Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is a rare condition where people inherit a faulty gene, called the APC gene, that makes them more likely to develop growths called polyps in their digestive system. This faulty gene is often passed down from a parent. However, sometimes the gene change happens for no apparent reason, affecting about a quarter to a third of those with the condition.

These polyps are extra bits of tissue that grow in the large intestine (colon) and rectum. They can also occur in the upper part of the digestive tract, particularly the first part of the small intestine (duodenum). If left untreated, the polyps in the colon and rectum can turn into cancer, usually by the time a person reaches their 40s.

Unfortunately, most people with FAP eventually need surgery to remove their entire large intestine to prevent cancer. While polyps in the duodenum (upper small intestine) can also become cancerous, these can often be managed by regularly checking for and removing them, rather than needing a full removal of the intestine.

Some people have a less severe form of FAP called attenuated familial adenomatous polyposis (AFAP). People with AFAP typically have fewer polyps in their colon (around 30 on average), and these polyps are less likely to develop into cancer as late in life.

Familial adenomatous polyposis (FAP) is a condition where many polyps – small growths – form in the colon and rectum. These polyps often start appearing in the body during the teenage years. A significant number of these polyps, sometimes hundreds or even thousands, develop. Crucially, almost all of these polyps will become cancerous by the time a person reaches their 40s. This means the condition significantly increases the risk of colon or rectal cancer.

Familial adenomatous polyposis (FAP) is a condition where non-cancerous growths (polyps) form in the colon and rectum. It's often linked to a faulty gene, and usually, a person inherits this faulty gene from a parent. However, in some cases, the faulty gene develops spontaneously, meaning it's not passed down from a family member. This means that even if no one else in a family has had FAP, someone can still develop the condition.

Having a family member with familial adenomatous polyposis (FAP) increases your chances of developing the condition. If a parent, child, sibling (brother or sister), or other close relative has FAP, you're more likely to get it yourself. This is because FAP is often passed down through families, meaning the genes that cause it can be inherited. While having a relative with FAP doesn't guarantee you'll get it, it does make you more susceptible to developing it.

Familial adenomatous polyposis (FAP) isn't just about colon cancer. It can lead to a variety of other health problems.

Problems in the Digestive System:

• Duodenal polyps: These are growths in the first part of the small intestine (the duodenum). They sometimes turn cancerous. Regular checkups and, if needed, surgery to remove the polyps can prevent this.

• Periampullary polyps: These polyps develop where the tubes from the liver and pancreas connect to the small intestine. Like duodenal polyps, they sometimes become cancerous but can often be found and removed before they become a problem.

• Gastric fundic polyps: These are growths in the upper part of the stomach.

Other Potential Problems:

• Desmoids: These are non-cancerous tumors that can grow almost anywhere in the body, but they frequently develop in the abdomen (stomach area). They can cause serious problems if they press on nerves, blood vessels, or other organs.

• Other cancers: In rare cases, FAP can lead to cancer in other parts of the body, including the thyroid, brain, adrenal glands, liver, or other organs.

• Non-cancerous skin growths: FAP can sometimes cause harmless skin tumors.

• Benign bone growths (osteomas): These are non-cancerous growths in the bones.

• Eye problems (CHRPE): This condition involves benign (harmless) changes in the light-sensitive tissue at the back of the eye (retina).

• Dental issues: FAP can sometimes cause problems with teeth, such as extra teeth or teeth that don't come in properly.

• Low red blood cell count (anemia): In some cases, FAP can lead to a lower-than-normal number of red blood cells in the blood.

It's important to note that while these complications are possible, they are not guaranteed. People with FAP should work closely with their doctors to monitor their health and receive appropriate treatment if any of these issues arise.

Familial adenomatous polyposis (FAP) is a genetic condition passed down through families. This means you can't prevent getting it if you inherit the genes. However, if someone in your family has FAP, you or your children might be at risk. In this case, genetic testing and counseling are important. These tests can tell you if you carry the genes for FAP and help you understand your risk and what it means for your health.

If you are diagnosed with FAP, regular checkups are crucial. These checkups will involve monitoring for the development of polyps (small growths) in the colon. If polyps are found, surgery may be necessary. Surgical removal of these polyps can significantly reduce the chance of developing colorectal cancer, a serious disease. Surgery can also prevent other problems that might arise from the condition.

Familial adenomatous polyposis (FAP) is a condition where non-cancerous growths called polyps develop in the colon and rectum. If a parent, child, sibling, or other close relative has FAP, you have a higher chance of developing it. Early detection is key, especially since these polyps can turn cancerous if left untreated.

Regular checkups are crucial for those at risk. These screenings can find polyps before they become a problem. Here's how they work:

• Sigmoidoscopy: A thin, flexible tube is inserted into your rectum to examine the rectum and the last few feet of your colon (the sigmoid). If you have a family history of FAP or haven't had genetic testing, your doctor might recommend this yearly, starting around ages 10 or 12.

• Colonoscopy: A similar tube is used to examine your entire colon. If polyps are found, you'll likely need a colonoscopy every year until your colon is removed through surgery.

• Esophagogastroduodenoscopy (EGD) and side-viewing duodenoscopy: These procedures use different types of tubes to examine your esophagus, stomach, and the first part of your small intestine (duodenum). Sometimes, a small tissue sample (biopsy) is taken for further testing.

• CT or MRI scans: These imaging tests can be used to check your abdomen and pelvis, especially to look for desmoid tumors, another type of growth that can be associated with FAP.

A simple blood test can identify the abnormal gene linked to FAP. Genetic testing can also help determine if you might experience other health problems related to FAP. Your doctor might suggest genetic testing if:

• You have family members with FAP.
• You have some but not all the symptoms of FAP.

Finding out if you have FAP is important. If you don't have it, you avoid unnecessary screening tests and worry. If you do have the gene, early and regular screening, along with appropriate treatment, significantly lowers your risk of developing colon cancer.

Your doctor might also recommend checks for other health problems that can be connected with FAP, such as thyroid issues.