What is Gardner’s syndrome?
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
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.
What causes 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.
Who is at risk for Gardner's syndrome?
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.
Symptoms of Gardner's syndrome
Common symptoms of this condition include:
- growths in the colon
- development of extra teeth
- bony tumors on the skull and other bones
- cysts under the skin
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.
How is Gardner's syndrome diagnosed?
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
Gardner’s syndrome treatment
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.