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Familial Adenomatous Polyposis

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  • Familial adenomatous polyposis

    Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousand s of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years.

  • Familial adenomatous polyposis

    The symptoms of Familial adenomatous polyposis are as follows:

    • Duodenal polyps

    • Periampullary polyps

    • Desmoids

    • Other cancers

    • Noncancerous bone tumors 

  • Familial adenomatous polyposis

    Dental abnormalities. Making the diagnosis of FAP before the development of colon cancer is important not just for the individual, but also for the sake of other family members who may be affected.

    Two diagnostic methods exist:

    a)Colonoscopy

    b)Genetic testing 

  • Familial adenomatous polyposis

    Medical care is mainly based on endoscopic surveillance to detect the onset of polyposis. Consequently, surgery would prevent the development of colon cancer. However, in view of the increased risk for the development of other cancers, continued medical follow-up is required with a number of surveillance tests, as colectomy would only address the potential risk of colon cancer.

  • Familial adenomatous polyposis

    Approximately 1 in 10,000 babies born live will have FAP resulting from a germline adenomatous polyposis coli (APC) mutation. Because this is an autosomal-dominant condition, males and females are equally affected by this disease. There do not appear to be significant racial, ethnic, or geographical differences in the incidence of FAP, nor do environmental factors appear to affect the disease incidence. Up to 30% of FAP probands have no family history of polyposis and presumably these people have spontaneous mutations in APC. Only 1% of all colorectal cancer is secondary to FAP.

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