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Gardner's syndrome is a rare genetic disorder. It usually causes benign or non-cancerous growths. It is classified as a subtype of familial adenomatous polyposis, which 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. 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.
The condition is considered rare. It occurs in about one in 8,000 people (American Society of Clinical Oncology).
The syndrome is a genetic condition, which means it is inherited. The adenomatous polyposis coli (APC) gene produces APP protein. APC protein regulates cell growth and prevents cells from dividing too fast. People with Gardner's syndrome have a defect in the APC gene. This affects cell growth, which leads to abnormal tissue growth. What causes the mutation of the gene has not been determined.
The main risk factor for developing Gardner’s syndrome is having at least one parent with the condition.
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 higher risk of developing colon cancer.
Symptoms may suggest Gardner’s syndrome. A doctor may use a blood test to check for the syndrome if multiple colon polyps or other symptoms have been detected. A blood test for Gardner’s syndrome determines 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 a COX2 inhibitor may be used to limit the growth of colon polyps. But the medication is not always successful.
Treatment also involves close monitoring of the polyps to make sure they do not become malignant. In some cases, removal of the colon may be recommended in order to prevent colon cancer from developing.
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 with the syndrome to cope with related physical and emotional issues.
The prognosis for people with Gardner’s syndrome varies, depending on the severity of symptoms. According to Stanford Medicine, people who have an APC gene mutation such as 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 age 40.
Since the condition is inherited, there is no way to prevent it. Genetic testing is possible to determine if a person carries the gene mutation.
Written by: MaryAnn DePietro
Published on: Jan 06, 2014
Medically reviewed on: Dec 05, 2016: Stacy R. Sampson, DO
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