Familial adenomatous polyposis (FAP)

Familial adenomatous polyposis (FAP) is a rare condition that can run in families. It can also affect people who don’t have a family history of it. FAP causes hundreds or thousands of small growths called polyps to grow in the large bowel. If these polyps aren’t treated, some of them are likely to develop into cancer.

If you have a family history of FAP, you will have regular tests for it from a young age. This is likely to include a procedure called a colonoscopy and may include genetic testing to look for the FAP gene. If you have no family history, you may have bowel symptoms that lead to diagnosis. Talk to your GP if you’re worried about any symptoms you’ve noticed. 

With early treatment, people with FAP can avoid bowel cancer and lead healthy lives. Treatment usually involves surgery to remove part or all of the large bowel. As a result, you may need a stoma (an opening in your stomach to allow you to pass bowel motions).

Having FAP, and needing surgery for it, can be distressing. There is lots of support available for you.

What is familial adenomatous polyposis (FAP)

FAP is a rare 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 large bowel. These polyps are sometimes called adenomas. This is where the ‘adenomatous’ part of the name FAP comes from. 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. 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 large bowel when they're young. This can be hard to cope with, but it means they can avoid getting bowel cancer.

The bowel
The bowel

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The large bowel

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

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 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.


How FAP is inherited

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.


Symptoms of FAP

If you have a parent, brother or sister with FAP, you'll have regular tests to check for it from a young age (12 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, 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.


Diagnosis of FAP

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, such as the changes it can cause to the back of the eye.


Genetic testing

It's possible to find out if a person has the altered FAP gene by doing a genetic blood 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, bowel screening can be stopped. If you haven't inherited the altered gene, your risk of getting bowel cancer is the same as someone without FAP.

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.


Screening for FAP

If someone in the family has FAP, their close family (children, sisters, brothers) will be offered screening. This can start from the age of 12 onwards. If genetic testing detects FAP, you will have 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 15 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.


Having a colonoscopy

A colonoscopy is a way of examining the lining of the bowel from the inside. The procedure is usually done in the hospital outpatient department and takes about an hour. It's the most thorough and effective way of diagnosing bowel cancer. The colonoscopy can also see if there are any polyps in your bowel.

The bowel has to be completely empty for a colonoscopy. This means following a careful diet for a few days before your test. You'll also need to take laxatives, which the screening centre or hospital pharmacy will provide. The department carrying out your colonoscopy will give you instructions about your diet, and about exactly when to take your laxatives.

Shortly before the colonoscopy, you may be given a sedative to help you feel relaxed. Once you're lying comfortably on your side, the nurse or doctor will gently pass a thin flexible tube (a colonoscope) into your back passage. The tube is made up of flexible fibres so it can easily pass around the curves of the bowel. A tiny light and camera on the end of the tube are used to show any abnormal areas.

During the colonoscopy, photographs and samples (biopsies) of the cells on the inside of the large bowel can be taken. Most polyps can be painlessly removed using a wire loop that is passed down the colonoscope. A colonoscopy can be uncomfortable, but the sedative will help you feel more relaxed.

Most people are ready to go home a couple of hours after their test. You'll need to arrange for someone to collect you from the hospital as you shouldn't drive for several hours after a sedative. You should also have someone with you for about 12 hours afterwards.

Sometimes it's not possible to see the whole bowel during a colonoscopy. This can happen if the bowel isn't completely empty or if the colonoscope can't pass round a bend in the bowel to reach the end. If this happens, you may be asked to have another colonoscopy, or a CT colonogram.


Treatment for FAP

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.

Surgery

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.

Videos and information you might find helpful

Video - Having a stoma: A clinical nurse specialist in stoma care talks about having surgery for rectal cancer and living with a stoma.]

Video - Pat's story: Pat talks about her experiences of living with a stoma after surgery for rectal cancer.]

Pre-implantation genetic diagnosis (PGD)

This is a specialised technique that can help couples affected by FAP to have a child who doesn't have the FAP gene. Some people may want to consider this when planning their family.

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.


Your feelings

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. We have more information about the emotional effects of cancer.

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.


Useful organisations

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.

PolyPeople

PolyPeople is a support group for people with polyposis syndromes.

The Polyposis Registry

The Polyposis Registry is a helpline for anyone with a polyposis syndrome – you do not have to be one of their patients. Based at St Mark’s Hospital, Harrow.

T: 020 8235 4270

E: nwlh-tr.polyposisregistry@nhs.net

Twitter: @PolyposisRegUK

In addition to these, we have a list of organisations that may be able to offer you support and information. Our database lists useful organisations that provide both practical and emotional support, including information on health, benefits and financial help.


Back to Genetic testing and counselling

Inherited cancers

If a cancer occurs more often in a family than in the general population, some people in the family may have inherited a cancer susceptibility gene.

Lynch syndrome

Lynch syndrome (LS) is a condition that can run in families. It increases the risk of bowel, womb and some other cancers.

Genetic counselling

A genetic consultation is a discussion with a person trained in genetics. They will advise you on your risk of developing cancer.

Genetic testing

You will only be offered genetic testing if your family history suggests you may have inherited an identified faulty gene.

OPERA tool

OPERA is an online information tool for people concerned about their inherited risk of breast and/or ovarian cancer.