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[Familial adenomatous polyposis].

S Bülow1, J O Søndergaard, F Moesgaard

  • 1Kirurgisk gastroenterologisk afdeling, Hvidovre Hospital, København.

Ugeskrift for Laeger
|September 10, 1990
PubMed
Summary

Familial adenomatous polyposis is an inherited condition causing numerous colorectal polyps and cancer. Early diagnosis and prophylactic colectomy improve outcomes for affected individuals and families.

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Area of Science:

  • Genetics and Hereditary Diseases
  • Gastroenterology
  • Oncology

Context:

  • Familial adenomatous polyposis (FAP) is an autosomal dominant disorder.
  • Characterized by the development of thousands of colorectal adenomas.
  • High risk of colorectal adenocarcinoma in untreated individuals.

Purpose:

  • To outline the diagnostic and management strategies for Familial Adenomatous Polyposis.
  • To highlight the importance of early detection and intervention.
  • To discuss the genetic basis and future diagnostic potential.

Summary:

  • FAP presents with extensive colorectal adenomas and potential extracolonic manifestations (e.g., epidermoid cysts, osteomas, desmoids, gastroduodenal polyps).
  • Diagnosis involves proctosigmoidoscopy, colonoscopy, and gastroduodenoscopy.
  • Treatment includes prophylactic colectomy around age 15, often with ileorectal anastomosis or ileoanal reservoir construction.

Impact:

  • Early diagnosis and treatment, facilitated by the Polyposis Register, improve patient prognosis.
  • Genetic testing and retinal pigmentation screening offer potential for future early preclinical diagnosis.
  • Regular screening of first-degree relatives from age ten is crucial for timely intervention.

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