Familial Adenomatous Polyposis Clinical Presentation

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

History

  • Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.
  • Of patients with FAP, 75-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.
  • Nonspecific symptoms, such as unexplained rectal bleeding (hematochezia), diarrhea, or abdominal pain, in young patients may be suggestive of FAP.
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Physical

  • Congenital hypertrophy of the retinal pigment epithelium is highly specific for FAP and is best seen by slit-lamp examination.
    • They are discrete flat pigmented lesions of the retina. They are often multiple (63%) and bilateral (87%). They do not cause any clinical problems.
    • They indicate that a family member has inherited the gene that causes FAP and is at risk. As a result, they precede polyposis and correlate with mutations between exons 9 and 15 of the gene that causes FAP.
  • Some lesions are indicative of a Gardner variant of FAP.
    • Osteomas (painless bony overgrowth) of the skull and the mandible may be present. They usually precede the clinical or radiologic diagnosis of intestinal polyposis.
    • Dental abnormalities, often diagnosed by using x-ray films, may include supernumerary teeth, impacted teeth, dentigerous cysts, and odontomas.
    • In prepubescent patients, epidermoid cysts on the legs, face, scalp, and arms may be present. They are the most common cutaneous manifestation of Gardner syndrome. These cysts are benign and mainly pose a cosmetic concern.
    • Fibromas may be present, located on the scalp, shoulders, arms, and back.
  • Desmoid tumors are discussed in Mortality/Morbidity.
  • Juvenile nasopharyngeal angiofibromas (JNA) are a rare, invasive, destructive tumor of the nasopharynx that can be sporadic or associated with FAP.[7]
  • Fundic gland polyps (FGP) are found in most patients, half of whom will also have dysplastic polyps.[8] Dysplasia is associated with increased severity of antral gastritis and duodenal polyposis. Acid-suppressive therapy appears to be protective against dysplasia. Helicobacter pylori association is rare.
  • A palpable abdominal mass in a young patient is suggestive of FAP.
  • A palpable mass upon rectal examination in a young patient is suggestive of FAP.
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Causes

  • FAP is caused by a germline mutation of the APC tumor suppressor gene, located on band 5q21.
  • Most mutations of the APC gene are nonsense or frameshift mutations, leading to truncation of the APC protein (nonfunctional protein).
  • More virulent forms of FAP are associated with a mutation in exon 15 between codons 1250 and 1464, the middle portion of the gene.[9]
  • In patients with AAPC, mutations of the APC gene occur at the extreme amino terminus of the protein.
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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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  7. Ponti G, Losi L, Pellacani G, Rossi GB, Presutti L, Mattioli F, et al. Wnt pathway, angiogenetic and hormonal markers in sporadic and familial adenomatous polyposis-associated juvenile nasopharyngeal angiofibromas (JNA). Applied Immunohistochemistry & Molecular Morphology [serial online]. January 25, 2008;Available from: Pubmed. Accessed March 15, 2008. Available at http://www.appliedimmunohist.com/.

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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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