Gardner Syndrome: Symptoms, Causes, Treatment

What are the symptoms of Gardner syndrome?

Gardner syndrome, also known as familial adenomatous polyposis (FAP), is a rare genetic disorder that is characterized by the development of numerous polyps in the colon and rectum. In addition to colon polyps, Gardner syndrome can cause a variety of symptoms and complications. Some common symptoms of Gardner syndrome may include:

Colorectal Polyps: The development of hundreds to thousands of polyps in the colon and rectum is a hallmark feature of Gardner syndrome. These polyps can vary in size and number and can lead to an increased risk of colorectal cancer if not treated.
Osteomas: Osteomas are benign bony growths that can develop on the skull or other bones. They are often asymptomatic but can cause cosmetic issues or, in rare cases, lead to complications if they grow large enough to impinge on nearby structures.
Soft Tissue Tumors: Soft tissue tumors, such as fibromas or lipomas, can develop in various parts of the body in individuals with Gardner syndrome.
Dental Abnormalities: Abnormalities of the teeth, such as supernumerary teeth (extra teeth) or impacted teeth, can occur in individuals with Gardner syndrome.
Desmoid Tumors: Desmoid tumors are rare, noncancerous tumors that can develop in the connective tissue. They can occur in various parts of the body and can cause pain, discomfort, or complications if they grow large enough to press on nearby structures.
Other Symptoms: Other symptoms of Gardner syndrome may include abdominal pain, diarrhea, rectal bleeding, and anemia, which can occur as a result of the presence of colorectal polyps or other complications of the condition.

It’s important to note that not all individuals with Gardner syndrome will experience all of these symptoms, and the severity of symptoms can vary widely among affected individuals. If you or a family member have been diagnosed with Gardner syndrome or have a family history of the condition, it’s important to discuss screening and management options with a healthcare provider familiar with the condition.

What are the causes of Gardner syndrome?

Gardner syndrome is caused by mutations in the APC (adenomatous polyposis coli) gene, which is responsible for regulating cell growth and division. These mutations are inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

The APC gene mutations in Gardner syndrome lead to the development of numerous polyps in the colon and rectum, which can eventually become cancerous if not treated. In addition to colorectal polyps, mutations in the APC gene can also lead to the development of other symptoms and complications associated with Gardner syndrome, such as osteomas, soft tissue tumors, and dental abnormalities.

It’s important to note that not all individuals with APC gene mutations will develop Gardner syndrome, and the severity of the condition can vary widely among affected individuals. Genetic testing can be used to identify APC gene mutations in individuals with a family history of Gardner syndrome or other related conditions, which can help guide screening and management strategies.

How is the diagnosis of Gardner syndrome made?

The diagnosis of Gardner syndrome is typically made based on a combination of clinical evaluation, family history, and genetic testing. Here are some steps that may be involved in the diagnosis:

Clinical Evaluation: Your healthcare provider will perform a thorough physical examination and ask about your medical history and any symptoms you may be experiencing. They will also inquire about your family history, as Gardner syndrome is an inherited condition.
Colorectal Screening: Colorectal screening, such as colonoscopy, may be performed to look for the presence of polyps in the colon and rectum. Individuals with Gardner syndrome often develop hundreds to thousands of polyps, which can increase the risk of colorectal cancer.
Genetic Testing: Genetic testing can be used to identify mutations in the APC gene, which is associated with Gardner syndrome. This test can confirm the diagnosis and help determine the likelihood of developing related complications.
Imaging Studies: Imaging studies, such as X-rays, CT scans, or MRI scans, may be performed to evaluate for the presence of osteomas or other bony abnormalities associated with Gardner syndrome.
Other Tests: Additional tests may be ordered based on your symptoms and the suspected involvement of other organs or systems. For example, if you have soft tissue tumors, a biopsy may be performed to confirm the diagnosis.
Family History Evaluation: Since Gardner syndrome is an inherited condition, your healthcare provider may also inquire about the family history of colorectal polyps, colorectal cancer, or other related conditions.

It’s important to work with a healthcare provider who is familiar with Gardner syndrome and can coordinate appropriate screening and management strategies based on your individual risk factors and symptoms. Early diagnosis and management are key to preventing complications associated with Gardner syndrome.

What is the treatment for Gardner syndrome?

The treatment for Gardner syndrome typically involves a combination of surveillance, surgery, and other interventions to manage symptoms and reduce the risk of complications. Treatment options may include:

Colorectal Surveillance: Regular surveillance with colonoscopy is important to monitor for the development of colorectal polyps and to detect any early signs of colorectal cancer. The frequency of colonoscopy will depend on the number and size of polyps present.
Surgery: Surgical removal of colorectal polyps is often necessary to reduce the risk of colorectal cancer. In some cases, a colectomy (removal of part or all of the colon) may be recommended, especially if there are numerous or large polyps present.
Genetic Counseling: Genetic counseling may be recommended for individuals with Gardner syndrome and their families to discuss the inheritance pattern of the condition and the implications for family members.
Dental Care: Regular dental examinations and care are important to monitor for and manage any dental abnormalities associated with Gardner syndrome, such as supernumerary teeth or impacted teeth.
Management of Other Symptoms: Treatment for other symptoms and complications of Gardner syndrome, such as osteomas or soft tissue tumors, may include surgery, medication, or other interventions as needed.
Lifestyle Modifications: Adopting a healthy lifestyle, including a balanced diet, regular exercise, and avoiding tobacco use, can help reduce the risk of complications associated with Gardner syndrome.

It’s important for individuals with Gardner syndrome to work closely with a healthcare team that is familiar with the condition and can provide ongoing monitoring and management. Early detection and treatment can help reduce the risk of colorectal cancer and other complications associated with Gardner syndrome.

What is the life expectancy of Gardner syndrome?

Gardner syndrome is a rare genetic disorder that is characterized by the development of multiple colorectal tumors, often accompanied by other extracolonic manifestations. The life expectancy of individuals with Gardner syndrome is generally similar to that of the general population, but it can be affected by the presence and severity of the tumors.

According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), people with Gardner syndrome have a higher risk of developing colorectal cancer, which can affect their life expectancy. However, with early detection and treatment, many individuals with Gardner syndrome can lead normal lives.

The life expectancy of individuals with Gardner syndrome is influenced by several factors, including:

Presence and severity of tumors: Individuals with multiple or large tumors have a higher risk of developing colorectal cancer and may have a shorter life expectancy.
Age at diagnosis: Early detection and treatment of tumors can improve outcomes and increase life expectancy.
Genetic mutations: The type and severity of genetic mutations can influence the risk of developing tumors and the overall life expectancy.
Treatment options: Effective treatment options, such as surgery, chemotherapy, and radiation therapy, can improve outcomes and increase life expectancy.

On average, individuals with Gardner syndrome can expect to live into their 50s or 60s. However, some individuals may live longer or shorter lives depending on their individual circumstances.

It’s essential for individuals with Gardner syndrome to work closely with their healthcare providers to monitor their health and develop a treatment plan to manage their condition. Regular screening tests, such as colonoscopies, can help detect tumors early and improve outcomes.