Gardner Syndrome

Overview

What is Gardner syndrome?

Gardner syndrome is a type of familial adenomatous polyposis (FAP) that causes the development of multiple colon polyps (growths) and several types of cancerous or noncancerous tumors. People with the condition have a higher risk of developing other FAP-related cancers, including stomach cancer, pancreatic cancer and liver cancer. Gardner syndrome is a congenital condition, meaning people are born with it.

Who does Gardner syndrome affect?

People with Gardner syndrome have an abnormality in their APC (adenomatous polyposis coli) gene. APC is a tumor suppressor gene that regulates cell growth and prevents cells from dividing and multiplying too quickly. Gardner syndrome is an inherited condition. Most people with Gardner syndrome have at least one parent who also has the condition.

How common is Gardner syndrome?

Gardner syndrome is rare. One out of 1 million people in the United States is diagnosed with the condition.

What is the percentage of people with Gardner syndrome who will develop colon cancer?

People with Gardner syndrome have almost a 100% chance of developing colon cancer at some point in their lifetimes. However, early diagnosis and diligent management can help reduce the risk of cancer.

Symptoms and Causes

What are the symptoms of Gardner syndrome?

The most common symptom of Gardner syndrome is the development of multiple colon polyps. While the number of polyps can vary from person to person, some individuals develop hundreds of them. Other Gardner syndrome symptoms include:

  • Osteomas (noncancerous bone tumors).
  • Noncancerous soft tissue tumors such as desmoid tumors, fibromas, lipomas and epidermoid cysts.
  • Supernumerary (extra) teeth or other dental abnormalities.
  • Epithelial cysts (cysts under the skin).
  • Polyps in the stomach or small intestine.
  • Adrenal gland tumors (adenomas).
  • CHRPE (congenital hypertrophy of retinal pigment epithelium), a pigmented, flat spot affecting the outer layer of the retina.

Gardner syndrome affects different people in different ways. As with most health conditions, symptoms vary for each individual.

What causes Gardner syndrome?

Gardner syndrome is caused by a mutation of the APC gene. However, experts still don’t know what causes the gene mutation to begin with.

Diagnosis and Tests

At what age is Gardner syndrome diagnosed?

Most people with Gardner syndrome begin to develop colon polyps around the age of 16, though the average age of diagnosis is 22, and other tumors can arise at other ages.

How is Gardner syndrome diagnosed?

If you're at risk for Gardner syndrome, or if you develop suspicious symptoms, your healthcare provider may order a blood test. This will help determine if there’s a mutation in your APC gene. Gardner syndrome symptoms are often identified through physical evaluation, imaging of the stomach and intestines, and colonoscopies.

Management and Treatment

How is Gardner syndrome treated?

Management of Gardner syndrome usually involves close monitoring to make sure that your colon polyps don’t become cancerous. Screenings may be performed using colonoscopy, sigmoidoscopy, EGD (esophagogastroduodenoscopy) and physical examinations. Treatments can vary significantly depending on your unique situation, and may include medications, surgical treatments, dental procedures or a combination of methods.

Medications

Specific medications — such as sulindac or celecoxib — may be recommended to help slow the growth of colon polyps.

Surgical treatments

To reduce your risk of developing cancer, your healthcare provider may recommend a colectomy if more than 20 to 30 polyps are discovered. This procedure removes part or all of your colon.

In some cases, a protocolectomy is recommended. Total protocolectomy involves the removal of the large intestine and most of the rectum. The five-year survival rate for people who undergo protocolectomy for Gardner syndrome is almost 100%. This means that nearly all people who have this type of treatment are still alive five years later. Keep in mind that survival rates are only estimates. They can’t tell you how long you’ll live or how you’ll respond to treatment. For more information about survival rates, talk with your healthcare provider.

Treatment for desmoid tumors varies depending on the size and location of the mass. Options include medications, surgery, chemotherapy, radiation therapy or careful monitoring. Even though desmoid tumors are noncancerous, they can still be aggressive. In many cases, they grow into nearby organs and structures. For this reason, people with desmoid tumors are often treated by oncologists (cancer doctors).

Dental procedures

People who have dental abnormalities due to Gardner syndrome can choose to undergo specific procedures to address these issues.

Prevention

How can I reduce my risk for Gardner syndrome?

Because Gardner syndrome is an inherited condition, there is no known way to prevent it from occurring altogether. However, early diagnosis and management can significantly reduce your risk for related cancers. If you’ve been diagnosed with Gardner syndrome, the best thing you can do is visit your healthcare provider regularly for screenings and adhere to any treatment recommendations.

Outlook / Prognosis

What can I expect if I have Gardner syndrome?

Gardner syndrome can be a life-limiting diagnosis in some cases. Without treatment, nearly all people with the condition will develop colon cancer at some point. The average age for colon cancer diagnosis in people with Gardner syndrome is 39.

The long-term prognosis depends on the age of diagnosis and the symptoms experienced.

Is there a cure for Gardner syndrome?

No. There is no known cure for Gardner syndrome. But the condition can be managed with frequent screenings and prompt treatment.

Living With

When should I see my healthcare provider?

If you’ve been diagnosed with Gardner syndrome, you should visit your healthcare provider on a routine basis. They'll run tests and ask you about your symptoms to ensure that existing polyps don’t grow out of control. If the condition becomes cancerous, your provider will design a personalized treatment plan for your needs.

People with Gardner syndrome should also call their healthcare provider if they notice any new or worsening symptoms. Early management is the best way to reduce your risk for cancer.

A note from Cleveland Clinic

A Gardner syndrome diagnosis can feel scary and uncertain. But many people with the condition enjoy long, fulfilling lives with early management and treatment. Ask your healthcare provider for resources to keep you well-informed. There are also organizations that are committed to supporting people with Garner syndrome and its associated symptoms, such as the Colon Cancer Alliance, the Desmoid Tumor Research Foundation and Fight Colorectal Cancer. In addition, consider joining one of the many support groups available. Getting to know people who are going through the same thing can be beneficial for your overall mental and emotional health.

Last reviewed by a Cleveland Clinic medical professional on 11/08/2021.

References

  • Charifa A, Jamil RT, Zhang X. Gardner Syndrome. (https://www.ncbi.nlm.nih.gov/books/NBK482342/) [Updated 2021 Jun 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Accessed 11/8/2021.
  • Koh KJ, Park HN, Kim KA. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. (https://pubmed.ncbi.nlm.nih.gov/28035305/) Imaging Sci Dent. 2016 Dec;46(4):267-272. Accessed 11/8/2021.
  • National Center for Advancing Translational Sciences. Gardner syndrome. (https://rarediseases.info.nih.gov/diseases/6482/gardner-syndrome) Accessed 11/8/2021.
  • Tayeb Tayeb C, Parc Y, Andre T, Lopez-Trabada Ataz D. Polypose adénomateuse familiale, tumeurs desmoïdes et syndrome de Gardner [Familial adenomatous polyposis, desmoid tumors and Gardner syndrome (https://pubmed.ncbi.nlm.nih.gov/31882269/) ]. Bull Cancer. 2020 Mar;107(3):352-358. Accessed 11/8/2021.
  • U.S. National Library of Medicine. Total proctocolectomy and ileal-anal pouch. (https://medlineplus.gov/ency/article/007380.htm) Accessed 11/8/2021.

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