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Chapter: Medicine and surgery: Gastrointestinal system

Familial adenomatous polyposis - Gastrointestinal oncology

Familial adenomatous polyposis is a rare genetic condition in which patients develop multiple polyps. - Definition, Incidence, Aetiology, Pathophysiology, Clinical features, Complications, Investigations, Management, Prognosis.

Familial adenomatous polyposis

 

Definition

 

Familial adenomatous polyposis is a rare genetic condition in which patients develop multiple polyps.

 

Aetiology/pathophysiology

 

This is an autosomal dominant condition in which there is a defect in the adenomatous polyposis (apc) gene on the long arm of chromosome 5. Multiple polyps develop during childhood throughout the large bowel.

 

Clinical features

 

Patients may be identified through screening of known relatives. The presence of multiple polyps may lead to bleeding, diarrhoea and mucus discharge.

Complications

 

Malignant change is inevitable as each polyp carries a risk of transformation. Adenocarcinoma is unlikely before the age of 20.

 

Investigations

 

Colonoscopy is used to screen relatives above 12 years.

 

Management

 

Definitive treatment involves a total colectomy and ileorectal anastomosis with ileal pouch formation. The rectal stump requires continuing surveillance.

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