Familial adenomatous polyposis

Familial adenomatous polyposis is a condition in which multiple polyps (up to tens of thousands) develop in the GI tract followed almost inevitably by the onset of colorectal cancer. 

It is inherited in an autosomal dominant fashion but up to 30% of cases may be new mutations with no family history. 

The mutation is in the tumour suppressor gene APC (adenomatous polyposis coli) on chromosome 5.  

Management is with total colectomy and ileorectal anastomosis before cancer develops. 

Patients still tend to have a lower life expectancy than the general population due to their propensity for duodenal and other upper GI cancers. 

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