Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects many body systems, including your lungs and digestive system. It results from a change (mutation) in a particular gene.

CF causes you to have very thick and sticky mucus in your:

• lungs
• airways
• digestive system (gut)

This causes problems with:

• digesting your food
• repeated lung infections, which can permanently damage your lungs

In Australia, around 1 in every 2,500 babies born has CF.

There is currently no cure for CF. Australians with CF are living longer because treatments for CF are improving.

The symptoms of CF vary from person to person.

CF symptoms usually start in babies and young children. Rarely, if symptoms are mild, it may be diagnosed in adults.

There are many signs and symptoms of CF. Some are related to your respiratory system, where thick mucus clogs your airways. These can be:

• chronic (ongoing) cough
• wheeze
• shortness of breath
• frequent lung infections
• frequent sinus infections

Most people with CF have digestive problems. These are caused by your pancreas not working properly. Some common symptoms are:

• poor growth
• trouble gaining weight
• frequent greasy or oily stools (poo)
• bowel blockages

People with CF often have a combination of these symptoms.

If your baby has CF, it may take longer for newborn jaundice to resolve. Your health team will advise you if your baby needs special treatment for jaundice. Your baby may have difficulty passing meconium (their first poo after birth).

Other problems can include:

• fertility problems
• CF-related diabetes
• incontinence
• reflux
• low bone mineral density

CF is caused by a mutation (change) in a gene called the 'cystic fibrosis transmembrane conductance regulator' (CFTR) gene.

This gene helps control the salt and water balance in your cells. It affects the production of mucus, sweat and digestive fluids.

People with CF have 2 abnormal genes — one from each parent.

People who have one normal gene and one abnormal gene are called carriers. Most people don't know they're carriers. This is because CF gene carriers usually don't have any symptoms. However, they have a higher risk of developing CF-related health problems.

Both parents must carry the CF gene for the disease to be passed on to their child. If both parents carry the gene, there is:

• a 1 in 4 chance that their baby will have CF
• a 1 in 4 chance that their baby won't have CF
• a 2 in 4 chance that their baby will carry the gene for CF

If you're an adult who has a family history of CF, you can have genetic testing with blood tests. These will show if you carry the gene for CF.

If you're planning a pregnancy, your doctor can arrange for you to be tested for the CF gene.

If your results show that you carry the CF gene, you may want to talk with a genetic counsellor.

CF is usually found in newborn babies through the Newborn Screening Program, also known as the heel prick test.

This free test involves pricking your baby's heel to get a tiny blood sample. It looks for a number of health conditions, including CF.

If your baby has a positive heel prick test, they should then have a sweat test at about 6 weeks. This will show if they have CF.

Your baby may also be tested if they:

• have CF symptoms
• do not grow and gain weight as expected

Cystic fibrosis is best managed by a multidisciplinary team involving:

• doctors
• nurses
• dietitians
• physiotherapists
• pharmacists
• social workers
• psychologists

Management usually involves:

• physiotherapy every day to clear your lungs
• tablets to replace enzymes that help digest your food
• antibiotics for lung infections
• puffers (inhalers) to open your airways
• salt and vitamin supplements
• a special diet that is high in calories, high in salt and high in fat
• exercise to build up core strength

In the past, treatment focused on controlling symptoms and preventing complications. However there are now medicines available that target the cause of cystic fibrosis. These are called 'modulator therapies'.

Some people with CF may need a life-saving lung transplant. Others may need a liver or pancreas transplant.

People with CF need medical treatments and physiotherapy from birth. Treatment and management is lifelong.

It's important to have regular health checks, keep up to date with vaccinations and closely follow doctors' recommendations. This will help reduce the chance of complications.

People with CF may be advised to keep their distance from other people who have CF, to prevent spreading infections.

Complications of CF and its treatment include:

• malnutrition
• osteoporosis
• increased risk of some cancers
• hearing loss
• kidney problems

With improvements in life expectancy, people with CF are now more likely to get chronic health conditions associated with ageing.

In particular, people with CF have an increased risk of:

• bowel cancer
• heart disease

You can avoid having a baby with CF by having genetic testing before you become pregnant. If you are found to be a carrier, talk to a genetic counsellor about your options.

Cystic Fibrosis Australia and CF Together provide support and services to people with CF, their carers, and their families.

CF Together also has a national CF support line, which you can call on 1300 CF HELP (1300 23 4357).

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria) for more information. A registered nurse is available to speak with 24 hours a day, 7 days a week.

If your child or baby has CF, you can call Pregnancy, Birth and Baby to speak to a maternal child health nurse on 1800 882 436 or video call. Available from 7 am to midnight (AET), 7 days a week (including public holidays).

Other languages

Call the Telephone Interpreting Service (TIS) on 131 450 and ask the interpreter to call the national CF support line on 1300 CF HELP (1300 23 4357).