Workup
Laboratory Studies
- Testing of peripheral leukocytes to evaluate for the APC gene and its mutation
- Complete blood cell (CBC) count, carcinoembryonic antigen testing, and liver function tests to evaluate for possible metastasis
- Thyroid function tests
Imaging Studies
- Computed tomography (CT) scan of the abdomen and pelvis
- Panoramic dental radiograph, chest radiograph, and skull radiograph to evaluate for osteomas
Other Tests
- Slit-lamp examination and indirect ophthalmoscopy to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE)
Diagnostic Procedures
- Colonoscopy with direct visualization of polyps that carpet the colon - Criterion standard for the diagnosis of familial adenomatous polyposis
- Esophagogastroduodenoscopy (EGD) for evaluation of gastric and duodenal polyps
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References
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Ambroze WL Jr, Dozois RR, Pemberton JH, et al. Familial adenomatous polyposis: results following ileal pouch-anal anastomosis and ileorectostomy. Dis Colon Rectum. Jan 1992;35(1):12-5. [Medline].
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Kartheuser AH, Parc R, Penna CP, et al. Ileal pouch-anal anastomosis as the first choice operation in patients with familial adenomatous polyposis: a ten-year experience. Surgery. Jun 1996;119(6):615-23. [Medline].
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Eccles DM, van der Luijt R, Breukel C, et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet. Dec 1996;59(6):1193-201. [Medline]. [Full Text].
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Filippakis GM, Zografos G, Pararas N, et al. Spontaneous regression of rectal polyps following abdominal colectomy and ileorectal anastomosis for familial adenomatous polyposis, without sulindac treatment: report of four cases. Endoscopy. Jul 2007;39(7):665-8. [Medline].
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Sanabria JR, Croxford R, Berk TC, et al. Familial segregation in the occurrence and severity of periampullary neoplasms in familial adenomatous polyposis. Am J Surg. Jan 1996;171(1):136-40; discussion 140-1. [Medline].
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Further Reading
Keywords
Gardner syndrome, colon cancer, colorectal cancer, rectal cancer, familial adenomatous polyposis, colon polyps, adenomatous, polyposis, desmoid tumor, colon polyps, adenomatous polyposis, epidermoid cyst, Gardner's syndrome, FAP, colorectal carcinoma, APC gene, familial polyposis coli, FPC, hereditary adenomatosis of the colon and rectum, HACR, colon adenoma, rectum adenoma, rectal adenoma, colon tumor, rectum tumor, colon mass, rectum mass, rectal mass, rectal carcinoma, colon carcinoma, rectum carcinoma, intestinal polyposis, desmoid, rectal polyps
Workup: Gardner Syndrome