Familial adenomatous polyposis (FAP) is a common hereditary disease characterized by the formation of numerous adenomatous polyps in the large intestine. If left untreated, these polyps may develop into malignant tumors, significantly increasing the risk of colorectal cancer. However, the causes and effects of this genetic defect are often unknown and even hidden silently in many families.
According to research, untreated FAP patients have a 7% chance of developing colorectal cancer at age 21, and this rate increases to 87% by age 45.
There are three variants of FAP, the most common and most severe of which is traditional FAP, in addition to mild FAP and autologous latent FAP. These variations all originate from different gene mutations, especially the APC gene, which plays an important role. The function of the APC gene is to produce a tumor-suppressing protein that normally prevents cells from developing into tumors. Once the APC gene mutates, these cells grow out of control and may eventually develop into tumors and cancer.
This condition may develop in adolescence or early adulthood, but due to its long incubation period, many patients are already in the late stages when symptoms appear.
The diagnosis of FAP usually relies on genetic testing and colonoscopy. Genetic testing can help determine whether a person has the gene mutation that causes FAP. In addition, colonoscopy is the best way to detect polyps and their number in the intestines. For family members who have been infected, preventive surgery may be necessary to prevent cancer from developing.
Without colectomy, FAP patients are almost certain to develop colorectal cancer or have more than 100 adenomas by age 35.
However, the symptoms of FAP are usually not noticeable in the early stages, so even when symptoms such as weight loss and changes in bowel habits appear in the late stages, patients may already be at dangerous risk of cancer. In many cases, FAP may not even show noticeable signs for many years.
Therefore, it is particularly important to pay attention to family medical history and regular screening. If a family member has suffered from FAP or related tumor diseases, genetic counseling and further genetic testing are recommended, which is not only a very important protective measure for personal health, but also for family members.
Studies have shown that family screening and registration systems can significantly reduce the mortality rate of FAP patients and promote the understanding and management of FAP.
Finally, FAP is a disease that requires long-term monitoring, and early endoscopic screening and, if necessary, surgical intervention can significantly improve the patient's chances of survival. In the face of growing health risks, are you ready to understand your risks and take action?