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Gardner's syndrome is a rare genetic disorder. It usually causes what start out to be benign or noncancerous growths. It’s classified as a subtype of familial adenomatous polyposis, which over time causes colon cancer.
Gardner’s syndrome can lead to growths on various areas of the body. Tumors are most commonly found in the colon, sometimes in large numbers. They tend to increase with age. In addition to polyps on the colon, growths can develop, including fibromas, desmoid tumors, and sebaceous cysts, which are fluid-filled growths under the skin. Eye lesions can also occur on the retina in someone who has Gardner’s syndrome.
The syndrome is a genetic condition, which means it’s inherited. The adenomatous polyposis coli (APC) gene mediates the production of APC protein. The APC protein regulates cell growth by preventing cells from dividing too fast or in a disorderly way. People with Gardner's syndrome have a defect in the APC gene. This leads to abnormal tissue growth. What causes the mutation of this gene has not been determined.
The main risk factor for developing Gardner’s syndrome is having at least one parent with the condition. A spontaneous mutation in the APC gene is a much less common occurrence.
Common symptoms of this condition include:
The main symptom of Gardner’s syndrome is multiple growths in the colon. The growths are also known as polyps. Although the number of growths varies, they can be in the hundreds.
In addition to growths on the colon, extra teeth can develop, along with bony tumors on the skull. Another common symptom of Gardner’s syndrome is cysts, which can form under the skin on various parts of the body. Fibromas and epithelial cysts are common. People with the syndrome also have a much higher risk of colon cancer.
Your doctor may use a blood test to check for Gardner’s syndrome if multiple colon polyps are detected during lower GI tract endoscopy, or if there are other symptoms. This blood test reveals if there is an APC gene mutation.
Because people with Gardner’s syndrome have a higher risk of developing colon cancer, treatment is usually aimed at preventing this.
Medications such as an NSAID (sulindac) or a COX2 inhibitor (celecoxib) may be used to help limit the growth of colon polyps.
Treatment also involves close monitoring of the polyps with lower GI tract endoscopy to make sure they do not become malignant (cancerous). Once 20 or more polyps and/or multiple higher risk polyps are found, removal of the colon is recommended in order to prevent colon cancer.
If dental abnormalities are present, treatment may be recommended to correct problems.
As with all medical conditions, a healthy lifestyle with proper nutrition, exercise, and stress-reduction activities can help people cope with related physical and emotional issues.
The outlook for people with Gardner’s syndrome varies, depending on the severity of symptoms. People who have an APC gene mutation such as that in Gardner’s syndrome have an increasingly high chance of developing colon cancer as they age. Without surgical treatment, almost all people with the APC gene mutation will develop colon cancer by 39 years of age (on average).
Since Gardner’s syndrome is inherited, there is no way to prevent it. A doctor may conduct genetic testing, which can determine if a person carries the gene mutation.
Written by: MaryAnn DePietro
Medically reviewed on: Dec 05, 2016: Stacy R. Sampson, DO
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