Introduction

Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system.  This causes lung infections and problems with digesting food.

In the UK, most cases of cystic fibrosis are picked up at birth using the newborn screening heel prick test.

Symptoms usually start in early childhood and vary from child to child, but the condition gets slowly worse over time, with the lungs and digestive system becoming increasingly damaged.

Treatments are available to help reduce the problems caused by the condition and make it easier to live with, but sadly life expentancy is shortened.

Symptoms of cystic fibrosis

The build-up of sticky mucus in the lungs can cause breathing problems and increases the risk of lung infections. Over time, the lungs may stop working properly.

Mucus also clogs the pancreas (the organ that helps with digestion), which stops enzymes reaching food in the gut and helping with digestion.

This means most people with cystic fibrosis don't absorb nutrients from food properly and need to eat more calories to avoid malnutrition.

Symptoms of cystic fibrosis include:

  • recurring chest infections
  • wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
  • difficulty putting on weight and growing
  • jaundice
  • diarrhoea, constipation, or large, smelly poo
  • a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed

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

Diagnosing cystic fibrosis

In the UK, all newborn babies are screened for cystic fibrosis as part of the newborn blood spot test (heel prick test) carried out shortly after they're born.

If the screening test suggests a child may have cystic fibrosis, they'll need these additional tests to confirm they have the condition:

  • a sweat test – to measure the amount of salt in sweat, which will be abnormally high in someone with cystic fibrosis
  • 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 used to diagnose cystic fibrosis in older children and adults who didn't have the newborn test.

The genetic test can also be used to see whether someone is a "carrier" of cystic fibrosis in cases where the condition runs in the family.

This test can be important for someone who thinks they may have the faulty gene and wishes to have children.

The Cystic Fibrosis Trust has more information on genetic testing for cystic fibrosis (PDF, 130kb).

Treatments for cystic fibrosis

There's no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

People with cystic fibrosis may need to take different medicines to treat and prevent lung problems.

Physical activity and the use of airway clearance techniques may also be recommended to help clear mucus from the lungs.

Complications of cystic fibrosis

People with cystic fibrosis also have a higher risk of developing other conditions.

These include:

  • weak and brittle bones (osteoporosis) – medicines called bisphosphonates can sometimes help
  • diabetes – insulin and a special diet may be needed to control blood sugar levels
  • nasal polyps and sinus infections – steroids, antihistamines, antibiotics or sinus flushes can help
  • liver problems
  • fertility problems – it's possible for women with cystic fibrosis to have children, but men won't be able to father a child without help from fertility specialists (see a doctor or fertility specialist for more advice)

They're more likely to pick up infections, and more vulnerable to complications if they do develop an infection, which is why people with cystic fibrosis shouldn't meet face to face.

The Cystic Fibrosis Trust has more information about complications of cystic fibrosis and preventing cross-infection.

Cause of cystic fibrosis

Cystic fibrosis is a genetic condition. It's caused by a faulty gene that affects the movement of salt and water in and out of cells.

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.

A person with cystic fibrosis is born with the condition. It's not possible to "catch" cystic fibrosis from someone else who has it.

How cystic fibrosis is inherited

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, which means they don't have cystic fibrosis themselves.

It's estimated around 1 in every 25 people in the UK are carriers of cystic fibrosis.

If both parents are carriers, there's a:

  • 1 in 4 chance their child won't inherit any faulty genes and won't have cystic fibrosis or be able to pass it on
  • 1 in 2 chance their child will inherit a faulty gene from one parent and be a carrier
  • 1 in 4 chance their child will inherit the faulty gene from both parents and have cystic fibrosis

If one parent has cystic fibrosis and the other is a carrier, there's a:

  • 1 in 2 chance their child will be a carrier
  • 1 in 2 chance their child will have cystic fibrosis

Outlook

Cystic fibrosis tends to get worse over time and can be fatal if it leads to a serious infection or the lungs stop working properly.

But people with cystic fibrosis are now living for longer because of advancements in treatment.

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

Support

Support is available to help people with cystic fibrosis live as independently as they can and have the best possible quality of life.

It can be helpful to speak to others who have the same condition, and to connect with a charity.

The following links may be useful:

Information about you

If you or your child has cystic fibrosis, your clinical team will ask you if you consent to being on the UK Cystic Fibrosis Registry.

This is a secure anonymous registry sponsored by the Cystic Fibrosis Trust that records health information on people with cystic fibrosis.

The registry helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the registry

 

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Treatment

Treatments for cystic fibrosis

There's no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

Regular appointments to monitor the condition are needed and a care plan will be set up and based on the person's needs.

People with cystic fibrosis are treated by a team of healthcare professionals.  Sometimes the condition will require treatment in hospital.

Medicines for lung problems

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

Medicines for lung problems include:

  • antibiotics to prevent and treat chest infections
  • medicines to make the mucus in the lungs thinner and easier to cough up – for example, dornase alfa, hypertonic saline and mannitol dry powder
  • medicine to help reduce the levels of mucus in the body – for example, ivacaftor taken on its own (Kalydeco) or in combination with lumacaftor (Orkambi, but this is only available on compassionate grounds if people fulfil several criteria set by the manufacturer)
  • bronchodilators to widen the airways and make breathing easier
  • steroid medicine to treat small growths inside the nose (nasal polyps)

It's also important that people with cystic fibrosis are up-to-date with all routine vaccinations and have the flu jab each year once they're old enough.

Exercise

Any kind of physical activity, like running, swimming or football, can help clear mucus from the lungs and improve physical strength and overall health.

A physiotherapist can advise on the right exercises and activities for each individual.

Airway clearance techniques

A physiotherapist can also teach techniques to help keep the lungs and airways clear.

These include:

  • the active cycle of breathing techniques (ACBT) – a cycle of deep breathing, huffing, coughing and relaxed breathing to move mucus
  • autogenic drainage – a series of gentle controlled breathing techniques that clear mucus from the lungs
  • airway clearance devices – handheld devices that use breathing techniques, vibration and air pressure to help remove mucus from the airways (for example, a positive expiratory pressure, or PEP, device)

The Cystic Fibrosis Trust also has information on airway clearance techniques and exercise and physiotherapy that can help.

Dietary and nutritional advice

Eating well is important for people with cystic fibrosis because the mucus can make it difficult to digest food and absorb nutrients.

The pancreas often doesn't work properly, making it even harder to digest food.

A dietitian will advise on how to take in extra calories and nutrients to avoid malnutrition.

They may recommend a high-calorie diet, vitamin and mineral supplements, and taking digestive enzyme capsules with food to help with digestion.

The Cystic Fibrosis Trust has information on eating well with cystic fibrosis and nutrition advice factsheets 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 Cystic Fibrosis Trust has information on lung transplants in cystic fibrosis.

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The information on this page has been adapted by NHS Wales from original content supplied by NHS Choices.
Last Updated: 17/07/2018 11:12:08