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Familial adenomatous polyposis

Definition
Risk Factors

Differential diagnosis

Epidemiology
  • incidence of the mutation is between 1 in 10,000 and 1 in 15,000 births
  • By age 35 years, 95% of individuals with FAP have polyps
Aetiology
  • Development of hundreds to thousands of polyps
Clinical features
Pathophysiology
Investigations
Management

a) conservative

b) medical

c) surgical
  • Prophylactic colectomy is indicated if more than a hundred polyps are present, if there are severely dysplastic polyps, or if multiple polyps larger than 1 cm are present
Prognosis
  • Without colectomy, colon cancer is virtually inevitable
  • The mean age of colon cancer in untreated individuals is 39 years (range 34–43 years).
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