How do I know if I have Familial Adenomatous Polyposis?

Familial Adenomatous Polyposis (FAP) is a rare genetic disorder characterized by the development of numerous polyps in the colon and rectum. These polyps are noncancerous initially but have the potential to become cancerous over time if left untreated. FAP is an inherited condition caused by mutations in the APC gene.

If you suspect that you may have FAP or have a family history of the condition, it is important to consult with a healthcare professional for a proper diagnosis. Here are some key indicators that may suggest the presence of FAP:

1. Family History: FAP is typically inherited from a parent who has the condition. If you have a close relative (parent, sibling, or child) with a confirmed diagnosis of FAP, your risk of having the condition increases.


2. Presence of Polyps: FAP is characterized by the development of multiple polyps in the colon and rectum. These polyps usually start appearing during teenage years or early adulthood. If you notice the presence of numerous polyps during a colonoscopy or other diagnostic tests, it may indicate FAP.


3. Extra-intestinal Manifestations: FAP can also cause certain non-colonic manifestations, such as benign growths in the bones (osteomas), benign tumors in the skin (epidermoid cysts), and dental abnormalities. These manifestations can further support the suspicion of FAP.


4. Genetic Testing: Genetic testing can confirm the presence of mutations in the APC gene, which is responsible for FAP. A blood sample or cheek swab is usually taken to analyze the DNA and identify any genetic abnormalities.


5. Regular Screening: If you have a family history of FAP or have been diagnosed with the condition, regular screening is crucial. Colonoscopies are typically recommended starting in the teenage years to detect and remove polyps before they become cancerous.

Remember, only a healthcare professional can provide an accurate diagnosis of Familial Adenomatous Polyposis. If you suspect you may have FAP or have concerns about your risk, it is important to seek medical advice promptly. Early detection and appropriate management can significantly improve outcomes for individuals with FAP.