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Familial Polyposis and Gardner Syndrome


KEY FACTS

Terminology

  • Autosomal dominant genetic disorder characterized by formation of innumerable colonic adenomatous polyps at young age and increased risk for colonic and extracolonic tumors

Imaging

  • Imaging tests : Double-contrast barium studies of colon and upper GI tract (may be redundant with endoscopy)

    • CT or MR (for abdominal tumors)

    • Innumerable colonic filling defects or ring shadows ± extraintestinal lesions

  • Adenomatous (± malignant) polyps in

    • Colon > stomach > duodenum > small bowel

    • Small (80% < 5 mm) and usually sessile

      • –

        Polyps may carpet colon, stomach, duodenum

  • Familial adenomatous polyposis (FAP) coli and Gardner syndrome are expressions of same genetic defect

  • Gardner syndrome = FAP + soft tissue tumors, bony osteomas, dental defects, and periampullary tumor

    • Soft tissue tumors: Desmoid, mesenteric fibromatosis, lipoma

Pathology

  • Autosomal dominant trait (2/3 of cases) with high penetrance

  • Spontaneous mutations (1/3 of cases)

Clinical Issues

  • Mean age at diagnosis = 16 years; 95% have polyps by 35 years

  • Colon carcinoma by 34-43 years of age

Diagnostic Checklist

  • Lifetime surveillance for tumors throughout body

Graphic shows innumerable small polyps and multifocal carcinomas
representative of the colonic lesion types seen in patients with familial polyposis coli.

Spot film from an air-contrast barium enema demonstrates multiple small radiolucent filling defects
, which represent sessile adenomatous polyps along the sigmoid colonic mucosa.

Upper GI series spot film shows the stomach carpeted with small polyps, all fairly small and uniform in size. While these resemble hyperplastic polyps radiographically, this patient has familial polyposis with adenomatous polyps that have potential for malignant degeneration.

Spot film from an upper GI series in a patient with familial polyposis and Gardner syndrome shows several adenomatous polyps
in the duodenum.

TERMINOLOGY

Abbreviations

  • Familial adenomatous polyposis (FAP) syndrome

  • Gardner syndrome may have same genetic mutation

    • Distinction from FAP is largely semantic

Definitions

  • Autosomal dominant genetic disorder characterized by formation of innumerable colonic adenomatous polyps at young age and by increased risk for colonic and extracolonic tumors

IMAGING

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