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  • Title: The clinical [corrected] background of familial adenomatous polyposis. History, epidemiology, diagnosis and treatment.
    Author: Kartheuser A, Detry R, West S, Coppens JP, Gribomont AC, Hoang P, Melange M, Vanheuverzwyn R, Verellen-Dumoulin C, Burn J.
    Journal: Acta Gastroenterol Belg; 1995; 58(2):252-66. PubMed ID: 7571988.
    Abstract:
    Familial adenomatous polyposis (FAP) is a dominantly inherited genetic disorder predisposing to colon cancer through the early development of multiple adenomatous polyps in the large bowel. FAP is not restricted to the colon and rectum, but is a more complex disease which can potentially affect almost any organ not only with benign tumours but also with life threatening carcinomas. Desmoid tumours and gastroduodenal polyps and cancer are the two more worrying extracolonic manifestations of FAP. Recent advances in FAP knowledge, such as the report of congenital hypertrophy of the retinal pigment epithelium (CHRPE) or the APC gene identification, are very useful for screening and long-term follow-up of the patients through regional or national registries. Nutritional and pharmacological intervention trials are under way to assess potential new medical treatments of FAP. Surgery is still the only effective treatment for colorectal cancer prevention in FAP. The choice of a surgical procedure is controversial, but the introduction of total proctocolectomy with ileal pouch-anal anastomosis can be considered as a major advance in surgical treatment of FAP during the last decade.
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