protein, it is analyzed in 5 overlapping segments.
    • If the proband has a mutation, other family members can be tested (after genetic counseling) for the identical mutation. The test generally has 100% accuracy in detecting other gene carriers in the family.
  • APC gene sequencing is the most accurate test. However, it is hard logistically and, hence, is only reserved for research purposes.
  • Linkage testing
    • DNA markers near or in the APC locus are used to identify mutant gene carriers.
    • This test requires 2 affected family members to achieve an appropriate linkage relationship resulting in 90% accuracy. As a result, this is not appropriate logistically.
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Procedures

  • Representative polyps should be removed by endoscopic polypectomy to confirm the diagnosis by histologic examination.[2, 11]
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Histologic Findings

Characteristic pathology of a polyp from patients with FAP is a tubular adenoma.

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Contributor Information and Disclosures
Author

Mohammad Wehbi, MD  Assistant Professor of Medicine, Associate Program Director, Department of Gastroenterology, Atlanta Veterans Affairs Medical Center, Emory University School of Medicine

Mohammad Wehbi, MD is a member of the following medical societies: American College of Physicians, American Gastroenterological Association, and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Nicole M Griglione, MD  Staff Physician, Department of Medicine, Emory University School of Medicine

Nicole M Griglione, MD is a member of the following medical societies: American Medical Association and Illinois State Medical Society

Disclosure: Nothing to disclose.

Vincent W Yang, MD, PhD  R Bruce Logue Professor, Director, Division of Digestive Diseases, Department of Medicine, Professor of Hematology and Oncology, Winship Cancer Institute, Emory University School of Medicine

Vincent W Yang, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Gastroenterological Association, American Society for Clinical Investigation, and Association of American Physicians

Disclosure: Nothing to disclose.

Kamil Obideen, MD  Assistant Professor of Medicine, Division of Digestive Diseases, Emory University School of Medicine; Consulting Staff, Division of Gastrointestinal Endoscopy, Atlanta Veterans Affairs Medical Center

Kamil Obideen, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, and American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Jae W Nam, MD  Fellow in Gastroenterology, Division of Digestive Diseases, Department of Medicine, Emory University School of Medicine; Consulting Staff, Department of Critical Care, Decatur Hospital

Jae W Nam, MD is a member of the following medical societies: American College of Gastroenterology

Disclosure: Nothing to disclose.

John M Carethers, MD  Professor of Medicine, Chief, Division of Gastroenterology, Department of Medicine, University of California, San Diego, School of Medicine

John M Carethers, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for Cancer Research, American College of Gastroenterology, American College of Physicians, and American Gastroenterological Association

Disclosure: Nothing to disclose.

Specialty Editor Board

John Gunn Lee, MD  Director of Pancreaticobiliary Service, Associate Professor, Department of Internal Medicine, Division of Gastroenterology, University of California at Irvine School of Medicine

John Gunn Lee, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, and American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Simmy Bank, MD  Chair, Professor, Department of Internal Medicine, Division of Gastroenterology, Long Island Jewish Hospital, Albert Einstein College of Medicine

Disclosure: Nothing to disclose.

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD  Clinical Professor of Medicine, Drexel University College of Medicine

Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law, Medicine & Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

References

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Colectomy specimen obtained from a patient with familial adenomatous polyposis. Note the presence of numerous synchronous adenomatous polyps lining the luminal surface.
 
 
 
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