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Genetic and Rare Diseases Information Center (GARD)

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Familial adenomatous polyposis


Other Names for this Disease

  • Adenomatous polyposis coli
  • Adenomatous polyposis of the colon
  • Familial adenomatous polyposis of the colon
  • Familial intestinal polyposis
  • Familial multiple polyposis
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Overview

Familial adenomatous polyposis (FAP) is an inherited condition that causes cancer of the large intestine (colon) and rectum. People with the classic type of FAP usually develop hundreds to thousands of noncancerous (benign) polyps (growths) in the colon as early as their teenage years. Overtime, these polyps can become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years.[1] Other signs and symptoms may include dental abnormalities; desmoid tumors; and benign and malignant tumors of the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues.[2] Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years.[1] FAP is caused by changes (mutations) in the APC gene and is inherited in an autosomal dominant manner. People with FAP usually undergo regular screening colonoscopies until they develop 20 to 30 polyps and then a colectomy (removal of colon) is generally recommended.[2]
Last updated: 11/26/2014

References

  1. Familial Adenomatous Polyposis. Genetic Home Reference. October 2013; http://www.ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis.
  2. Kory W Jasperson, MS and Randall W Burt, MD. APC-Associated Polyposis Conditions. GeneReviews. March 27, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1345/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial adenomatous polyposis. This website is maintained by the National Library of Medicine.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Familial adenomatous polyposis.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial adenomatous polyposis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adenomatous polyposis coli
  • Adenomatous polyposis of the colon
  • Familial adenomatous polyposis of the colon
  • Familial intestinal polyposis
  • Familial multiple polyposis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.