Gardner syndrome is a rare genetic condition where abnormal growths, called polyps, develop in the large intestine.
There is no cure for Gardner syndrome. However, regular screening and treatment help manage the symptoms.
This article explores what this syndrome is, the causes, symptoms, diagnosis, treatment, and prevention, and answers some frequently asked questions.
Gardner syndrome is a form of familial adenomatous polyposis (FAP), where numerous growths develop in the large intestine. These growths may be benign or cancerous.
While most of these growths are benign or noncancerous, people with Gardner syndrome have a
The Genetic and Rare Diseases Information Center (GARD) estimates that about 50,000 people in the United States have Gardner syndrome.
The polyps usually appear between 13 and 31 years of age. Most people begin experiencing symptoms and receive a diagnosis by around
A genetic mutation in the adenomatous polyposis coli (APC) gene results in Gardner syndrome. The APC gene regulates cell growth by preventing cells from dividing. Changes in the APC gene lead to polyps and other tissue growth.
When a person has a condition due to a dominant gene, such as Gardner Syndrome, their offspring have a
Some people with Gardner syndrome may not experience any symptoms. However, others may experience effects such as:
- cramping
- diarrhea
- rectal bleeding
- constipation and obstruction
- 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:
Healthcare professionals may order a blood test for people at risk of Gardner syndrome or those experiencing symptoms. The blood test looks for changes to the APC gene.
Screening and testing for Gardner syndrome often require colon imaging to look for abnormal growths. Healthcare professionals may recommend regular screenings to monitor people at risk for Gardner syndrome. Types of tests used for screening can include:
- colonoscopy
- sigmoidoscopy
- esophagogastroduodenoscopy
- physical exams
The treatment for Gardner syndrome involves managing the symptoms and reducing cancer risk. The
- Monitoring: Imaging and screening tests to monitor for additional growth.
- Medications: Nonsteroidal anti-inflammatory drugs (sulindac) or COX2 inhibitors (celecoxib) may help manage symptoms and limit the growth of polyps.
- Surgery: If a person has more than 20 polyps or high risk polyps, a healthcare professional may recommend surgically removing part or all of the colon and rectum to reduce cancer risk.
Lifestyle changes may also help promote a person’s overall health. A balanced diet, exercise, managing stress, and getting enough sleep may benefit a person’s symptoms.
A medical professional may recommend other treatments, such as dental work for extra teeth.
Gardner syndrome is a genetic condition, and there is no known way to prevent it from developing.
People at high risk of Gardner syndrome must have regular follow-ups with a doctor. Early diagnosis and management help
People with a parent or family member with Gardner syndrome might benefit from talking with a healthcare professional. They may recommend a genetic blood test to look for APC gene mutations.
The outlook for people with Gardner syndrome depends on the symptoms and age at diagnosis. People with the APC gene mutation have a significantly higher risk of developing cancer.
Without surgery and management, almost all people with polyp growth and an APC gene mutation will develop colon cancer by
Regular physical exams and following a treatment plan may help lower the risk of developing cancer with Gardner syndrome.
Below are the answers to some common questions about Gardner syndrome.
How long do people live with Gardner syndrome?
Without treatment, Gardner syndrome may lower life expectancy as it increases colon cancer risk at an early age. However, treatment can help manage growth, lower cancer risk, and increase life expectancy.
What can people expect from living with Gardner syndrome?
Individuals with Gardner syndrome experience hundreds or thousands of abnormal
People with Gardner syndrome need to schedule regular checkups with a healthcare professional to monitor the growth and manage symptoms.
What is Gardner syndrome vs. Gardner-Diamond syndrome?
Gardner syndrome is a
Meanwhile, Gardner-Diamond syndrome is a rare condition causing painful, unexplained bruises during stressful times or after trauma or surgery.
Gardner syndrome is a rare genetic condition where a mutation in the APC gene causes hundreds to thousands of growths to form in the colon and other areas of the body.
Some people may not experience symptoms, but others may experience gastrointestinal symptoms.
There is no cure for Gardner syndrome. However, regular screening and treatment help manage the symptoms. People with Gardner syndrome have a higher risk of developing cancer earlier in life. Regularly following up with a healthcare professional and following treatment plans may help decrease the severity of symptoms and cancer risk.