Gardner Syndrome: Causes, Risk Factors, Symptoms, Diagnosis, Treatment, Prognosis and Prevention

It is a rare genetic disorder. It is usually the cause of what starts out as benign or non-cancerous growths.

It is classified as a subtype of familial adenomatous polyposis , which over time causes colon cancer.

Gardner syndrome can lead to growths in various areas of the body. Tumors are most often found in the colon, sometimes in large numbers, and tend to increase with age.

In addition to polyps in the colon, growths can develop that include fibroids, desmoid tumors, and sebaceous cysts, which are fluid-filled growths under the skin. Eye injuries can also occur on the retina in someone who has Gardner syndrome.

What Causes Gardner Syndrome?

The syndrome is a genetic condition, which means that it is inherited. The adenomatous polyposis coli (APC) gene mediates the production of the APC protein, which regulates cell growth by preventing cells from dividing too quickly or in a disorderly manner.

People with Gardner 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 cells found in the intestinal lining combine and growths are formed, causing that by the time the person is around 30 years of age, they generally have multiple adenomatous polyps in the colon.

The gene can be passed to the fetus from both the mother and the father. If the mother or father has Gardner syndrome and only one copy of the gene has been affected, there is a fifty percent chance that the affected version of this gene will be passed on to the fetus.

Also, most people who have the APC gene mutation develop colon cancer by the age of 40 without surgical treatment.

People with this APC gene mutation begin to develop these polyps during puberty, and the average age of diagnosis for this medical condition is around 25 years of age.

Who is at risk?

The main risk factor for developing Gardner syndrome is having at least one parent with the disease. A spontaneous mutation in the APC gene is a much less common occurrence.

Gardner syndrome symptoms

Common symptoms of this condition include:

  • Growths in the colon.
  • Development of additional teeth.
  • Bone tumors in the skull and other bones.
  • Cysts under the skin
  • Skin tumors
  • Pain in your abdominal area.
  • Blood on the stool.
  • Anemia.
  • Have a change in your bowel habits such as diarrhea, constipation, or stools that appear abnormal.
  • Weightloss.

The main symptom of Gardner syndrome is having 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 in the colon, additional teeth can develop, along with bone tumors in the skull.

Another common symptom of Gardner syndrome is cysts, which can form under the skin in various parts of the body.

Fibroids and epithelial cysts are common. People with the syndrome are also at a much higher risk of colon cancer.

How is it diagnosed?

Your doctor may use a blood test to detect Gardner syndrome, or if there are multiple polyps in the colon during a lower GI endoscopy, as well as the presence of other associated symptoms. This blood test reveals if there is an APC gene mutation.

Gardner syndrome treatment

Because people with Gardner syndrome are at an increased risk of developing colon cancer, treatment is generally aimed at preventing this.

Medications such as an NSAID (sulindac) or a COX2 inhibitor (celecoxib) can be used to help limit the growth of colon polyps.

Treatment also involves close monitoring of the polyps with a lower GI endoscopy to make sure they do not become malignant (cancerous). Once 20 or more polyps and / or multiple higher risk polyps are found, it is recommended to remove the colon to prevent colon cancer.

If there are dental abnormalities, 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 deal with related physical and emotional problems.

If this medical disorder is not treated, it can lead to a significantly increased risk of developing cancer, such as stomach cancer, colorectal cancer, and other cancers.

Many times your doctor will send you to a surgeon who will remove a portion of your colon. Your doctor will direct you to take non-steroidal anti-inflammatory medications, either over the counter or by prescription for pain.

Forecast

The outlook for people with Gardner syndrome varies depending on the severity of the symptoms. People who have an APC gene mutation such as Gardner syndrome have an increasing 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 39 (on average).

Prevention

Since Gardner syndrome is inherited, there is no way to prevent it. A doctor can perform genetic tests, which can determine if a person carries the genetic mutation.