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Reviewed by Dr Dan Rutherford, GP
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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.
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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.
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As a result of cystic fibrosis, some patients may also suffer
asthma, which can be
alleviated by asthma inhalers.
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A lung or a lung and heart transplant may be necessary if the
lung function deteriorates very significantly.
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Based on a text by Dr Ole Davidsen, specialist and Dr Niels Høiby, consultant and professor
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Last updated 01.05.2005
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