Cystic fibrosis: what it is, symptoms, causes, diagnosis and treatment

The NHS describes cystic fibrosis as a rare inherited genetic condition that causes breathing and digestive problems. If you have it, your body makes a thick sticky mucus that can affect your lungs and digestive system, causing lots of symptoms and making you more likely to get infections.

NHS inform explains that the faulty gene means some cells struggle to move salt and water across the cell wall. Together with recurrent infections, this can result in a build-up of thick, sticky mucus in the body's tubes and passageways, particularly the lungs and digestive system. Over many years the lungs become increasingly damaged and may eventually stop working properly.

The NHS says cystic fibrosis is usually found shortly after birth as part of the NHS newborn screening programme, but if it goes undiagnosed, symptoms may only become noticeable when a child is a teenager. NHS inform says symptoms tend to start in early childhood, although they can develop very soon after birth, or may not be obvious until adulthood.

The NHS says cystic fibrosis is caused by an altered gene being passed on to a child by both of their parents. If the child only gets an altered gene from 1 parent, they will not have symptoms but could pass the condition on to any children they have if their partner also has the altered gene. This is called being a carrier.

NHS inform estimates that around 1 in every 25 people in the UK are carriers. It describes an autosomal recessive inheritance pattern, which means that if both parents are carriers, each child has the chances shown below.

The NHS says cystic fibrosis is one of the conditions all babies are checked for as part of the newborn blood spot test, and to tell the person taking the test if anyone in your family has it. If the test suggests your baby may have cystic fibrosis they will have another test to check the level of salt in their sweat, as people with cystic fibrosis usually have high levels of salt in their sweat.

NHS inform says the newborn blood spot test is not 100% accurate, so more tests are carried out to confirm the diagnosis: a sweat test, which is the most commonly used, and a genetic test of a blood or saliva sample. The NHS says older children and adults who might have cystic fibrosis will have a blood test followed by a sweat test.

If a relative has cystic fibrosis or is a known carrier, you can arrange to be tested yourself for the gene (carrier testing), and the NHS says you can ask for genetic counselling to talk to a specialist about having a baby.

The NHS says there is currently no cure for cystic fibrosis, but there are treatments that can help ease symptoms. You will be supported by different healthcare professionals, which may include specialist nurses and doctors, a physiotherapist and a dietitian. NHS inform says a person with cystic fibrosis will be supported by a team at a specialist cystic fibrosis centre, with a care plan tailored to their needs, and regular appointments to monitor the condition.

NHS inform says that getting the right nutrition is vital in helping people with cystic fibrosis develop normally and stopping them becoming frequently ill, because the majority of people with cystic fibrosis cannot digest food and absorb nutrients properly. A dietitian can give advice on a high-energy diet that is easy to digest, and the NHS says supplements may be given to help digestion.

The NHS suggests having a well-balanced diet, with enough calories and nutrients to stay healthy, and asking to speak to an NHS dietitian for more advice.

No. NHS inform says the condition is present from birth and cannot be caught from someone else who has it. It is inherited.

However, the NHS says people with cystic fibrosis should consider not meeting other people with cystic fibrosis face-to-face because there is a higher risk of catching serious infections from another person with the condition. For that reason, charities connect people online rather than in person.

The NHS lists things that can help lower the risk of complications and keep as healthy as possible.

• Stay as physically active as possible, which can help with clearing mucus from your body.

• Have a well-balanced diet with enough calories and nutrients, and ask for advice from an NHS dietitian.

• Wash your hands regularly with warm water and soap to reduce the chances of picking up some infections.

• Consider not meeting other people with cystic fibrosis face-to-face.

• Do not smoke or vape; it can damage your lungs and make some cystic fibrosis medicines less effective.

• Keep up to date with routine vaccinations and have the flu jab each year once old enough (NHS inform).

The NHS says cystic fibrosis currently has no cure and can shorten your life, but new treatments mean the symptoms can often be managed and many people diagnosed today will live well past middle age. Living with it can be hard, but having the condition does not always mean you cannot go to school, have a family or get a job. It requires lifelong care, and you will usually be referred to your nearest NHS cystic fibrosis care team.

NHS inform describes cystic fibrosis as a progressive condition, which tends to get worse over time, and says the outlook has improved considerably in recent years because of advances in treatment. The NHS lists possible complications including diabetes, liver disease, difficulty getting pregnant or infertility, weakening of the bones and damage to the lungs.

The NHS says to see a GP if you or your child have symptoms of cystic fibrosis and have not been diagnosed with it, if you are worried about your child's growth and development, or if you are pregnant or planning a pregnancy and someone in your or your partner's family has cystic fibrosis.

If you already have cystic fibrosis and feel worse, contact your CF care team, who will have given you a plan for chest infections and other changes.

Cystic fibrosis care is provided by specialist NHS teams, usually based in larger NHS hospitals, which the NHS says can provide treatment, support and advice on living with the condition. Newborn screening, sweat testing and genetic counselling are arranged through the NHS.

Private genetic carrier tests exist for people who want to know their status, and private appointments may be used for advice, but ongoing treatment is led by the specialist centre. Share any private results with your GP or care team.