What are the symptoms of Gardner syndrome?

Gardner syndrome is a rare genetic disorder that is part of a group of conditions known as familial adenomatous polyposis (FAP) syndromes. Gardner syndrome is characterized by the development of multiple polyps in the colon and rectum, as well as other symptoms. Common symptoms of Gardner syndrome may include:

1. Colorectal polyps: Gardner syndrome is characterized by the development of hundreds to thousands of polyps in the colon and rectum. These polyps are noncancerous (benign) initially but have the potential to become cancerous over time if not treated.
2. Gastrointestinal bleeding: Bleeding from the rectum or blood in the stool may occur due to the presence of colorectal polyps.
3. Abdominal pain: Some individuals with Gardner syndrome may experience abdominal pain or cramping, especially if the polyps are large or numerous.
4. Changes in bowel habits: Gardner syndrome can cause changes in bowel habits, such as diarrhea, constipation, or a feeling of incomplete bowel emptying.
5. Other gastrointestinal symptoms: Other gastrointestinal symptoms may include nausea, vomiting, and weight loss.
6. Soft tissue tumors: Gardner syndrome is also associated with the development of soft tissue tumors, such as desmoid tumors, which can occur in various parts of the body, including the abdomen, pelvis, and extremities.
7. Dental abnormalities: Gardner syndrome can cause dental abnormalities, such as extra teeth or impacted teeth.
8. Other skeletal abnormalities: Some individuals with Gardner syndrome may have other skeletal abnormalities, such as osteomas (benign bony growths) or congenital hypertrophy of the retinal pigment epithelium (CHRPE), which are changes in the pigmented layer of the retina.

It’s important to note that the symptoms of Gardner syndrome can vary widely from person to person, and not all individuals will experience all of these symptoms. If you or a family member has been diagnosed with Gardner syndrome or is at risk, it’s important to undergo regular screening and surveillance by a healthcare provider to detect and manage colorectal polyps and other associated conditions.

What are the causes of Gardner syndrome?

Gardner syndrome is caused by mutations in the APC gene, which is involved in regulating cell growth and division. The APC gene provides instructions for making a protein that helps control the activity of another protein called beta-catenin. Beta-catenin plays a role in the Wnt signaling pathway, which is important for regulating cell proliferation and cell fate determination.

Mutations in the APC gene can lead to the accumulation of beta-catenin in cells, which can result in the uncontrolled growth and division of cells, leading to the formation of polyps in the colon and rectum. These polyps are initially benign but have the potential to become cancerous over time if not treated.

Gardner syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. If a person inherits a mutated APC gene, they have a 50% chance of passing the mutation on to each of their children.

It’s important to note that not all individuals with mutations in the APC gene will develop Gardner syndrome, and the severity of the condition can vary widely among affected individuals. Genetic counseling and testing can help individuals understand their risk of developing Gardner syndrome and make informed decisions about their healthcare.

What is the treatment for Gardner syndrome?

The treatment for Gardner syndrome typically involves a combination of surveillance, medication, and surgery to manage symptoms and reduce the risk of developing complications, such as colorectal cancer. Treatment options may include:

1. Colonoscopy and polyp removal: Regular colonoscopies are recommended to monitor for the development of polyps in the colon and rectum. Polyps can be removed during the colonoscopy to reduce the risk of them becoming cancerous.
2. Medication: Nonsteroidal anti-inflammatory drugs (NSAIDs), such as sulindac, may be prescribed to help reduce the number and size of polyps in the colon and rectum.
3. Surgery: In some cases, surgery may be recommended to remove the colon (colectomy) or part of the colon (partial colectomy) to reduce the risk of developing colorectal cancer. Surgery may also be necessary to remove desmoid tumors or other complications of Gardner syndrome.
4. Genetic counseling and testing: Genetic counseling and testing can help individuals understand their risk of developing Gardner syndrome and make informed decisions about their healthcare.
5. Regular monitoring: Regular monitoring by a healthcare team, including gastroenterologists, surgeons, and other specialists, is important to detect and manage complications of Gardner syndrome early.

It’s important for individuals with Gardner syndrome to work closely with a healthcare team to develop a personalized treatment plan based on their individual symptoms and risk factors. Early detection and management of colorectal polyps and other complications of Gardner syndrome can help improve outcomes and quality of life.