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

    • Blood in stool

    • Anaemia

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).