Unknown 153

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Unknown 153
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• A 34 yo man is seen in clinic for 5 days of
  BRBPR. He denies fevers, chills, or any other
  constitutional pain.
• No abdominal pain, and he states hes lost
  approximately 5 pounds over past 4 weeks.
• PMH Papillary thyroid carcinoma (age 18)
• FH Father and aunt with colon cancer at ages 32
  and 38.

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• Eventual colonoscopy is likely to show
• Diffuse diverticular disease
• Evidence of inflammatory bowel disease
• More than 100 adenomatous polyps
• Singular fungating pedunculated polyp
• A little colon gnome holding a sign that says
  just kidding.

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C) More than 100 adenomatous polyps

• Familial adenomatous polyposis and its variants
  Turcot's syndrome (FAP associated with brain
  tumors), Gardner's syndrome (FAP with associated
  extraintestinal manifestations) are autosomal
  dominant diseases caused by mutations in the
  adenomatous polyposis coli (APC) gene.

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• FAP occurs in approximately 1/10,000 to 1/30,000
  live births, and accounts for less than 1 percent
  of the total colon cancer risk in the United
  States.
• Polyposis typically develops in the second or
  third decade of life. When fully developed,
  patients with FAP have 100s to 1000s of
  adenomatous colonic polyps.

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• In addition to colorectal adenocarcinoma,
  patients with FAP are at risk for several
  extracolonic malignancies including
• Duodenal ampullary carcinoma
• Follicular or papillary thyroid cancer
• Childhood hepatoblastoma
• Gastric carcinoma
• CNS tumors (mostly medulloblastomas)

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• The diagnosis of FAP is based upon the presence
  of more than 100 adenomatous colorectal polyps.
• A role for genetic testing in FAP is supported by
  consensus statements from a number of
  organizations and by expert opinion

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• The risk of colon adenocarcinoma in classic FAP
  approaches 100 percent by age 45, therefore
  management is centered around prophylactic
  colectomy.

OBJECTIVE Diagnose and manage familial
adenomatous polyposis syndrome