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Familial Adenomatous Polyposis and Polyposis Syndromes


Gastrointestinal (GI) polyposis is the presence of multiple polypoid lesions in the GI tract ( Fig. 100.1 ). Numerous syndromes have now been classified ( Box 100.1 ).

Fig. 100.1
Familial Polyposis of the Large Intestine.

Box 100.1
Modified from Feldman M, Friedman LS, Brandt LJ, editors: Gastrointestinal and Liver Disease, ed 10, Philadelphia, 2016, Saunders-Elsevier, p 2214.
Gastrointestinal Polyposis Syndromes

Inherited Polyposis Syndromes

  • Adenomatous Polyposis Syndromes

    • Familial adenomatous polyposis (FAP)

    • Variants of FAP

    • Gardner syndrome

    • Turcot syndrome

    • Attenuated adenomatous polyposis coli

  • Hamartomatous Polyposis Syndromes

    • Peutz-Jeghers syndrome

    • Juvenile polyposis

    • Syndromes related to juvenile polyposis

    • Cowden disease

    • Bannayan-Ruvalcaba-Riley syndrome

    • Rare hamartomatous polyposis syndromes

    • Hereditary mixed polyposis syndrome

    • Intestinal ganglioneuromatosis and neurofibromatosis

    • Devon family syndrome

    • Basal cell nevus syndrome

Noninherited Polyposis Syndromes

  • Cronkhite-Canada syndrome

  • Hyperplastic polyposis syndrome

  • Lymphomatous polyposis

  • Nodular lymphoid hyperplasia

Familial adenomatous polyposis (FAP) is the most common and best known of the polyposis syndromes. It has an autosomal dominant inheritance pattern, and it occurs from germline mutations of the APC gene (see “ Additional Resources ” for details on the genetics of these disorders). The prevalence is approximately 3 cases per 100,000 population. There appears to be no geographic or significant ethnic variation.

Recently, a germline MYH mutation has been described with a syndrome similar to that in patients who do not have the APC mutation. These patients were identified in the United Kingdom with a clinical syndrome similar to FAP. The significance of this genetic finding requires further evaluation.

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