What are the symptoms of familial adenomatous polyposis?

Familial adenomatous polyposis (FAP) is a rare genetic disorder characterized by the development of hundreds to thousands of adenomatous polyps in the colon and rectum. These polyps are benign (noncancerous) initially but have the potential to become cancerous over time if not treated. Symptoms of FAP can vary depending on the number and size of polyps present, but may include:

1. Rectal bleeding: Blood in the stool or bleeding from the rectum.
2. Changes in bowel habits: Persistent diarrhea, constipation, or narrowing of the stool.
3. Abdominal pain: Cramping or discomfort in the abdomen.
4. Anemia: Due to chronic blood loss from the polyps.
5. Unexplained weight loss: A result of decreased appetite or other factors related to the condition.
6. Fatigue: Due to anemia or other factors related to the condition.
7. Rectal prolapse: The rectum may protrude from the anus.
8. Excessive gas or bloating: Due to changes in bowel habits and digestion.
9. Nausea or vomiting: In severe cases or if there is a blockage in the intestines.
10. Increased risk of colorectal cancer: Individuals with FAP have a significantly increased risk of developing colorectal cancer, especially if the condition is not treated.

It’s important to note that many individuals with FAP do not experience symptoms until later stages of the disease, when complications such as colorectal cancer may have developed. Regular screenings and monitoring for polyps are crucial for individuals with FAP to detect and remove polyps before they become cancerous. If you or a family member have a history of FAP or are experiencing symptoms suggestive of the condition, it’s important to seek medical evaluation by a healthcare provider and genetic counseling.

What are the causes of familial adenomatous polyposis?

Familial adenomatous polyposis (FAP) is caused by mutations in the APC gene (adenomatous polyposis coli gene), which is a tumor suppressor gene. These mutations are usually 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.

The APC gene plays a role in controlling cell growth and division, and mutations in this gene can lead to uncontrolled growth of cells in the lining of the colon and rectum, resulting in the formation of adenomatous polyps. These polyps are benign (noncancerous) initially but have the potential to become cancerous over time if not treated.

In some cases, individuals with FAP may have a new mutation in the APC gene that is not inherited from a parent (de novo mutation). These individuals can still pass the mutated gene on to their children.

It’s important to note that not all individuals with a mutation in the APC gene will develop FAP, and the severity of the condition can vary widely among affected individuals. Genetic counseling is recommended for individuals with a family history of FAP or who are concerned about their risk of inheriting the condition.

What is the treatment for familial adenomatous polyposis?

The treatment for familial adenomatous polyposis (FAP) typically involves a combination of surveillance, medications, and surgery to reduce the risk of developing colorectal cancer and manage symptoms. The goals of treatment are to remove or reduce the number of polyps, prevent the development of cancer, and improve quality of life. Treatment options for FAP may include:

1. Surveillance: Regular screening tests, such as colonoscopies, are recommended to monitor for the development of polyps and cancer. The frequency of screenings depends on the individual’s risk factors and the presence of polyps.
2. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin or sulindac, may be recommended to reduce the size and number of polyps in individuals with FAP. However, these medications can have side effects and should be used under the guidance of a healthcare provider.
3. Surgery: Surgical removal of the colon (colectomy) may be recommended for individuals with FAP to reduce the risk of developing colorectal cancer. In some cases, a procedure called a proctocolectomy with ileoanal pouch anastomosis (IPAA) may be performed, which involves removing the colon and rectum and creating a pouch from the small intestine to allow for normal bowel movements.
4. Genetic counseling: Genetic counseling is recommended for individuals with FAP and their families to discuss the genetic basis of the condition, inheritance patterns, and options for testing and management.
5. Lifestyle modifications: Eating a healthy diet, maintaining a healthy weight, regular exercise, and avoiding tobacco and excessive alcohol use can help reduce the risk of developing colorectal cancer and improve overall health.
6. Emotional support: Coping with a chronic condition like FAP can be challenging, and individuals with FAP may benefit from counseling or support groups to help them manage the emotional aspects of the condition.

Treatment for FAP is typically lifelong and requires regular monitoring and follow-up care. It’s important for individuals with FAP to work closely with a healthcare team experienced in managing the condition to develop a personalized treatment plan.