Gardner Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Prevention
Genetic disorder Gardner syndrome causes noncancerous masses to grow in the colon and rectum, known as polyps. As these polyps grow, they can become cancerous, increasing the risk of colorectal cancer. In addition to the increased risk of colon and rectal cancer, Gardner syndrome can also cause other medical problems, such as:
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Soft tissue tumors: Gardner syndrome can cause noncancerous tumors to grow in the skin, bones, and other tissues.
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Abnormal growth of teeth and jaw: People with Gardner syndrome may experience abnormal growth of the teeth and jaw, which can cause dental problems and facial asymmetry.
Gardner syndrome is caused by mutations in the APC gene, which is responsible for controlling cell growth and division.
Causes of Gardner Syndrome
Inheritance of Gardner Syndrome occurs from a dominant gene. When a person inherits Gardner Syndrome from a dominant gene, their offspring are 50% likely to inherit the APC gene variant. In order to prevent cells from dividing and multiplying too quickly, the APC gene controls cell growth. Changes in the gene can lead to polyps and other tissues growing.
Symptoms of Gardner Syndrome
Some people with Gardner syndrome may not experience any symptoms. However, others may experience effects such as:
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Cramping
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Diarrhea
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Rectal bleeding
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Constipation and obstruction
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Vomiting
The other signs of Gardner syndrome are abnormal growths. In addition to the polyps that grow in the colon and rectum, people may develop:
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Extra teeth
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Cysts under the skin
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Tumors and bumps on bones
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Tumors or growths in fibrous tissues, such as ligaments and tendons
Diagnosis of Gardner Syndrome
Symptoms of Gardner syndrome can be diagnosed by a combination of medical history, physical examination, and genetic testing. People who experience symptoms or are at risk may be ordered to have a blood test to check for changes to the APC gene. In order to detect abnormal growths in the colon, screening and testing for Gardner syndrome often requires colon imaging. Screenings can be recommended by healthcare professionals to monitor people at risk for Gardner syndrome. Types of tests used for screening include:
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Colonoscopy
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Sigmoidoscopy
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Esophagogastroduodenoscopy
Treatment of Gardner Syndrome
The treatment for Gardner syndrome involves managing the symptoms and reducing cancer risk. The treatment plan could include the following:
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Monitoring: Imaging and screening tests to monitor for additional growths.
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Surgery: Surgery to remove the polyps and tumors, as well as the entire colon and rectum in some cases.
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Medication: Medication to reduce the number and size of polyps, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or celecoxib.
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Chemotherapy and radiation therapy: These treatments may be used to shrink or destroy cancerous cells in the colon or rectum.
Prevention of Gardner Syndrome
There is no way to prevent Gardner syndrome, as it is a genetic condition. However, people with Gardner syndrome or a family history of the condition can take steps to reduce their risk of complications, such as:
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Getting regular screenings and check-ups to detect and treat polyps and tumors early.
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Following a healthy diet and lifestyle to lower the risk of colorectal cancer.
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Seeking genetic counseling and testing to understand the risks and options for themselves and their family members.
Outlook
The Gardner syndrome is a serious condition that can cause life-threatening complications, including colorectal cancer. Nevertheless, with proper diagnosis and treatment, Gardner syndrome patients can live longer and healthier lives. The outlook for Gardner syndrome patients depends on several factors, including:
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The number and size of polyps and tumors.
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The stage and type of colorectal cancer.
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The response to treatment and follow-up care.
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The presence of other medical conditions or complications.
