On this page
- What is cystic fibrosis?
- What are the symptoms of cystic fibrosis?
- What causes cystic fibrosis?
- How is cystic fibrosis diagnosed?
- How is cystic fibrosis managed?
- Complications of cystic fibrosis
- Resources and support
- Related information on Australian websites
What is cystic fibrosis?
Cystic fibrosis (CF) is a genetic disease that mostly affects the lungs and digestive system. It results from a fault in a particular gene.
People with CF develop a lot of very thick and sticky mucus in their lungs, airways and the digestive system. They have problems digesting food and experience repeated lung infections, which can permanently damage their lungs.
Most people with cystic fibrosis have:
- chest problems such as cough, wheeze and repeated chest infections
- digestive problems and bulky, fatty stools (poo)
- very salty sweat
They may also have lung damage, malnutrition, poor growth and diabetes. Almost all men and most women with cystic fibrosis are infertile.
One in every 2,500 babies born in Australia has CF. The lives of people with CF are usually shortened by the disorder, and the average life expectancy of an Australian with CF is 38. However, people with CF can lead happy and productive lives with the right treatment.
What are the symptoms of cystic fibrosis?
The symptoms of CF are:
- chronic coughing
- shortness of breath
- frequent lung infections
- frequent sinusitis
- frequent nasal polyps
- inflammation of the pancreas (pancreatitis)
- trouble gaining weight
- salty and sweaty skin
- inability to tolerate heat
- fertility problems
- arthritis
What causes cystic fibrosis?
CF is caused by a mutation (change) in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene helps control salt and water in the cells and affects the production of mucus, sweat and digestive fluids.
Both parents must carry the faulty cystic fibrosis gene for the disease to be passed to their child. If both parents carry the gene, there is a 1 in 4 chance of it being passed on in each pregnancy.
You can be a CF carrier and not have any symptoms.
How is cystic fibrosis diagnosed?
CF is usually detected in newborn babies through a neonatal screening test, known as the heel prick test.
This free test involves pricking the heel of the baby to gain a tiny blood sample and detects up to 95 in every 100 babies with CF.
If a baby has a positive heel prick test, they should then have a sweat test at about 6 weeks old to see if they either have the disorder or are a healthy carrier of the faulty gene.
Adults who have cystic fibrosis in their family can talk to a gene expert and have blood tests to see if they carry the gene for CF.
How is cystic fibrosis managed?
While CF cannot be cured, there are treatments to manage it.
People with CF must consume up to 60 pills a day to help them digest food, and may do up to 4 hours of physiotherapy every day.
Management usually involves:
- physiotherapy every day to clear the lungs
- capsules to replace enzymes to help digest food
- antibiotics for lung infections
- puffers to open the airways
- salt and vitamin supplements
- a special diet
Some people with CF will need a lung transplant to prolong their lives. Other may need a liver or pancreas transplant.
Complications of cystic fibrosis
CF can affect the skin, pancreas, liver, intestines, sinuses, and sex organs.
Eventually, people with CF develop lung failure.
Resources and support
Cystic Fibrosis Australia
Cystic fibrosis is an inherited condition in which the lungs and digestive system can 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:
- 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 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 it 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.
Read more about how cystic fibrosis is diagnosed
Treatments for cystic fibrosis
There's 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 live 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 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 years because of 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.
Information about you
If you or your child has cystic fibrosis, your clinical team will pass information about you/your child on 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