2008, Number 2
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Cir Cir 2008; 76 (2)
Familiar adenomatous polyposis: presentation of two cases in identical male twins
Ramírez-Tapia D, Jalife-Montaño A, Domínguez-Meléndez KE, Vargas-Domínguez A, Ortega-León LH, Rodríguez-Baez A
Language: Spanish
References: 11
Page: 173-176
PDF size: 95.82 Kb.
ABSTRACT
Background: One hundred percent of the cases of familial adenomatous polyposis (FAP) will develop carcinoma; therefore, the necessity of an early diagnosis at an early age with immediate therapy is essential. In the presence of identical twins it is mandatory to undergo full colonic examination as quickly as possible. The study took place at a third-level General Hospital with the objective of explaining in detail the importance of the early diagnosis of FAP.
Clinical cases: We report here of two cases of familial adenomatous polyposis (FAP) in identical male twins who were operated on at different times with different outcomes and prognosis. The first twin was treated 20 years ago at an early age and underwent subtotal colectomy with ileoproctostomy. This patient is currently asymptomatic, with no evidence of malignancy.
The second twin was operated on at the age of 33 years and was already a carrier of a well-differentiated adenocarcinoma of the rectum.
Conclusion: Opportune therapy carried out on the first twin has kept him free of disease in contrast with the delay in treatment of the second twin who developed carcinoma.
REFERENCES
1. Berkhout M, Roelofs HMJ, Friederich P, JHJM van Krieken, Nagengast FM, Peters WHM. Detoxification enzymes in the duodenal mucosa of patients with familial adenomatous polyposis. Br J Surg 2005;92:754-75.
2. Liljegren A, Lindblom A, Rotstein S, Nilsson B, Rubio C, Jaramillo E. Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps. Gut 2003;52:1140-1147.
3. Brosens LAA, Keller JJ, Offerhaus GJA, Goggins M, Giardiello FM. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut 2005;54:1034-1043.
4. Hirschman BA, Pollock BH, Tomlinson GE. The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds. J Pediatr 2005;147:263-266.
5. Tulchinsky H, Keidar A, Strul H, Goldman G, Klausner JM, Rabau M. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy. Arch Surg 2005;140:159-163.
6. Bülow S. Results of national registration of familial adenomatous polyposis. Gut 2003;52:742-746.
7. Bisgaard ML, Ripa R, Knudsen AL, Bülow S. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype. Gut 2004;53:266-270.
8. Aretz S, Stienen D, Uhlhaas S, Pagenstecher C, Mangold E, Caspari R, et al. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 2005;42:185-192.
9. Parc Y, Piquard A, Dozois RR, Parc R, Tiret E. Long-term outcome of familial adenomatous polyposis patients after restorative coloproctectomy. Ann Surg 2004;239:378-382.
10. Aziz O, Athanasiou T, Fazio VW, Nicholls RJ, Darzi AW, Church J, et al. Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg 2006;93:407-417.
11. Bülow S, Björk J, Christensen IJ, Fausa O, Järvinen H, Moesgaard F, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004;53:381-386.