Cystic fibrosis (CF)

Cystic fibrosis is a condition that affects the balance of salt and water in some parts of the body. This causes thick sticky mucus to build up in the lungs and in other parts of the body, including the digestive system.

Cystic fibrosis is an inherited condition, which means it’s passed down to you in your parents' genes.  It’s caused by a faulty gene and is one of the most common genetic conditions.   

It’s mainly diagnosed at birth and about 1 in 2,500 babies born in the UK has cystic fibrosis. 

Cystic fibrosis counts as a disability

Cystic fibrosis is a disability under the Equality Act 2010. This means you have legal rights and cannot be discriminated against because of your condition.

A child can inherit cystic fibrosis if both of their parents are carriers of the faulty gene.

If both parents are carriers, there is a:

• 1 in 4 chance they will pass cystic fibrosis on to their child
• 1 in 4 chance their child will not have cystic fibrosis and won’t be a carrier
• 2 in 4 chance their child will be a carrier. This happens when your baby inherits just one copy of the gene.

Cystic Fibrosis Trust has more information about how cystic fibrosis is inherited.

Cystic fibrosis causes thick mucus to build up in the respiratory and digestive systems. This means people often get lung infections and problems with digestion.

Common symptoms in the lungs include:

• coughing with mucus (phlegm)
• wheezing and shortness of breath
• chest or sinus infections
• repeated lung infections.

Common symptoms in the digestive system include:

• constipation (being unable to poo). Around 1 in 7 newborn babies may have serious constipation in the first few days of life – this is known as meconium ileus.
• stomach pain and feeling bloated
• large, greasy and sticky poo.

Other signs and symptoms:

• children not growing as expected
• adults losing weight without trying to
• very salty sweat, which can leave salt crystals on your skin
• swollen fingertips and rounder nails.

A routine of medicines, physiotherapy, and exercises every day can help keep symptoms under control.

The newborn screening test includes screening for cystic fibrosis. This means most children and young adults with cystic fibrosis are diagnosed at or soon after birth. But it’s possible to be diagnosed as an older child or young adult, or even as an older adult.

Some people only find out they have cystic fibrosis as an adult because they’ve had a baby with the condition.

Since newborn screening was introduced in 2007, it’s less common to be diagnosed later in life.

Someone diagnosed with cystic fibrosis as an adult may not have been diagnosed earlier because:

• they were born before 2007 when newborn screening started
• they have a rare variant (a change to the gene) of the faulty cystic fibrosis gene, which may be harder to diagnose
• their symptoms were similar to other lung conditions like asthma or bronchiectasis, which made diagnosis harder

Cystic Fibrosis Trust has advice and information for anyone diagnosed with CF later in life, and a factsheet you can download.

What tests are used to diagnose cystic fibrosis?

The main tests used to diagnose or rule out cystic fibrosis are:

• the newborn blood spot screening test
• the sweat test
• genetic testing.

Rarely, cystic fibrosis is diagnosed based on signs and symptoms, even if sweat and gene tests come back normal.

Blood spot screening test for newborns

This test is done when your baby is five days old. It's sometimes called the heel prick test because a small sample of blood is taken from your baby’s heel.

The blood is sent to a lab where it’s tested for a number of conditions, including cystic fibrosis.

Your baby may have a positive test result, even if they don’t have any symptoms. If the blood spot test shows your baby could have cystic fibrosis, another test called a sweat test can help confirm or rule out a diagnosis.

Sweat test

People with cystic fibrosis have more salt in their sweat than other people.

A sweat test measures how much salt there is in your sweat. It’s used to confirm or rule out a diagnosis in newborn babies where cystic fibrosis is suspected after the heel prick test.

Sweat tests can also be used to confirm or rule out cystic fibrosis in older children and adults who were not tested at birth.

Doctors collect a small amount of sweat from your arm or upper leg. Special pads or gels are put on your skin to make it sweat. The test takes about 30 minutes.

A sweat test is a simple, safe test. Your skin may be a bit red afterwards.

You should get the results back in a few days. If results are not clear you may need to do the test again.

Genetic testing

Your doctor may refer you for genetic testing. This tests a sample of your blood or saliva (spit).

Genetic testing is sometimes used to diagnose cystic fibrosis in older children and adults who were not tested at birth.

If your baby is diagnosed with cystic fibrosis, genetic testing can show if their brothers or sisters also have the condition, or if they're carriers.

You may also be offered genetic testing to see if you're a carrier of the faulty gene.

What support will I get after a diagnosis?

If you’ve had a diagnosis of cystic fibrosis, or you’re a parent caring for a baby or child with cystic fibrosis, you’ll have support from a team of specialists. 

They can answer all your questions and explain what you or your child need to do to stay well, and what treatments can help.

You should get support from:

• paediatricians or adult physicians
• nurses
• physiotherapists
• dietitians
• pharmacists
• clinical psychologists.

The team may also include a social worker. This is someone who can give advice and support about education, employment and benefits, as well as adjusting to long-term treatment.

The specialist team can make sure you have a contact number for urgent advice and support day and night.

The best way to keep cystic fibrosis symptoms under control is to have a daily routine of medicines, exercise and physiotherapy.

There are a range of different treatments and therapies including:

• physiotherapy and airway clearance
• mucoactive agents
• CTFR modulator medicines
• antibiotics
• pancreatic enzyme replacement therapy (PERT)
• steroids
• lung transplant.

These treatments aim to reduce symptoms and lower the risk of complications. Not everyone with cystic fibrosis will need all these treatments.

Physiotherapy and airway clearance

Airway clearance techniques can help loosen the mucus in your lungs so it can be coughed up more easily. These techniques can lower your risk of lung infections and improve lung function. You may need to do them every day. This can be tiring and take up time in your day.

A specialist physiotherapist can show you what techniques to use, and how to use them safely.

Cystic Fibrosis Trust has more information about different airways clearance techniques, and other ways physiotherapy can help if you have cystic fibrosis.

Mucoactive agents

When sticky mucus builds up in your lungs, you’re more likely to get infections. Mucoactive agents are drugs that help clear mucus from your airways.

CTFR modulators

CFTR modulators target certain gene mutations. Whereas other types of medicines treat the symptoms of cystic fibrosis, modulator medicines prevent symptoms by correcting the gene variants directly.

CTFR modulators have been shown to:

• improve lung function
• reduce levels of salt in sweat
• slow the decline in lung function.

There are currently five available on the NHS. Cystic Fibrosis Trust has more information about these.

Antibiotics

Cystic fibrosis can mean you’re more at risk of infections. Sometimes you’ll need treatment with antibiotics. If you have an ongoing infection, you may need long-term antibiotics.

Cystic Fibrosis Trust has more information about the most common infections, and how antibiotics help.

Pancreatic enzyme replacement therapy (PERT)

Cystic fibrosis can sometimes stop the pancreas from working properly. The pancreas produces enzymes to help digest food. Cystic fibrosis can stop these enzymes from reaching the gut.

Enzyme supplements can help people with cystic fibrosis to digest food. This is known as pancreatic enzyme replacement therapy.

Steroids

Steroids are sometimes prescribed to people with cystic fibrosis.  They can help to reduce inflammation in the airways. They can be given through an inhaler or taken as steroid tablets.

Lung transplant

Some people with cystic fibrosis may eventually need a lung transplant. This will only be considered if they are very unwell and their treatments are no longer working.  

It is very unlikely that  children with cystic fibrosis will need a lung transplant. This is thanks to new modulator drugs which have made a big difference to how cystic fibrosis is treated, and improved outcomes. You can read more about transplants on Cystic Fibrosis Trust’s website.

Your specialist team can support you with emotional and specialist psychological support when waiting to have a lung transplant.

Find out more about treatments for cystic fibrosis from Cystic Fibrosis Trust.

There’s lots of ways you can help yourself stay as healthy as possible, including eating well, keeping active, quitting smoking, and looking after your mental wellbeing.

Get support from your specialist team

Your specialist team is there to help you. They can answer any questions you have about:

• school, education and careers
• living independently
• travel
• planning a family.

Make the most of your routine reviews to talk about your goals, and what advice you need to live your life well.

Nutrition and diet

Because of extra mucus in the gut, it’s harder for people with cystic fibrosis to get nutrients from food.

A dietician in your specialist team can give you advice about how to keep to a healthy weight.

You may need to increase the size of your meals, eat higher energy foods or take nutritional supplements.

Keeping active

Keeping active helps your lungs work better and can make airway clearance techniques easier to do. Physical activity is also good for your mood and sense of wellbeing.

Looking after your mental wellbeing

Cystic fibrosis can be challenging and there may be times when you feel you need extra support.

You should be offered a psychological assessment at your annual review. You can also ask for emotional or psychological support if you need it. The clinical psychologist in your team can refer you for mental health support. They can also support your family and any carers.

Talking to others going through the same thing can be a great help. You can connect with other people with cystic fibrosis online to avoid the risk of cross infection.

If you’re caring for a child with cystic fibrosis, your specialist team is there to support you. Treatments can help manage your child’s symptoms and make the condition easier to live with.

Make sure your child:

• goes for their routine and annual reviews. The specialist team will arrange these check-ups for you. They can check your child’s lungs and see how well their treatment is working. You can also talk about your child’s symptoms, and ask about their growth.
• takes all the treatments their specialist team prescribes. These may include antibiotics, physiotherapy and other medicines.
• has a daily routine of physiotherapy. This is an important part of your child’s daily care. It can be started when your child is a baby. Cystic Fibrosis Trust has some useful ideas to keep your child happy while they’re doing their airway clearance techniques, such as Project Fizzyo and PlayPhysio. Your child’s physiotherapist can help and support with this too.
• gets regular exercise. Physical activity and exercise can help your child to clear mucus in their lungs, and make airway clearance techniques easier. Ask your child’s physiotherapist to suggest exercises that are best for your child. Cystic Fibrosis Trust has videos to make exercise more fun for your child.
• gets the right nutrition. This is important to help your child grow and keep healthy. Your child’s dietician can help you make sure your child is eating well.
• is up to date with all their childhood vaccinations and has their yearly flu vaccine.  Family and carers should also get the flu vaccine.
• is not exposed to cigarette and vape smoke. Smoke could make their symptoms worse. Find out more about the risks of smoke and other air pollution on your child’s lungs.
• gets the right support in school. Cystic Fibrosis Trust has information for parents and teachers about starting school and secondary school.

You can find answers to common questions parents ask and connect with other parents who know what you’re going through.

It’s important to look after yourself too. Cystic Fibrosis Trust has advice for you as a parent or carer.

Cystic fibrosis can affect many parts of the body. You may need extra support and treatment for common complications because of your condition.

Common complications include:

• being underweight
• being low on vitamins A, D, E and K
• muscle or joint pains
• constipation. If it’s severe, it can sometimes cause a blocked intestine
• diabetes – this is not common in children under 10, but up to 1 in 2 adults with cystic fibrosis have CF related diabetes
• weaker bones and osteoporosis
• urinary stress incontinence (leaking urine)
• liver disease
• nasal polyps and sinusitis
• male infertility, and reduced fertility in females with cystic fibrosis.

Less common complications include:

• cystic fibrosis related arthritis
• delayed puberty – this usually affects people with severe types of cystic fibrosis
• kidney stones – this can affect 1 in 20 adults with cystic fibrosis.

You can get more information on symptoms and complications from Cystic Fibrosis Trust.

There’s no cure for cystic fibrosis. But people with cystic fibrosis are living longer and healthier lives thanks to treatments helping to manage their symptoms.

Cystic Fibrosis Trust has lots of helpful information on life with CF, from childhood through to adulthood.

You can also find out how to connect with other people with cystic fibrosis on the Cystic Fibrosis Trust website. They also have a helpline.