Cystic fibrosis

Health and Nutrition > Diseases > C Reviewed by Dr Dan Rutherford, GP

What is cystic fibrosis?

Cystic fibrosis, or 'mucoviscidosis', is a hereditary disease. A defective gene results in an inability to transport salt in certain kinds of cells in the lungs and in the pancreas. It is the most common hereditary disease in Western Europe.

Why does a person get cystic fibrosis?

Cystic fibrosis is an 'autosomal recessive' disease, which means that both parents have a gene defect that they pass on to their offspring. But the child will have cystic fibosis only if it inherits both of the defective copies of the gene. There is a 1:4 chance of this happening.

In the other three out of four chances the child will inherit a normal copy of the gene and be unaffected by cystic fibrosis. The exact mechanism is not known, but the altered salt transport severely thickens the mucus in the respiratory passages. This makes the respiratory passages more susceptible to bacterial infection, most frequently Staphylococcus and Pseudomonas.

How can I tell if I have cystic fibrosis?

The symptoms are usually noticeable in the first year of life. If cystic fibrosis is suspected, the diagnosis can be confirmed through a special sweat test. The GP can then make a referral to a cystic fibrosis centre at a hospital.

In the lungs, the disease results in repeated cases of pneumonia and breathing difficulties. The pancreas becomes less able to produce digestive juices, which may result in weight loss and greasy diarrhoea.

The disease increases the salt content in the patient's sweat. At high temperatures this may result in the patient losing too much salt and suffering heatstroke.

What can I do?

If somebody is expecting to be a parent, they should check if there have been any cases of cystic fibrosis in their family. If there is, they can talk to their doctor about being referred to a genetic counsellor. The counsellor will be able to assess the chances of the baby having the disease, at which point a decision can be made about continuing the pregnancy.

Someone with cystic fibrosis must avoid unnecessarily straining their lungs, for instance by smoking. Lung exercises with a special mask (PEP) are often useful.

Future prospects

Previously, the prognosis for cystic fibrosis sufferers was very gloomy. But the treatment is getting better and now there is an 80 per cent chance that a child with cystic fibrosis will live for over 40 years.

Genetic treatment holds considerable promise over the next decade but it will be in the future before this becomes any kind of mainstream treatment.

How is cystic fibrosis treated?

The treatment aims to maximise the lung function for as along as possible.

- Common treatments include lung physiotherapy as well as antibiotics to minimise the risk of lung infections. Complications within the pancreas can be managed by controlling the patient's diet, and providing supplements of pancreatic enzymes (eg Creon) to add to food.
- As a result of cystic fibrosis, some patients may also suffer asthma, which can be alleviated by asthma inhalers.
- A lung or a lung and heart transplant may be necessary if the lung function deteriorates very significantly.

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