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2015 | 87 | 2 | 86-90
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Familial Adenomatous Polyposis; 30-Year Observation of a Female Patient – Case Report

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Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome caused by a germline mutation inherited in an autosomal-dominant pattern with a 100% penetrance. Our detailed case report presents a history of a 55-year-old FAP female patient who had been under constant clinical observation for 30 years. The disease was diagnosed at the age of 22. The patient underwent restorative proctocolectomy with ileal pouch-anal anastomosis (PRC-IPAA). During our follow-up extra-colonic manifestations occurred such as a desmoidtumour, fundic gland polyps in the stomach and duodenal polyps also in the periampullary region. Apart from disease-related symptoms the patient manifested other complications such as small bowel adhesive obstruction, benign breast tumours, uterine myomas, cholelithiasisand thyroid nodules. Our analysis of the above case presents advantages of a long-term medical observation of a FAP patient carried out by a specialist surgical medical centre
Physical description
1 - 2 - 2015
19 - 3 - 2014
3 - 7 - 2015
  • Department of General and Colorectal Surgery, Medical University in Poznań
  • Department of General and Colorectal Surgery, Medical University in Poznań
  • Department of General and Colorectal Surgery, Medical University in Poznań
  • Department of General and Colorectal Surgery, Medical University in Poznań
  • Department of General and Colorectal Surgery, Medical University in Poznań
  • 1. Utsunomiya J, Oota M, Matsumoto M et al.: Studies on total colectomy, mucosal proctectomy and ileoanal anastomosis (ileoanostomy). Nihon Geka Gakkai Zasshi 1983 Sep; 84(9): 749-52.
  • 2. Pławski A, Podralska M, Krokowicz P i wsp.: Rodzinna polipowatość jelita grubego. Genetyka kliniczna nowotworów 2010. Print Group, Szczecin 2010; 105-23.
  • 3. Groden J, Thliveris A, Samowitz W et al.: Identificacion and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66 (3): 589-600.
  • 4. Bisgaard ML, Fenger K, Bülow S et al.: Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3 (2): 121-25.
  • 5. Plawski A, Slomski R: The APC gene mutations causing FAP in Polish patients. J Applied Genetics 2008; 49 (4): 407-14.
  • 6. Parks AG, Nicholls RJ et al.: Proctocolectomy without ileostomy for ulcerative colitis. Br Med J 1978; 2: 85-88.
  • 7. Fazio VW, Ziv Y, Church JM et al.: Ileal pouchanal anastomoses complications and function in 1005 patients. Ann Surg 1995 Aug; 222(2): 120-27.
  • 8. Anthony r. MacLean, MD, Zane Cohen et al.: Risk of Small Bowel Obstruction After the Ileal Pouch - Anal Anastomosis. Ann Surg 1994; Vol. 235: 200-06.
  • 9. Arvanitis ML, Jagelman DG, Fazio VW et al.: Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 639-42.
  • 10. Schnitzler M, Cohen Z, Blackstein M et al. Chemotherapy for desmoid tumors in association with familial adenomatous polyposis. Dis Colon Rectum 1997; 40: 798-801.
  • 11. Lotfi AM, Dozois RR , Gordon H et al.: Mesenteric fibromatosis complicating familial adenomatous polyposis: predisposing factors and results of treatment. Int J Colorectal Dis 1989; 4: 30-36.
  • 12. Septer S, Slowik V, Morgan R et al.: Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hereditary Cancer in Clinical Practice 2013; 11: 13.
  • 13. Kadmon M, Tandara A, Herfarth C et al.: Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg polyposis register. Int J Colorectal Dis 2001; 16(2): 63-75.
  • 14. Drews M, Banasiewicz T, Krokowicz P et al.: Familial polyposis coli syndromes. Współcz Onkol 2006; 10: 395-400.
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