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CYSTIC FIBROSIS

How common is it?

Cystic fibrosis is the most common genetic disease in white Australians. It occurs in 1 in 2,500 births.

What are the problems?

People with cystic fibrosis look like anybody else but produce thick sticky mucus from many of the glands throughout the body.

The thick secretions usually damage the pancreas before birth, so that people with CF must take pancreatic enzyme capsules with every meal to enable them to digest their food and grow normally.

The lungs are affected from early life and children with CF develop frequent infections due to thick, sticky mucus. Over time, progressive lung damage occurs in the airways so chest infections are treated early with antibiotics and chest physiotherapy.

Other organ systems are also affected by cystic fibrosis. Liver disease develops in nearly 10% of people with CF, while up to 25% of adults with CF will also develop diabetes. Women with CF have reduced fertility but may become pregnant and bear children normally. Nearly all men with CF are infertile due to a blockage of the sperm ducts by thickened mucus which results in sperm being unable to leave the testes.

People with cystic fibrosis lose a lot of salt in their sweat, leading to problems when exercising in hot weather with heat exhaustion. A test which measures salty sweat, the 'sweat test', is often used to diagnose CF. Sinus infections are also common.

Can other people catch cystic fibrosis?

No. Cystic fibrosis is an inherited condition. The bacteria that cause infections in the lungs of people with CF do not generally infect people with normal lungs.

How is cystic fibrosis inherited?

To develop cystic fibrosis, a person must inherit two copies of the CF gene, one from each parent. Having only one copy of the CF gene means you are a carrier. About 1 in 25 people are carriers of the gene, are perfectly healthy and do not have the disease. Children with CF are born to parents who both carry the gene without ever being aware that they were carriers of this condition.

The only way to find out if one is a carrier for the cystic fibrosis gene is to undergo a special test. This is offered to people who have a relative with CF.

How do you know if you have cystic fibrosis?

In most States in Australia, all newborn babies are tested for cystic fibrosis as part of the routine blood test taken in the first few days of life. Otherwise, CF is usually diagnosed shortly after birth due to a bowel blockage, poor weight gain, or frequent chest infections. Some people with milder disease are diagnosed later in life because of recurrent chest infections or infertility.

How is it treated?

There is no cure for cystic fibrosis. The aims of treatment are to decrease the severity of the symptoms and prevent the development of complications. Treatment is carried out in major centres which have the expertise of a multi-disciplinary team to produce the best outcome.

Key treatment aims are to maintain a healthy weight gain in children and to minimise the severity of chest infections. Treatment begins in infancy to clear the lung secretions by means of daily physiotherapy and exercise. Treatment needs to be continued for life to limit lung damage and infection. Many people growing up with CF develop an interest in sport and fitness, as exercise is one of the best ways to keep their lungs as free of secretions as possible.

The treatment program is time-consuming and is likely to increase the amount of time a person with CF has to engage in other activities such as school, work or recreation. For children and young people with CF, the involvement and support of their families is essential to establishing a treatment program.

When the infection in the lungs becomes severe, people with CF are often admitted to hospital for care which includes high dose intravenous antibiotics, physiotherapy and inhalation therapies. Most people who need admission to hospital require about 10-14 days of treatment for each infection. Repeated admissions to hospital may mean a long time away from school or work. Some people prefer to have their intensive antibiotic treatments at home, and this can be arranged in some centres as part of a coordinated community care program.

What happens to people with cystic fibrosis?

Currently in Australia, most people with cystic fibrosis live into their 30's and 40's, although many individuals live considerably longer. Some, unfortunately, die at an earlier age due to progressive lung infection which ultimately leads to respiratory failure and death.

Lung transplantation is a treatment option available for severe lung disease, and CF is one of the most common reasons to undergo this operation. Lung transplantation is still a high-risk procedure which does not guarantee a normal life expectancy.

What does the future hold?

Cystic fibrosis is one of the best understood human genetic diseases. Several trials of treatment aimed at correcting the genetic defect in the lungs have been conducted with some success, however, gene therapy which is effective in everyone with CF is still some years away. Treatment directed to the lungs will not correct the other problems associated with the disease such as malabsorption of food, liver problems, diabetes and infertility.

Further research into cystic fibrosis is likely to involve a remedy for the basic problem in the mucus producing glands of the body. Meanwhile, improvement in currently available treatments will enable people with CF to live longer and more productive lives.

For further information, contact your doctor or the Cystic Fibrosis Association in your State.

Please Note: This information is intended by The Australian Lung Foundation to be used as a guide only and is not an authoritative statement. Please consult your family doctor or specialist respiratory physician if you have further questions relating to the information provided here.

© 1996, The Australian Lung Foundation