Adenomatous Polyposis Coli

Adenomatous Polyposis Coli is otherwise known as Gardner Syndrome and is a variant of the disease known as familial adenomatous polyposis (or FAP), caused by a gene mutation. The condition is characterized by extra bowel tumors, abnormality of the retina of the eye and polyps of the colon.

FAP is when thousands of polyps in the colon and rectum develop leading to colorectal cancer. These may start to form as easily as puberty, but colon cancer will occur around 10-15 years later. These can develop at any age from late childhood to the sixties, but the most common age of diagnosis is 25.

As mentioned, the disease is due to a gene. Anyone who has this mutated gene is 50% likely to pass it on to each of their children, and those who do receive this gene nearly always manifest the disease. However, the way the disease is expressed changes between each person. The mutated gene is known as APC (adenomatous polyposis coli). There are many different mutations of the APC gene.

Gardner syndrome is diagnosed using an oral examination. Those with the syndrome will have a ‘cotton-wool’ like appearance of the jaws and other visible features.