Introduction

Cystic fibrosis is an inherited condition in which the lungs and digestive system become clogged with thick sticky mucus.

It can cause problems with breathing and digestion from a young age. Over many years, the lungs become increasingly damaged and may eventually stop working properly.

Most cases of cystic fibrosis in the UK are now identified through screening tests carried out soon after birth. It's estimated that 1 in every 2,500 babies born in the UK has cystic fibrosis.

A number of treatments are available to help reduce the problems caused by the condition, but unfortunately average life expectancy is reduced for people who have it.

Symptoms of cystic fibrosis

Symptoms of cystic fibrosis tend to start in early childhood, although they can sometimes develop very soon after birth, or may not be obvious until adulthood.

Some of the main symptoms of cystic fibrosis can include:

  • diarrhoea
  • frequent, wet-sounding coughs
  • recurring chest infections
  • difficulty putting on weight
  • occasional wheezing and shortness of breath

People with the condition can also develop a number of related conditions, including diabetes, thin, weakened bones (osteoporosis) and liver problems.

Read more about the symptoms of cystic fibrosis.

Causes of cystic fibrosis

Cystic fibrosis is caused by a faulty gene that a child inherits from both of their parents.

The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways.

To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene - one from each of their parents. Their parents will not usually have the condition themselves, because they will only carry one faulty gene and one that works normally.

If both parents carry the faulty gene, there's a 25% chance that each child they have will be born with cystic fibrosis.

Read more about the causes of cystic fibrosis.

Screening and testing for cystic fibrosis

Most cases of cystic fibrosis are now detected soon after birth through the newborn blood spot test.

This involves collecting a drop of blood from the baby's heel and testing for abnormalities that could indicate cystic fibrosis.

More tests will be needed to confirm the diagnosis, such as:

  • a sweat test - to measure the amount of salt in sweat, as the sweat of someone with cystic fibrosis has higher levels of salt than normal
  • a genetic test - where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

These tests can also be carried out in older children and adults with symptoms of cystic fibrosis who haven't been screened previously.

If you have a family history of cystic fibrosis, you can be tested to determine if you're at risk of having a child with the condition by checking if you're a "carrier" of the faulty gene that causes it.

Treatments for cystic fibrosis

There is currently no cure for cystic fibrosis, but a number of treatments are available to help control the symptoms, prevent complications, and make the condition easier to love with.

Possible treatments include:

  • antibiotics to prevent and treat chest infections
  • medicines to make the mucus in the lungs thinner and easier to cough up
  • medicines to widen the airways and reduce inflammation
  • special techniques and devices to help clear mucus from the lungs
  • medicines that help the person absorb food better
  • following a special diet and taking supplements to prevent malnutrition

A lung transplant may eventually be required if the lungs become greatly damaged.

Read more about treating cystic fibrosis.

Outlook for cystic fibrosis

Cystic fibrosis is a progressive condition, which means it tends to get worse over time.

Eventually the condition can be fatal if it leads to a serious infection or the lungs stop working properly.

The outlook for cystic fibrosis has improved considerably in recent years due to advancements in treatment, although most people with cystic fibrosis will have a shorter than average life expectancy.

Currently, about half of the people with cystic fibrosis will live past the age of 40. Children born with the condition nowadays are likely to live longer than this.

The Cystic Fibrosis Trust

The UK’s leading charity for people affected by cystic fibrosis is the Cystic Fibrosis Trust.

Their website contains a range of useful information, an online forum and news items about ongoing research into cystic fibrosis.

The charity also operates a helpline: 0300 373 1000; which is available from 9am and 5pm, Monday to Friday.

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Symptoms

Cystic fibrosis can cause a range of problems. The lungs and digestive system are the main areas that are affected.

Symptoms tend to start in early childhood, but sometimes they can develop soon after birth and very occasionally they may not be obvious until adulthood.

Nowadays, cystic fibrosis is usually diagnosed before symptoms appear, through screening tests carried out soon after birth. Read more about screening for cystic fibrosis.

The main problems associated with cystic fibrosis are outlined below.

Lung problems

Cystic fibrosis can cause sticky mucus to clog the lungs and airways. This can cause:

  • recurring chest infections - these occur because mucus in the lungs is an ideal breeding ground for bacteria
  • persistent inflammation of the airways, which can cause them to become abnormally widened (bronchiectasis)
  • increased coughing
  • occassional wheezing and shortness of breath

Over time, the lungs can become increasingly damaged and may eventually stop working properly.

Digestive system problems

The mucus can also block parts of the digestive system, which can affect how food travels through the gut and how it's broken down or absorbed.

This can cause:

  • a serious bowel obstruction in the first few days of life (meconium ileus) - this will often need an operation to remove the blockage
  • jaundice
  • diarrhoea or large, smelly stools
  • problems putting on weight and growing - this can occur because the body struggles to digest and absorb nutrients (malnutrition)
  • diabetes from late childhood or early adulthood - this can develop if the pancreas becomes severely damaged

Other problems

People with cystic fibrosis can also experience a number of other problems, including:

  • sinusitis
  • nasal polyps
  • thin, weakened bones (osteoporosis) - this can occur as a result of repeated infections, poor growth, lack of physical activity and malnutrition
  • swelling and pain in the joints (arthritis or arthralgia) from late childhood
  • difficulty conceiving children - most men with cystic fibrosis are unable to have children naturally (although some fertility treatments may still work) because the tubes that carry sperm don't develop correctly; however, women can become pregnant
  • liver problems caused by tiny bile ducts in the liver becoming blocked by mucus
  • leaking of small amounts of urine, particularly during coughing fits (stress incontinence)
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Causes

Cystic fibrosis is caused by a faulty gene that a child inherits from both their parents.

The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways - particularly the lungs and digestive system.

The condition is present from birth and cannot be caught from someone else who has it.

How cystic fibrosis is inherited

Genes come in pairs. You inherit one set of genes from your mother and one set from your father.

To be born with cystic fibrosis, a child has to inherit a copy of the faulty gene from both of their parents.

This can happen if the parents are "carriers" of the faulty gene. This means they don't have cystic fibrosis themselves, but they can have a child with the condition if their partner also carries the faulty gene.

It's estimated that around one in every 25 people in the UK are carriers of the faulty gene that causes cystic fibrosis.

If both parents are carriers, there is a:

  • 25% chance that each child they have will not inherit any faulty genes and won't have cystic fibrosis or be able to pass it on
  • 50% chance that each child they have will just inherit one copy of the faulty gene from one parent and be a carrier
  • 25% chance that each child they have will inherit copies of the faulty gene from both parents and will have cystic fibrosis.
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Diagnosis

Tests can be carried out to diagnose cystic fibrosis at any age.

Most cases are now detected soon after birth through newborn screening, but older children and adults with symptoms of cystic fibrosis who weren't screened can also have tests to check for the condition.

Tests to find out if you are a "carrier" of the faulty gene responsible for cystic fibrosis may also be recommended for some people.

Newborn screening

A newborn blood spot test is now offered to all babies in Wales to help detect problems early on, including cystic fibrosis.

When the baby is five to eight days old, a health professional will prick their heel and collect drops of blood on a special card. The blood is then sent to a laboratory to be checked for abnormalities that could indicate cystic fibrosis.

You should receive the results by the time your baby is six to eight weeks old. You will be contacted sooner if a problem is found, and you'll be asked to attend a hospital appointment.

The screening result isn't 100% accurate, so more tests will be carried out to confirm the diagnosis. You, your partner and any other children you have may also be tested to see if you carry the faulty gene that causes cystic fibrosis (see below).

Confirming a diagnosis

Tests to confirm a diagnosis will be carried out if screening suggests that your child may have cystic fibrosis, or your doctor thinks you could have the condition and you haven't been screened previously.

Two main tests can be used to diagnose cystic fibrosis:

  • sweat test - a test to measure the amount of salt in sweat, as the sweat of someone with cystic fibrosis has higher levels of salt than normal
  • genetic test - where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

The sweat test is most commonly used, although genetic testing may be done if the sweat test result is inconclusive or to identify the specific genetic fault that's causing the condition.

Carrier testing

Testing to find out if you carry the faulty gene that causes cystic fibrosis may be useful if:

  • you have a close relative, such as a child, sibling or parent, who's a known carrier
  • you have a close relative with cystic fibrosis
  • your partner is known to carry the cystic fibrosis gene

This can be done using a blood test, or occasionally a special mouthwash, to collect a sample of cells. The sample is then sent to a laboratory so it can be checked for the faulty gene.

Finding out whether you're a carrier of the faulty gene can help determine if you're at risk of having a child with cystic fibrosis.

Help after diagnosis

If you or your child is diagnosed with cystic fibrosis, it can be extremely difficult to deal with.

You'll be supported by a number of health professionals with specialist knowledge of cystic fibrosis, who can answer any questions you have.

You may also find it useful to call the Cystic Fibrosis Trust on 0300 373 1000 for information and to order their new parent pack.

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Treatment

There's currently no cure for cystic fibrosis, but it's possible to help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

A person with cystic fibrosis will be supported by a team of healthcare professionals at a specialist cystic fibrosis centre. A care plan will be drawn up that's tailored to their individual needs.

A range of treatments may be used and sometimes treatment in hospital will be needed. Regular appointments to monitor the condition will also be recommended.

Medication for lung problems

People with cystic fibrosis may need to take a number of different medicines to treat and prevent lung problems. These may be swallowed, inhaled or injected.

Some of the main medicines for cystic fibrosis are:

  • antibiotics to prevent and treat chest infections
  • medicines to make the sticky mucus in the lungs thinner, such as dornase alfa, hypertonic saline and mannitol dry powder
  • a medicine called ivacaftor to help reduce the levels of mucus in the body - although this is only suitable for fewer than 1 in every 20 people (4%) with cystic fibrosis
  • bronchodilators to widen the airways and help make breathing easier
  • steroid medication to treat nasal polyps (small growths inside the nose)

Airway clearance techniques

In addition to medication, special techniques can be used to help keep the lungs and airways clear. A physiotherapist can give you advice.

Some of the main techniques include:

  • active cycle of breathing techniques (ACBT) - a technique that involves a sequence of relaxed breathing, followed by deep breathing exercises and then huffing
  • autogenic drainage - a series of gentle breathing techniques that clear mucus from the lungs
  • modified postural drainage - a technique that involves changing your position to make it easier to remove mucus from your lungs
  • airway clearance devices - handheld devices that use vibration and air pressure to help remove mucus from your airways; you may have to pay in the region of £45-60 for one of these devices

Your care team can provide more information on the techniques mentioned above. The Cystic Fibrosis Trust also has information on airway clearance techniques.

Dietary and nutritional advice

For people with cystic fibrosis, getting the right nutrition is vital in helping them develop normally and stopping them becoming frequently ill.

However, the majority of people with cystic fibrosis cannot digest good and absorb nutrients from when they're a baby. Occasionally, the condition can cause the pancreas to become damaged over time, causing the same problem.

A dietitian will advise on what you can do to help avoid malnutrition. They may recommend:

  • taking digestive enzyme capsules with all meals and snacks to help with digestion - the number of capsules needed depends on the food being eaten and varies from person to person
  • following a special balanced diet that's high in calories (energy), fat and protein
  • taking vitamin and mineral supplements

The Cystic Fibrosis Trusy has information on eating well with cystic fibrosis. It also has various factsheets, including nutrition advice for adults and children.

Lung transplants

In severe cases of cystic fibrosis, when the lungs stop working properly and all medical treatments have failed to help, a lung transplant may be recommended.

A lung transplant is a serious operation that carries risks, but it can greatly improve the length and quality of life for people with severe cystic fibrosis.

The outlook for people with cystic fibrosis is often better than for many transplant patients as they are often younger and in better general health. It is estimated that up to nine out of 10 people will survive for at least a year after a transplant.

Read the Cystic Fibrosis Trust factsheet on lung transplantation (PDF, 341kb).

Treatments for associated problems

People with cystic fibrosis can have a number of other problems that may benefit from treatment.

For example:

  • exercise can help keep bones and joints healthy, and is recommended for everyone with cystic fibrosis - any sport or exercise is usually good, but if you're not sure about a particular activity, you should ask your physiotherapist for advice
  • medicines called bisphosphonates can help treat weak and brittle bones that may occur as a result of cystic fibrosis if the person doesn't get enough vitamin D and calcium (from their diet and/or from supplements)
  • insulin medication and a special diet may help someone with diabetes caused by cystic fibrosis control their blood sugar levels
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The information on this page has been adapted by NHS Wales from original content supplied by NHS Choices.
Last Updated: 08/04/2016 16:01:01