• Familial adenomatous polyposis (FAP) (adenomatous polyposis coli) is a rare but important disease because colorectal cancer develops before age 40 in nearly all untreated patients
• FAP: Autosomal dominant
• APC gene localized to chromosome 5q21
• Thousands of polyps (occasionally fewer) of varying size and configuration are present in the colon and rectum
• Extracolonic manifestations are associated with FAP:
-Small bowel adenoma
• Gardner syndrome: Variant of FAP with polyposis, desmoid tumors, osteomas of mandible or skull, and sebaceous cysts
• Turcot syndrome: Variant of FAP with polyposis and a medulloblastoma or glioma
• Congenital hypertrophy of retinal pigment epithelium (always bilateral, more than 4 lesions on each side) predicts FAP with 97% sensitivity
• Polyps begin to appear at puberty
• Cancer develops in these patients at a mean age of 35 years
• Autosomal dominant pattern of inheritance
• Colorectal cancer develops before age 40 years
• In a family with FAP, each first-degree relative of an affected patient has a 50% likelihood of inheriting the mutated gene
• By age 16, about 50% of affected patients have polyps
• History and physical exam
• Flexible sigmoidoscopy/colonoscopy from puberty until age 40 or 50 to be certain the family members do not have polyposis
• Upper endoscopy for gastroduodenal lesions
• FAP: 100% penetrance develop colorectal carcinoma
• Abdominal colectomy ("subtotal colectomy") with ileorectal anastomosis: Leaves risk of rectal carcinoma
• Total colectomy and the ileoanal pouch procedure is preferred for most patients, especially if there are numerous adenomas in the rectum
• Recurrence, development of malignancy in unresected tissue (rectal)
• Extracolonic manifestations
• Increased risk of visceral malignancy
• Development of desmoid tumors in mesentery or abdominal wall
• If the rectal mucosa is excised completely, the risk of subsequent rectal neoplasia is essentially nil
• Desmoid tumors grow slowly and capriciously, but they prove ...
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