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Hidden Crisis in FAP Families: Fatal Risks You May Not Be Aware of!
Familial adenomatous polyposis (FAP) is an autologous dominant genetic disorder involving the formation of numerous adenomatous polyps in the large intestinal epithelium. These polyps are usually benign initially, but if left untreated, they can turn malignant into colorectal cancer. According to current research, there are several variations of FAP, with FAP itself being the most severe and common.
"Whether it is a polyp or cancer in the large intestine, early detection and timely removal can significantly reduce the risk of cancer spread."
FAP is caused by a defect in the APC gene located on chromosome 5, and another variant called attenuated FAP still retains some APC gene function, but its efficiency has been reduced. This puts patients with FAP at a significantly increased risk of cancer, especially if untreated, and the incidence of cancer increases rapidly with age.
For example, a person with FAP has a 7% risk of developing cancer at age 21, which rises to 87% by age 45. This type of disease is expected to attract more attention among younger people. However, many patients may not notice physical changes during physical examination.
"The potential danger of FAP is that its development process is often silent, and its potential threat is not revealed until it reaches the advanced stage of cancer."
In addition to the main signature polyps, patients with FAP may present with a variety of additional signs, such as dental cysts, dermatofibromas, and thyroid cancer. The development of these additional cancers has doubled the management challenges and enormous medical needs of FAP patients.
Gene mutations play a central role in the development of FAP. With in-depth research on APC gene mutations, scientists have confirmed that such mutations not only affect the formation of adenomas, but are also closely related to the occurrence of other cancers. Therefore, it is especially important for individuals with a family history to undergo genetic testing.
"Carrying out genetic testing can effectively check potential FAP risks and take preventive measures early."
For people with a family history, regular bowel monitoring can catch polyps before they become malignant. Medical experts recommend that once FAP is diagnosed, regular colonoscopies should be started and lifelong monitoring should be performed every 1-3 years.
The key to FAP management is screening. Depending on the variant of FAP, treatment options may vary. Colon and rectal resection may be necessary for patients with severe FAP, and individual management options may be available for patients with attenuated FAP.
In addition to surgery, recent research has shown the potential effectiveness of certain NSAIDs (nonsteroidal anti-inflammatory drugs) in reducing the number of polyps. However, these drugs do not completely eliminate the risk of cancer, so patients still need to be monitored regularly.
"In the management of FAP, early identification and timely treatment are crucial to reduce the risk of future development of colorectal cancer."
Overall, the risks of FAP and its variants cannot be ignored. Without proper testing and monitoring, patients may unknowingly develop potentially more dangerous health conditions.
For individuals with historical symptoms in their families, should they be more vigilant and undergo genetic screening to protect themselves and their families’ health?
