Familial adenomatous polyposis overview: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
Familial adenomatous polyposis was first described in 1726 by Menzelio. After 150 years, in 1882, familial nature of the multiple colonic [[Polyp|polyposis]] was reported. [[Heredity|Inheritance]]<nowiki/>predisposition was identified in 1925. [[Gardner's syndrome]] was first described in 1950 by Gardner and Stephens. Bussey described clinical features and natural history of familial adenomatous polyposis in 1975. In 1986, [[Genetics|genetic]] abnormality was discovered by Herrera. In 1991, [[APC (gene)|''APC'' gene]] defect was identified as one of the causes of familial adenomatous polyposis. | |||
==Classification== | ==Classification== | ||
Familial adenomatous polyposis (FAP) may be classified according to the affected [[gene]] into two subtypes including [[FAP (gene)|''FAP'' gene]] and [[MYH|''MYH'' gene]] associated familial adenomatous polyposis. Familial adenomatous polyposis may be classified according to severity into three subtypes of profuse, intermediate, and attenuated. Familial adenomatous polyposis has less severe variants, including [[gardner's syndrome]] and [[turcot syndrome]]. | |||
==Pathophysiology== | ==Pathophysiology== | ||
==Causes== | ==Causes== | ||
Familial adenomatous polyposis may be caused by [[mutation]] in ''[[APC]]'' or ''[[MUTYH]]'' genes. | |||
==Differentiating Hereditary pancreatitis from Other Diseases== | ==Differentiating Hereditary pancreatitis from Other Diseases== | ||
Revision as of 02:00, 1 February 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]
Overview
Historical Perspective
Familial adenomatous polyposis was first described in 1726 by Menzelio. After 150 years, in 1882, familial nature of the multiple colonic polyposis was reported. Inheritancepredisposition was identified in 1925. Gardner's syndrome was first described in 1950 by Gardner and Stephens. Bussey described clinical features and natural history of familial adenomatous polyposis in 1975. In 1986, genetic abnormality was discovered by Herrera. In 1991, APC gene defect was identified as one of the causes of familial adenomatous polyposis.
Classification
Familial adenomatous polyposis (FAP) may be classified according to the affected gene into two subtypes including FAP gene and MYH gene associated familial adenomatous polyposis. Familial adenomatous polyposis may be classified according to severity into three subtypes of profuse, intermediate, and attenuated. Familial adenomatous polyposis has less severe variants, including gardner's syndrome and turcot syndrome.
Pathophysiology
Causes
Familial adenomatous polyposis may be caused by mutation in APC or MUTYH genes.