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Case Reports
. 2014 May 28;7(2):349-56.
doi: 10.1159/000363221. eCollection 2014 May.

Familial adenomatous polyposis in three generations of a single family: a case study

Jure Murgic  1 , Iva Kirac  2 , Zeljko Soldic  1 , Davor Tomas  3 , Mario Zovak  4 , Ante Bolanca  1 , Andrzej Plawski  5 , Y Banasiewicz  6 , Zvonko Kusic  1
Affiliations
Case Reports

Familial adenomatous polyposis in three generations of a single family: a case study

Jure Murgic et al. Case Rep Oncol. .

Abstract

Background: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited syndrome characterized by the development of numerous polyps in the colon and rectum. If left untreated, the affected patients inevitably develop colon cancer by the age of 40 years. A resection of the colon (colectomy) or of the colon and rectum (proctocolectomy) is needed to minimize the risk of cancer.

Case presentation: We report a case of FAP through three generations of a single family, in which the grandmother and granddaughter underwent total colectomy with ileoanal anastomosis and did not develop colon cancer, while the son underwent subtotal colectomy with ileorectal anastomosis and developed recurrent rectal cancer. Data regarding timely surgery, surveillance, and chemoprevention are discussed.

Conclusion: The FAP phenotype determines the type of treatment. In severe polyposis, proctocolectomy with ileoanal anastomosis seems to be the optimal method for minimizing the risk of cancer development. This case report advocates complete rectal removal, especially in cases of poor patient compliance with colonoscopic surveillance.

Keywords: 2805C>G substitution; Colectomy; Familial adenomatous polyposis; Rectal cancer.

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Figures

Fig. 1
Fig. 1
Countless polyps carpeting the mucosal surface of the resected rectum.
Fig. 2
Fig. 2
a Villous adenoma with high-grade epithelial dysplasia (HE. ×40). b Adenocarcinoma infiltrating the submucosa (HE. ×40).
Fig. 3
Fig. 3
Family pedigree chart.
See this image and copyright information in PMC

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