Cystic fibrosis

Cystic fibrosis | NHS inform Home Illnesses and conditions Symptoms and self-help Tests and treatments Healthy living Care, support and rights Scotlands Service Directory 0 Home Illnesses and conditions Lungs and airways Cystic fibrosis Cystic fibrosis About cystic fibrosis Symptoms of cystic fibrosis Causes of cystic fibrosis Diagnosing cystic fibrosis Treating cystic fibrosis About cystic fibrosis Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus. Itcan 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. Its estimated that 1 in every 2,500 babies born in the UKhas cystic fibrosis. A number of treatments are available to help reduce the problems caused by the condition,but unfortunately averagelife 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 verysoon after birth, or may not be obvious until adulthood. Some of the main symptoms of cystic fibrosis can include: recurring chest infections difficulty putting on weight frequent, wet-sounding coughs diarrhoea 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 bodys 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, theres 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 babys heel and testing it forabnormalities that could indicate cystic fibrosis. More testswill 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 havent been screened previously. If you have a family history of cystic fibrosis, you can be tested to determine if youre at risk of having a child with the condition by checking if youre acarrier of the faulty gene that causes it. Read more about how cystic fibrosis is diagnosed Treatments for cystic fibrosis Theres currently no cure for cystic fibrosis, but a number of treatments are available to help control the symptoms, preventcomplications, and make the condition easier to live with. Possible treatments include: antibiotics to prevent and treat chest infections medicinestomake 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 needed 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 yearsbecause ofadvancements 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. Information about you If you or your child hascystic fibrosis, your clinical team will pass information about you/your childon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This 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 register Symptoms of cystic fibrosis 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 birthand very occasionallythey may not be obvious until adulthood. Nowadays, cystic fibrosis is usuallydiagnosed before symptoms appear, through screening tests carried out soon after birth. Read more about screening forcystic 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 occasional 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, whichcan affect how food travels through the gut and how itsbroken down or absorbed. This can cause: a serious bowel obstructionin 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 bodystruggles todigest 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 alsoexperience 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 dont develop correctly; women can become pregnant, however liver problems caused bythe tiny bile ducts in the liver becoming blocked by mucus leaking of small amounts of urine, particularly during coughing fits ( stress incontinence ) Causes of cystic fibrosis 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 bodys 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 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 ifthe parents are carriers of the faulty gene. This means they dont have cystic fibrosis themselves, but they can have a child with the condition if their partner also carries the faulty gene. Its estimated that around 1 in every 25 people in the UK are carriers of the faulty gene that causes cystic fibrosis. If both parents are carriers, theres a: 25% chance that each child they have will not inherit any faulty genes and wont havecystic fibrosisor 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 havecystic fibrosis This is known as an autosomal recessive inheritance pattern. Diagnosing cystic fibrosis 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 werent screened can also have tests to check for the condition. Tests to find out if you are a carrier of the faulty gene responsible forcystic fibrosismay also be recommended for some people. Newborn screening A newborn blood spot test is offered to all babies in Scotland to help detect problems early on, including cystic fibrosis. When your 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 youll be asked to attend a hospital appointment. The screening result isnt 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. Confirminga 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 havent 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, althoughgenetic testing may be done if the sweat test result is inconclusive or to identify the specific genetic fault thats causing the condition. Carrier testing Testing tofind out if you carry the faulty gene that causes cystic fibrosis may be useful if: youhave a close relative, such as a child, sibling or parent,whos a known carrier youhave a close relativewith cystic fibrosis your partner is known to carry thecystic 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 youre a carrier of the faulty gene can help determine if youre at risk of having a child with cystic fibrosis.A genetic counsellorwill explain the results of the testto you and discuss the implications and options available forfuture pregnancies. Treating cystic fibrosis Theres currently no cure for cystic fibrosis, but its 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 ateam of healthcare professionals at a specialist cystic fibrosis centre. A care plan will be drawn up thats tailored to their individual needs. A range of treatments may beused and sometimes treatment in hospital will be needed. Regular appointments to monitor the condition will also be recommended. Some of the main treatments for cystic fibrosis include: Medications 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 treatnasal polyps(small growths inside the nose) Its alsoimportant that people with cystic fibrosis are up to date with all routine vaccinations and have the flu jab each year once theyre old enough. Airway clearance techniques In addition to medication, special techniques can be used to help keep the lungs and airways clear. A physiotherapistcan 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. 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 food and absorb nutrients from when theyre 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 thats high in calories (energy), fat and protein takingvitamin and mineral supplements 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 theyre often younger and in better general health. Itsestimated that up to 9 out of 10 people will survive for at least a year after a transplant. The Cystic Fibrosis Trust has information on lung transplants in cystic fibrosis . 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 withcystic fibrosisany sport or exercise is usually good, but if youre 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 doesnt get enoughvitaminD and calcium(from their diet and/or from supplements) insulin medication and a special diet may help someone with diabetes caused bycystic fibrosis control their blood sugar levels Source: NHS 24 - Opens in new browser window Last updated: 18 October 2023 How can we improve this page? Help us improve NHS inform Thank You Your feedback has been received Dont include personal information e.g. name, location or any personal health conditions. 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