What is Familial Adenomatous Polyposis (FAP)?
Familial Adenomatous Polyposis (FAP) is a rare, inherited disorder characterized by the development of hundreds to thousands of benign
polyps in the lining of the colon and rectum. If left untreated, these polyps have a high likelihood of becoming malignant, leading to
colorectal cancer at a young age.
What Causes FAP?
FAP is caused by mutations in the
APC gene. This gene mutation is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from either parent is sufficient to cause the disorder. The
genetic mutation leads to uncontrolled cell growth in the colon.
How Common is FAP?
FAP is rare, affecting approximately 1 in 10,000 people worldwide. However, it accounts for about 1% of all colorectal cancer cases, making early diagnosis and management crucial.
What are the Symptoms?
Individuals with FAP often develop numerous polyps during their teenage years. Symptoms may include:
Blood in the stool
Diarrhea
Abdominal pain
Weight loss
Anemia
If untreated, the polyps may become cancerous, leading to colorectal cancer usually by the age of 40.
How is FAP Diagnosed?
Diagnosis of FAP typically involves a combination of
colonoscopy and genetic testing. During a colonoscopy, numerous polyps can be detected. Genetic testing can confirm mutations in the APC gene. Family history is also considered an important factor in diagnosis.
Prophylactic colectomy: Surgical removal of the colon and rectum, usually recommended when numerous polyps are detected.
Endoscopic surveillance: Regular monitoring and removal of polyps.
Medication: Nonsteroidal anti-inflammatory drugs (NSAIDs) may help reduce polyp growth.
In some cases, additional surgeries may be required to manage polyps in other parts of the gastrointestinal tract.
Can FAP be Prevented?
Since FAP is a genetic disorder, it cannot be prevented. However, early detection through genetic testing and regular screenings can help manage the condition effectively and reduce the risk of developing colorectal cancer.
What is the Prognosis?
With early diagnosis and appropriate treatment, individuals with FAP can have a normal life expectancy. Regular monitoring and timely surgical interventions are critical to managing the risk of colorectal cancer and other associated complications.
How Does FAP Affect Family Members?
Given the hereditary nature of FAP, family members of affected individuals should consider genetic counseling and testing. Early detection in family members can help in timely intervention and management of the condition, thereby reducing the risk of colorectal cancer.
