Gardner Syndrome Causes and Symptoms

Gardner’s syndrome is a rare genetic disorder. It usually causes benign or non-cancerous growths. It is classified as a subtype of familial adenomatous polyposis, which causes colon cancer.

Gardner’s syndrome can lead to growths on various areas of the body. Tumors are most commonly found in the colon, sometimes in large numbers.

In addition to polyps on the colon, growths can develop, including fibromas, desmoid tumors, and sebaceous cysts, which are fluid-filled growths under the skin.

The condition is considered rare. It occurs in about one in 8,000 people

What Causes Gardner’s Syndrome?

The syndrome is a genetic condition, which means it is inherited. The adenomatous polyposis coli (APC) gene produces APP protein.

APC protein regulates cell growth and prevents cells from dividing too fast. People with Gardner’s syndrome have a defect in the APC gene.

This affects cell growth, which leads to abnormal tissue growth. What causes the mutation of the gene has not been determined.

Who Is at Risk for Gardner’s Syndrome?

The main risk factor for developing Gardner’s syndrome is having at least one parent with the condition.

What Are the Symptoms of Gardner’s Syndrome?

The main symptom of Gardner’s syndrome is multiple growths in the colon. The growths are also known as polyps. Although the number of growths varies, they can be in the hundreds.

In addition to growths on the colon, extra teeth can develop, along with bony tumors on the skull. Another common symptom of Gardner’s syndrome is cysts, which can form under the skin on various parts of the body. Fibromas and epithelial cysts are common.

People with the syndrome also have a higher risk of developing colon cancer.

How common is familial adenomatous polyposis?

The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals.

What genes are related to familial adenomatous polyposis?

Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function.

Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis.

Although most people with mutations in the APC gene will develop colorectal cancer, the number of polyps and the time frame in which they become malignant depend on the location of the mutation in the gene.

Mutations in the MUTYH gene cause autosomal recessive familial adenomatous polyposis (also called MYH-associated polyposis).

Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division.

As these mistakes build up in a person’s DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.

How do people inherit familial adenomatous polyposis?

Familial adenomatous polyposis can have different inheritance patterns.

When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

How Is Gardner’s Syndrome Diagnosed?

Symptoms may suggest Gardner’s syndrome. A doctor may use a blood test to check for the syndrome if multiple colon polyps or other symptoms have been detected.

A blood test for Gardner’s syndrome determines if there is an APC gene mutation.

How Is Gardner’s Syndrome Treated?

Because people with Gardner’s syndrome have a higher risk of developing colon cancer, treatment is usually aimed at preventing this.

Medications such as a COX2 inhibitor may be used to limit the growth of colon polyps. But the medication is not always successful.

Treatment also involves close monitoring of the polyps to make sure they do not become malignant. In some cases, removal of the colon may be recommended in order to prevent colon cancer from developing.

If dental abnormalities are present, treatment may be recommended to correct problems.

As with all medical conditions, a healthy lifestyle with proper nutrition, exercise, and stress-reduction activities can help people with the syndrome to cope with related physical and emotional issues.

What Is Gardner’s Syndrome?

Gardner’s syndrome is a rare genetic disorder. It usually causes benign or non-cancerous growths. It is classified as a subtype of familial adenomatous polyposis, which causes colon cancer.

Gardner’s syndrome can lead to growths on various areas of the body. Tumors are most commonly found in the colon, sometimes in large numbers.

In addition to polyps on the colon, growths can develop, including fibromas, desmoid tumors, and sebaceous cysts, which are fluid-filled growths under the skin.

The condition is considered rare. It occurs in about one in 8,000 people (American Society of Clinical Oncology).

What Causes Gardner’s Syndrome?

The syndrome is a genetic condition, which means it is inherited. The adenomatous polyposis coli (APC) gene produces APP protein.

APC protein regulates cell growth and prevents cells from dividing too fast. People with Gardner’s syndrome have a defect in the APC gene.

This affects cell growth, which leads to abnormal tissue growth. What causes the mutation of the gene has not been determined.

Who Is at Risk for Gardner’s Syndrome?

The main risk factor for developing Gardner’s syndrome is having at least one parent with the condition.

What Are the Symptoms of Gardner’s Syndrome?

The main symptom of Gardner’s syndrome is multiple growths in the colon. The growths are also known as polyps. Although the number of growths varies, they can be in the hundreds.

In addition to growths on the colon, extra teeth can develop, along with bony tumors on the skull. Another common symptom of Gardner’s syndrome is cysts, which can form under the skin on various parts of the body.

Fibromas and epithelial cysts are common. People with the syndrome also have a higher risk of developing colon cancer.

How Is Gardner’s Syndrome Diagnosed?

Symptoms may suggest Gardner’s syndrome. A doctor may use a blood test to check for the syndrome if multiple colon polyps or other symptoms have been detected.

A blood test for Gardner’s syndrome determines if there is an APC gene mutation.

How Is Gardner’s Syndrome Treated?

Because people with Gardner’s syndrome have a higher risk of developing colon cancer, treatment is usually aimed at preventing this.

Medications such as a COX2 inhibitor may be used to limit the growth of colon polyps. But the medication is not always successful.

Treatment also involves close monitoring of the polyps to make sure they do not become malignant. In some cases, removal of the colon may be recommended in order to prevent colon cancer from developing.

If dental abnormalities are present, treatment may be recommended to correct problems.

As with all medical conditions, a healthy lifestyle with proper nutrition, exercise, and stress-reduction activities can help people with the syndrome to cope with related physical and emotional issues.

What Is the Outlook for Gardner’s Syndrome?

The prognosis for people with Gardner’s syndrome varies, depending on the severity of symptoms.

According to Stanford Medicine, people who have an APC gene mutation such as Gardner’s syndrome have an increasingly high chance of developing colon cancer as they age.

Without surgical treatment, almost all people with the APC gene mutation will develop colon cancer by age 40.

What other names do people use for familial adenomatous polyposis?

  • Adenomatous Polyposis Coli
  • Adenomatous Polyposis of the Colon
  • Colon Cancer, Familial
  • Familial Intestinal Polyposis
  • Familial Multiple Polyposis
  • Familial Multiple Polyposis Syndrome
  • Familial Polyposis Coli
  • Familial Polyposis Syndrome
  • FAP
  • Hereditary Polyposis Coli
  • MYH-associated Polyposis
  • Polyposis Coli

How Is Gardner’s Syndrome Prevented?

Since the condition is inherited, there is no way to prevent it. Genetic testing is possible to determine if a person carries the gene mutation.

Source & More Info: Healthline and Medicine Net

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