Familial Adenomatous Polyposis - Cancer Science

What is Familial Adenomatous Polyposis?

Familial Adenomatous Polyposis (FAP) is an inherited disorder characterized by the early onset of hundreds to thousands of polyps in the lining of the colon and rectum. These polyps are initially benign but have a high potential to turn into colorectal cancer if not properly managed.

How is Familial Adenomatous Polyposis Diagnosed?

Diagnosis of FAP typically involves a combination of family history, genetic testing, and clinical evaluation through colonoscopy. Genetic tests look for mutations in the APC gene, which is responsible for the disorder. Early diagnosis is crucial for managing the disease and reducing the risk of cancer development.

What are the Symptoms of Familial Adenomatous Polyposis?

The primary symptom of FAP is the presence of numerous polyps in the colon and rectum, which can cause symptoms like rectal bleeding, abdominal pain, and changes in bowel habits. Other symptoms may include dental abnormalities, benign skin and bone tumors, and congenital hypertrophy of the retinal pigment epithelium (CHRPE).

What is the Risk of Cancer in Familial Adenomatous Polyposis?

Individuals with FAP have an almost 100% risk of developing colorectal cancer by the age of 40 if the condition is not treated. The polyps usually begin appearing in the teenage years, and their number increases with age, significantly raising the risk of malignancy.

What are the Treatment Options for Familial Adenomatous Polyposis?

Treatment for FAP often involves a combination of surveillance and surgical interventions. Regular colonoscopy and polypectomy are performed to monitor and remove polyps. In more advanced cases, a prophylactic colectomy (surgical removal of the colon) may be recommended to prevent cancer. Additionally, medications like nonsteroidal anti-inflammatory drugs (NSAIDs) may help reduce polyp formation.

How Can Familial Adenomatous Polyposis Be Managed Long-Term?

Long-term management of FAP requires a multidisciplinary approach involving gastroenterologists, geneticists, surgeons, and other specialists. Regular monitoring and follow-up are essential to manage polyp growth and reduce cancer risk. Genetic counseling is also recommended for affected families to understand the implications and options for future generations.

What is the Role of Genetic Counseling in Familial Adenomatous Polyposis?

Genetic counseling plays a crucial role in managing FAP. It helps affected individuals and their families understand the hereditary nature of the disorder, the risks involved, and the importance of genetic testing. Counseling also provides guidance on preventive measures, treatment options, and family planning.

Is There Any Way to Prevent Familial Adenomatous Polyposis?

Currently, there is no way to prevent the genetic mutation that causes FAP. However, early detection through genetic testing and proactive management can prevent the progression to colorectal cancer. Individuals with a family history of FAP should undergo genetic screening to identify the presence of the APC mutation early in life.

What Research is Being Conducted on Familial Adenomatous Polyposis?

Ongoing research on FAP focuses on understanding the genetic mechanisms behind the disorder, improving early detection methods, and developing new treatments to prevent polyp formation and progression to cancer. Clinical trials are also investigating the efficacy of various pharmacological agents in managing FAP.