adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP)

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Introduction

A rare familial disorder characterized by development of large numbers (thousands) of colorectal adenomatous polyps & colorectal carcinoma by age 40.

Epidemiology

Genetics

Clinical manifestations

Laboratory

Diagnostic procedures

Complications

Differential diagnosis

Management

More general terms

More specific terms

Additional terms

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 171, 309
  2. 2.0 2.1 2.2 2.3 2.4 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2021.
  3. Journal Watch 20(15):118, 2000 Steinbach G et al The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 342:1946, 2000 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10874062
  4. 4.0 4.1 Journal Watch 22(9):69, 2002 Giardiello FM et al Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 346:1054, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11932472
    Chau I & Cunningham D, Cyclooxygenase inhibition in cancer--a blind alley or a new therapeutic reality? N Engl J Med 346:1085, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11932478
  5. UpToDate 14.1 http://www.utdol.com
  6. Hegde M, Ferber M, Mao R et al ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med. 2014 Jan;16(1):101-16. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24310308
  7. 7.0 7.1 7.2 Vasen HF, Maslein G, Alonso A et al Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008 May;57(5):704-13. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18194984
  8. 8.0 8.1 Boggs W Sulindac-erlotinib Limits Polyp Burden in Familial Adenomatous Polyposis. Medscape - Feb 13, 2018. https://www.medscape.com/viewarticle/892604
    Samadder NJ, Kuwada SK, Boucher KM et al Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial. JAMA Oncol. 2018 Feb 8. [Epub ahead of print] PMID: https://www.ncbi.nlm.nih.gov/pubmed/29423501
  9. ARUP Consult: Familial Adenomatous Polyposis and MUTYH-Associated Polyposis https://arupconsult.com/ati/familial-adenomatous-polyposis-and-mutyh-associated-polyposis
  10. 10.0 10.1 NEJM Knowledge+

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adenomatous polyposis coli patient information

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