Familial adenomatous polyposis (FAP)
This information is about familial adenomatous polyposis, which is called FAP for short. FAP is a condition that can run in families.
If FAP isn't treated, it increases a person's chances of getting bowel cancer. With early treatment, people with FAP can avoid bowel cancer and lead healthy lives.We hope this information answers your questions. If you have any further questions, you can ask your doctor or nurse at the hospital where you’re having your treatment.
FAP is a condition that can run in families. Conditions that run in families are referred to as inherited or familial. People with FAP are very likely to develop bowel cancer if they don't have treatment. About 1 in every 100 of all bowel cancers is linked to FAP.
People with FAP have hundreds or thousands of small growths called polyps in their bowel. These polyps are also sometimes called adenomas. This is where the ‘adenomatous’ part of FAP comes from, and polyposis means lots of polyps.
FAP can also affect people who don't have a family history of it. This happens in about 1 in 3 people with FAP.
The polyps usually start to appear when a person is in their teens, and if the polyps aren't treated, one or more of them will almost certainly develop into cancer (usually by the age of 40). There's a type of FAP called attenuated FAP where the polyps appear about ten years later than with the usual FAP.
Most people with FAP are offered the option of having an operation to remove the bowel when they're young. This can be hard to cope with, but it means a person can avoid getting bowel cancer.
The bowel is part of our digestive system. It's divided into two parts - the small bowel and the large bowel. The large bowel is made up of the colon and rectum.
The food we eat passes from the stomach, where it's digested, into the small bowel. The small bowel is where our bodies absorb the essential things we need from our food. The digested food then moves into the large bowel where water is absorbed and waste or stools are formed.
The first part of the large bowel that runs upward is called the ascending colon. It then goes across to the left side of the abdomen (the transverse colon) and down to the bottom of the abdomen (the descending colon). It ends with the sigmoid colon, the rectum and then the anus.
FAP and other parts of the body
Back to top
FAP can affect other parts of the body. Most people have some harmless changes, such as black dots, to the back of the eye (retina). These black dots don't affect your vision at all and often help to diagnose FAP.
Some people get harmless lumps that affect the bones, or cysts on the skin.
You can also get polyps in the stomach. These are usually harmless, but they will need to be checked regularly. FAP also, very slightly, increases the risk of getting cancer in other parts of the body (small bowel, thyroid, adrenal gland and pancreas). The risk is greater for small bowel (duodenum) cancer, but it's still very low. You may have regular tests to check for this.
People with FAP also have a higher risk of developing a rare tumour called a desmoid tumour. This develops and grows in the fibrous tissue that covers muscle and other organs. It's not a cancer and doesn't spread to other parts of the body.
FAP is caused by a fault in a gene called the APC gene. Our genes carry the information that's passed on (inherited) from our parents. They decide things like the colour of our eyes and affect the way our bodies grow, work and look.
We have two copies of each gene - one from each of our parents. If someone has FAP, it means they have one healthy APC gene and one altered (faulty) one.
If that person has a child, there's a 50% chance that they'll pass on the altered gene (as only one copy of a gene is passed on from each parent). If a child inherits the altered gene, they'll develop FAP.
In about 1 in 3 people with FAP, an altered APC gene occurs without a family history of FAP. Their children will also have a 50% chance of inheriting the altered gene.
If you have a parent, brother or sister with FAP, you'll have regular tests to check for it from a young age (10 onwards). But as FAP can also happen without any history of it in the family, the first sign of it may be bowel symptoms.
People can have hundreds of polyps in their bowel without any symptoms. If these polyps go untreated then symptoms may eventually appear. In some people there are no symptoms until a polyp has changed into a cancer.
Some of the symptoms of FAP and bowel cancer are:
blood or mucus in the stools, or bleeding from the back passage
diarrhoea or constipation (a change in the normal bowel habit that lasts longer than six weeks)
pain in the tummy (abdomen) or back passage
weight loss for no obvious reason.
These symptoms can be caused by conditions other than FAP or bowel cancer. It's always important to get them checked out by your doctor.
Children and teenagers may be diagnosed with FAP because they've been having regular tests to check for it (if they have a parent with FAP). Tests to look inside the bowel are carried out every year. People who have FAP in the family are usually diagnosed by a colonoscopy (a test to look at the inside of the bowel).
As well as testing for polyps, doctors look for other signs of FAP, like the changes it can cause to the back of the eye.
A colonoscopy is usually done in the hospital outpatient department and takes about an hour. Your bowel has to be completely empty for the test, which means you'll have to follow a low-bulk diet for a few days before it. On the day before your test, you'll be asked to take a medicine (a laxative) to empty your bowel. You'll be given instructions about this by your hospital.
Just before the test, you'll be given a drug to help you feel more relaxed (sedative). This may be given as an injection into a vein (intravenously).
Once you're lying comfortably on your side, the doctor or nurse will gently pass a flexible tube (a colonoscope) into your back passage. A colonoscope is a long, thin, flexible tube that has a tiny light and a camera on the end of it. It can easily pass around curves, so most of the large bowel can be examined. During the test, photographs and samples of tissue (biopsies) can be taken. If there are hundreds of polyps lining the bowel, it's likely that you have FAP.
Afterwards, you'll need somebody to take you home and stay with you for 24 hours until the effects of the sedative wear off. It's important not to drive during this time.
It's possible to find out if a person has the altered FAP gene by doing a genetic test.
The test is carried out first on a member of the family who has FAP. When their altered gene has been found, other family members can then be tested to find out if they have the same altered gene. If the genetic test shows that you don’t have the altered gene then bowel screening can be stopped. If you haven't inherited the altered gene, your risk of getting bowel cancer is the same as anyone else's.
Sometimes the altered gene can't be found in a person who has FAP. This means that their close family cannot be tested, but they will still have regular bowel checks (screening).
Before genetic testing, you'll be offered counselling. This will help you understand the results and what they mean for you and your family.
If someone in the family has FAP, then their close family (children, sisters, brothers) will be offered screening. This can start from the age of 10 onwards. It means having a colonoscopy every year to check the lining of the bowel for polyps. If you have the altered gene for FAP, it's likely the polyps will appear before you are 20. Doctors will also be looking out for any signs of FAP affecting other parts of the body.
Screening can stop if genetic testing shows that you don't have a copy of the altered gene. Otherwise, it's very important to carry on with your yearly bowel checks.
When a person has been diagnosed with FAP, they'll carry on having bowel tests until surgery is needed. They may also have tests (usually every one to two years) to check the small bowel (duodenum) and the stomach. This is because there's still a risk of polyps developing in these areas.
People with a type of FAP called attenuated FAP will have regular tests (screening) for longer. They have fewer polyps and so bowel cancer usually develops later. They may therefore be screened for a longer time before deciding to have surgery.
It's very important to carry on having all your tests until you have made a decision about surgery. Your surgeon will talk to you about which operation would be best for you.
If the person is very young or the polyps look harmless, regular bowel checks may continue for a while. When there are lots of polyps in the bowel, it's impossible to know when one might become a cancer. An operation is the safest way to treat FAP and prevent bowel cancer.
Removing the colon It may be possible to remove the colon and join the small bowel to the top of the rectum. This is called an ileo-rectal anastomosis (IRA). You'll be able to go to the toilet normally but will need to go more often than before. There's still a risk that polyps may develop in the rectum so you will need a test to check this every year.
Removing the colon and the rectum
Sometimes the lining of the rectum is removed to avoid the risk of polyps forming there. If the rectum is removed, a pouch to replace it can be made using a piece of the small bowel. This is a complex operation. After the surgery you'll be able to go to the toilet normally but you will need to go more often than before. You might need to take anti-diarrhoea medicine. Tests on the rectum won't be needed because the lining (where polyps grow) will have been removed
Having a stoma
Some people will need to have the rectum removed. The end of the small bowel is brought out on to the skin of the tummy (abdomen). The opening is called a stoma and a bag is worn over it to collect bowel motions. It can take a while to get used to having a stoma. There are specialist nurses (stoma nurses) who can help and support you through this.
Having surgery for FAP can be very distressing. But it's the best way to stop you from getting bowel cancer.
Preimplantation genetic diagnosis (PGD)
Back to top
Some people may want to consider this when planning their family. It’s a specialised technique that can help couples affected by FAP to have a child who doesn't have the FAP gene.
PGD involves checking the genes of embryos (fertilised eggs) that have been made by IVF (in vitro fertilisation) treatment. A single cell is taken from each embryo and is checked for the altered gene that causes FAP. Only embryos that are unaffected by the gene are then implanted in the womb, and if a baby develops from the embryo it should not have FAP.
There are many things to be taken into consideration if you're thinking about having PGD. For example, very occasionally, testing may miss the altered FAP gene, or sometimes embryos may be damaged in the process. PGD isn't suitable for everyone. There are also risks associated with the IVF process itself. It's important to discuss these risks in detail with your genetic counsellor or geneticist, or a specialist at a fertility clinic.
Having FAP or being at risk of it can be very difficult to cope with. There's the uncertainty of not knowing whether FAP could develop into cancer. There are often complicated decisions to be made about the right time to have surgery. Some people choose to have screening for longer because they find the thought of an operation very difficult. Others may choose to have surgery earlier because they find waiting for each screening hard. Talk to your doctor or nurse about any concerns you have.
FAP may affect you at a time when you're already coping with changes like puberty. It's often at a time when you're trying to become more independent. All these things can cause different issues and affect your relationships.
You may have many different emotions including anger, resentment, guilt, anxiety and fear. These are all normal reactions, and are part of the process many people go through in trying to come to terms with their condition.
Everyone has their own way of coping with difficult situations. Some people find it helpful to talk to family or friends, while others prefer to seek help from people outside their situation. Some people prefer to keep their feelings to themselves. There is no right or wrong way to cope, but help is there if you need it. Our cancer support specialists can give you information about counselling in your area.
Familial Adenomatous Polyposis Support Group
Tel 0121 627 2630
A telephone support group for anyone affected by FAP. Urdu and Punjabi is spoken.
IA (the ileostomy and internal pouch support group)
IA gives support and information for anyone who has had their colon removed.
FAP Gene Support Group
FAP Gene Support Group gives information about FAP.
This information has been compiled using information from a number of reliable sources, including:
Balmana J, et al. Familial colorectal cancer risk: ESMO Clinical Practice Guidelines. Annals of oncology. 2010.
DynaMed. DynaMed summary: Familial adenomatous polyposis. June 2012. www.dynamed.ebscohost.com (accessed Oct 2012).
P Bonis, et al. Familial adenomatous polyposis and MUTYH associated polyposis: screening and management of patients and families. June 2012. www.uptodate.com (accessed Oct 2012).
D Ahnen, L Axell. Clinical features and diagnosis of familial ademomatous polyposis. August 2010. www.uptodate.com (accessed Oct 2012).
With thanks to Ms Oonagh Claber, and the people affected by cancer who reviewed this edition. Reviewing information is just one of the ways you could help when you join our Cancer Voices network.