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World Journal of Surgery

, Volume 15, Issue 1, pp 41–46 | Cite as

Diagnosis of familial adenomatous polyposis

  • Steffen Bülow
Progress Symposium—Colorectal Polyps

Abstract

Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestations are seen. Proctosigmoidoscopy is used for screening; when adenomas are found, the diagnostic evaluation includes colonoscopy and gastroduodenoscopy. Screening of first degree relatives should start at the age of 10 years, using proctosigmoidoscopy at regular intervals. The recent detection of a specific FAP gene at chromosome 5 and of congenital retinal pigmentations will allow an early preclinical diagnosis in the future. A centralized registration of FAP has resulted in an improved prognosis, and the establishment of international groups will contribute to increased research of this disease.

Keywords

Carcinoma Adenocarcinoma Adenoma Thoracic Surgery General Surgery 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Résumé

Dans la polypose adénomateuse familiale (PAF), on peut voir se développer plusieurs milliers d'adénomes colorectaux et un authentique adénocarcinome survient dans tous les cas non traités. On peut également observer de nombreuses autres manifestations extracoliques. La proctosigmoÏdoscopie est l'examen de choix pour le dépistage; lorsque l'on voit des adénomes, il faut compléter les investigations par une coloscopie totale et une duodénogastroscopie. Il faut également proposer l'examen de tous les parents au premier degré, dès l'âge de 10 ans, par une proctosigmoÏdoscopie à intervalles réguliers. La détection récente d'un gène PAF localisé au chromosome 5 et l'existence de pigmentations rétiniennes congénitales devraient permettre à l'avenir une détection préclinique. Un registre centralisé de PAF a amélioré le prognostic et la constitution de groupes de travail internationaux devrait contribuer à augmenter nos connaissances sur cette maladie.

Resumen

La poliposis adenomatosa familiar incluye el desarrollo temprano de hasta miles de adenomas colorrectales y de carcinoma en la totalidad de los casos no tratados. Los pacientes presentan, además, una variedad de manifestaciones extracolónicas. Para el tamizaje se utiliza la proctosigmoidoscopia; cuando se detectan adenomas, la valoración diagnóstica debe incluir colonoscopia y gastroduodenoscopia. El tamizaje de los familiares de primer grado de consanguinidad debe comenzar a la edad de 10 años, mediante la realización de proctosigmoidoscopia a intervalos regulares. La reciente detección de un gen específico de la poliposis adenomatosa familiar en el cromosoma 5 y de pigmentación retiniana congénita permitirá establecer un diagnóstico preclínico precoz en el futuro. El registro centralizado de la poliposis adenomatosa familiar ha resultado en mejor diagnóstico, y el establecimiento de grupos internacionales habrá de contribuir al incremento de la investigación sobre esta enfermedad.

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Copyright information

© Société Internationale de Chirurgie 1991

Authors and Affiliations

  • Steffen Bülow
    • 1
  1. 1.Danish Polyposis Registry, Department of Surgical GastroenterologyHvidovre University HospitalHvidovreDenmark

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