Familial Adenomatous Polyposis

What is Familial Adenomatous Polyposis?

Familial adenomatous polyposis (FAP) is a genetic disorder characterized by the development of hundreds to thousands of small, precancerous polyps (adenomas) in the colon and rectum. While these polyps start out benign, there is a high chance they could develop into colorectal cancer if left untreated.

Because of the high risk associated with FAP, early detection and proactive management are critical. Our goal is to identify the condition before cancer develops and to manage the health of the entire digestive tract to ensure a long, healthy life.

Causes and Genetics

FAP is caused by a mutation in the APC gene. This gene is a tumor suppressor gene, meaning its job is to keep cell growth in check. When the gene is mutated, cells in the colon grow out of control, leading to the formation of massive numbers of polyps.

• Inheritance: FAP is an autosomal dominant condition. This means a patient only needs to inherit the mutated gene from one parent to develop the disease. If a parent has FAP, there is a high chance they will pass it on to their children.
• De Novo Mutations: In some cases, the mutation occurs spontaneously in an individual with no family history of the disorder. However, once a person has this mutation, they can pass it on to their children.

Symptoms of FAP

In the early stages, FAP often causes no symptoms. Most patients feel perfectly healthy even while polyps are beginning to form. This is why knowing your family history and undergoing genetic screening is so vital.

When symptoms do appear, they can be similar to other digestive conditions and may include:

• Rectal Bleeding: Blood in the stool or on toilet paper.
• Changes in Bowel Habits: Unexplained diarrhea or constipation lasting more than a few days.
• Abdominal Pain: Cramping or discomfort.
• Unexplained Weight Loss.
• Anemia: Fatigue due to blood loss.

In addition to colon polyps, FAP can cause benign tumors elsewhere in the body, such as fibrous tissue tumors, cysts under the skin, or polyps in the stomach and small intestine.

Diagnosing Familial Adenomatous Polyposis

Diagnosis usually begins with a review of family history. If FAP is suspected, a combination of genetic testing and visual examination is used to confirm the diagnosis.

Diagnostic procedures typically include:

Treatment and Management Options for FAP

The primary goal of treating FAP is to prevent colorectal cancer. Because the risk of cancer is so high, surgery is almost always required.

Treatment strategies include: