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Familial Adenomatous Polyposis Clinical Presentation

  • Author: Mohammad Wehbi, MD; Chief Editor: BS Anand, MD  more...
 
Updated: Mar 06, 2015
 

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.

One study suggested a potential association between FAP and type 2 diabetes, but further studies are needed to confirm this association.[9]

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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. These are discrete flat pigmented lesions of the retina. These 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, including the following:

  • 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.[10]

Fundic gland polyps (FGP) are found in most patients, half of whom will also have dysplastic polyps.[11] 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.[12]

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 Associate Professor of Medicine, Associate Program Director, Department of Gastroenterology, Emory University School of Medicine; Section Chief of Gastroenterology, Atlanta Veterans Affairs Medical Center

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

Disclosure: Nothing to disclose.

Coauthor(s)

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, American Gastroenterological Association

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, Association of American Physicians, American Gastroenterological Association, American Society for Clinical Investigation

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, 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.

Sunil Dacha, MBBS, MD House Staff, Division of Digestive Disease, Emory University School of Medicine

Sunil Dacha, MBBS, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

BS Anand, MD Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor College of Medicine

BS Anand, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Additional Contributors

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, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Acknowledgements

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.

Nicole M Griglione, MD Fellow in Gastroenterology, 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.

References
  1. Schulmann K, Pox C, Tannapfel A, Schmiegel W. The patient with multiple intestinal polyps. Best Practice & Research Clinical Gastroenterology. June 2007. 21(3):409-426. [Full Text].

  2. Dekker E, Boparai KS, Poley JW, et al. High resolution endoscopy and the additional value of chromoendoscopy in the evaluation of duodenal adenomatosis in patients with familial adenomatous polyposis. Endoscopy. 2009 Aug. 41(8):666-9. [Medline].

  3. Zhang J, Ahmad S, Mao Y. BubR1 and APC/EB1 cooperate to maintain metaphase chromosome alignment. J Cell Biol. 2007 Aug 27. 178(5):773-84. [Medline]. [Full Text].

  4. Newton KF, Mallinson EK, Bowen J, et al. Genotype-phenotype correlation in colorectal polyposis. Clin Genet. 2012 Jun. 81(6):521-31. [Medline].

  5. Nieuwenhuis MH, De Vos Tot Nederveen Cappel W, Botma A, et al. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008 Feb. 6(2):215-9. [Medline].

  6. Will OC, Hansmann A, Phillips RK, et al. Adrenal incidentaloma in familial adenomatous polyposis: a long-term follow-up study and schema for management. Dis Colon Rectum. 2009 Sep. 52(9):1637-44. [Medline].

  7. Ponti G, Losi L, Pellacani G, et al. Wnt pathway, angiogenetic and hormonal markers in sporadic and familial adenomatous polyposis-associated juvenile nasopharyngeal angiofibromas (JNA). Applied Immunohistochemistry & Molecular Morphology. January 25, 2008. 6(2):215-9. [Full Text].

  8. Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM. Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008 Feb. 6(2):180-5. [Medline].

  9. Tajika M, Nakamura T, Nakahara O, Kawai H, Komori K, Hirai T. Prevalence of adenomas and carcinomas in the ileal pouch after proctocolectomy in patients with familial adenomatous polyposis. J Gastrointest Surg. 2009 Jul. 13(7):1266-73. [Medline].

  10. Wachsmannova-Matelova L, Stevurkova V, Adamcikova Z, Holec V, Zajac V. Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309. Neoplasma. 2009. 56(6):486-9. [Medline].

  11. Duncan RE, Gillam L, Savulescu J, Williamson R, Rogers JG, Delatycki MB. The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis. Fam Cancer. 2010 Mar. 9(1):27-35. [Medline].

  12. American Gastroenterological Association. American Gastroenterological Association medical position statement: hereditary colorectal cancer and genetic testing. Gastroenterology. 2001 Jul. 121(1):195-7. [Medline].

  13. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes. Am J Gastroenterol. 2015 Feb. 110(2):223-62. [Medline].

  14. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001 Jul. 121(1):198-213. [Medline].

  15. Rex DK, Johnson DA, Anderson JC, Schoenfeld PS, Burke CA, Inadomi JM. American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol. 2009 Mar. 104(3):739-50. [Medline].

  16. Burt RW, Barthel JS, Dunn KB, et al. NCCN clinical practice guidelines in oncology. Colorectal cancer screening. J Natl Compr Canc Netw. 2010 Jan. 8(1):8-61. [Medline].

  17. Lynch PM. Jurisprudential considerations in the evaluation and screening of high-risk patients. Rozen P, Winawer SJ. In Secondary Prevention of Colorectal Cancer. Karger: Basel; 1986. 55-63.

  18. McEwen JE, McCarty K, Reilly PR. A survey of medical directors of life insurance companies concerning use of genetic information. Am J Hum Genet. 1993 Jul. 53(1):33-45. [Medline].

  19. Friederich P, van Heumen BW, Nagtegaal ID, et al. Increased epithelial cell proliferation in the ileal pouch mucosa of patients with familial adenomatous polyposis. Virchows Arch. 2007 Sep. 451(3):659-67. [Medline]. [Full Text].

  20. Durno CA, Wong J, Berk T, Alingary N, Cohen Z, Esplen MJ. Quality of life and functional outcome for individuals who underwent very early colectomy for familial adenomatous polyposis. Dis Colon Rectum. 2012 Apr. 55(4):436-43. [Medline].

  21. Rodriguez-Bigas MA, Vasen HF, O'Malley L, Rosenblatt MJ, Farrell C, Weber TK. Health, life, and disability insurance and hereditary nonpolyposis colorectal cancer. Am J Hum Genet. 1998 Mar. 62(3):736-7. [Medline].

  22. Iaquinto G, Fornasarig M, Quaia M, et al. Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc. 2008 Jan. 67(1):61-7. [Medline].

  23. Johnson MD, Mackey R, Brown N, Church J, Burke C, Walsh RM. Outcome based on management for duodenal adenomas: sporadic versus familial disease. J Gastrointest Surg. 2010 Feb. 14(2):229-35. [Medline].

  24. Ishikawa H, Wakabayashi K, Suzuki S, et al. Preventive effects of low-dose aspirin on colorectal adenoma growth in patients with familial adenomatous polyposis: double-blind, randomized clinical trial. Canc Med. 2012. 2:50-56.

  25. Jacoby RF, Cole CE, Hawk ET, Lubet RA. Ursodeoxycholate/Sulindac combination treatment effectively prevents intestinal adenomas in a mouse model of polyposis. Gastroenterology. 2004 Sep. 127(3):838-44. [Medline].

  26. Parc Y, Desaint B, Flejou JF, Lefevre JH, Serfaty L, Vienne A. The effect of ursodesoxycholic acid on duodenal adenomas in familial adenomatous polyposis: a prospective randomized placebo-control trial. Colorectal Dis. 2012 Jul. 14(7):854-60. [Medline].

  27. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009. 4:22. [Medline].

  28. Bresalier RS. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 2006. 2759-2810.

  29. Nieuwenhuis MH, Douma KF, Bleiker EM, Aaronson NK, Clevers H, Vasen HF. Clinical evidence for an association between familial adenomatous polyposis and type II diabetes. Int J Cancer. 2012 Sep 15. 131(6):1488-9. [Medline].

  30. Tonelli F, Ficari F, Bargellini T, Valanzano R. Ileal pouch adenomas and carcinomas after restorative proctocolectomy for familial adenomatous polyposis. Dis Colon Rectum. 2012 Mar. 55(3):322-9. [Medline].

  31. Brosens LA, Keller JJ, Offerhaus GJ, Goggins M, Giardiello FM. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005 Jul. 54(7):1034-43. [Medline]. [Full Text].

  32. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005 May. 128(6):1696-716. [Medline].

  33. Doxey BW, Kuwada SK, Burt RW. Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing. Clin Gastroenterol Hepatol. 2005 Jul. 3(7):633-41. [Medline].

  34. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006 Feb. 101(2):385-98. [Medline].

 
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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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