Cystic fibrosis

Cystic fibrosis (CF) affects more than 8,000 people in the UK, making it the most common
inherited disorder. It's a multi-system disease, which means it affects many organs in the body.
However, most of the symptoms affect the lungs and digestive system.

About cystic fibrosis

If you have healthy lungs, there is a constant flow of mucus (a slimy liquid) over the surfaces of
the air passages in the lungs. This removes debris and bacteria. If you have CF, this mucus is
excessively thick and sticky, due to an altered balance of salt and water in the lungs.

CF also affects the digestive system. In a healthy person, the pancreas produces enzymes
(chemicals) that pass into the gut. These enzymes break down the fat, carbohydrate and protein
in food. If you have CF, your pancreas still produces these enzymes, but the duct which takes
them to the gut is blocked by thick and sticky mucus.

Symptoms of cystic fibrosis

Lungs

If you have CF, the thick mucus is difficult to cough up and provides an ideal environment for
bacterial growth, leading to chest infections. Over time, repeated infections can damage the lungs
and you may become more breathless and prone to further chest infections. Treatment with
antibiotics can help treat your chest infections and prevent damage to the lungs.

Digestive system

If you have CF, enzymes produced by your pancreas can't reach your gut because the flow is
blocked. Without these enzymes you may not get enough nutrients, particularly fat, and you may
find it difficult to gain weight. Your faeces may contain excess fat making it oily, smelly, and
difficult to flush away.

Other conditions associated with CF include:

 CF-related diabetes, caused by chronic damage to your pancreas

 nasal polyps (small growths in your nose)
 CF-related liver disease
 osteoporosis (thinning of your bones)
 constipation leading to bowel obstruction, known as distal intestinal obstruction
syndrome (DIOS)
 male infertility, because the tube that carries sperm, the vas deferens, becomes blocked
 fertility problems in women, because your cervix becomes blocked with thick mucus

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These symptoms aren't always due to CF but if you have them, you should visit your GP for
advice.

Causes of cystic fibrosis

CF is an inherited condition that is caused by a faulty gene called the CF transmembrane
conductance regulator (CFTR gene).

In order to develop CF you need to inherit two CF genes, one from your mother and one from
your father. If you inherit only one CF gene, you're called a carrier and won't have symptoms.

Illustration showing how cystic fibrosis is inherited

When both parents are carriers, with each pregnancy there is a:

 one in four chance of having a child with CF

 two in four chance of having a child who is a carrier
 one in four chance of having an unaffected child

There are more than 1,000 genetic mutations associated with different degrees of severity of the
disease.

Diagnosis of cystic fibrosis

Screening

If you have a family history of CF or your partner has CF, you can be tested to see if you carry
the CF gene before you start a family.

Testing during pregnancy

If you and your partner are both carriers or if you already have a child with CF, tests can be done
early in pregnancy to see if your baby is affected. Tests include the following.

 Amniocentesis - in this test a small sample of the amniotic fluid that surrounds your baby
is taken and tested in a laboratory.

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  Chorionic villus sampling - in this test a sample of tissue (biopsy) is taken from your
placenta.

With both tests there is a risk of complications, including a small risk of miscarriage. You should
ask your doctor for more information.

Neonatal screening

Newborn babies are routinely screened for CF using 'blood spot screening'. A few days after
your baby is born your midwife will prick your baby's heel using a special device to collect some
drops of blood. The blood is then tested and may show if your baby has CF.

Sweat tests

If blood spot screening indicates that your baby could have CF, he or she may be offered a sweat
test. This involves a small amount of sweat being collected from your baby's skin and tested for
its salt content. People with CF have a large amount of salt in their sweat, so measuring it can
help determine whether or not your baby has CF.

If the sweat test indicates that your baby has CF, he or she will be referred to a specialist CF
team to discuss available treatments. The CF team includes a CF consultant (a doctor who
specialises in CF), a CF specialist nurse, a CF dietitian, a CF physiotherapist (a health
professional who specialises in movement and mobility), a psychologist and a social worker.

Treatment of cystic fibrosis

There is currently no cure for CF. There is a lot of research under way to try to find a cure for it
through gene therapy or drug therapy to target the CFTR gene. Many of these treatments are
undergoing clinical trials.

Current treatments aim to:

 treat chest infections and prevent further damage to the lungs

 improve nutrition by providing supplements containing enzymes to help digestion

Medicines

Before each meal or snack, you will need to take replacement enzymes such as pancreatin (eg
Pancrex or Creon). These supply the missing pancreatic enzymes and allow proper digestion of
food. You should also take vitamin and mineral supplements.

There is a range of possible treatments, according to your condition. These may include:

 regular antibiotics (tablets and/or nebulised antibiotics) to counter lung infections

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  mucolytics such as dornase alfa (Pulmozyme) to make your sputum (mucus from your
lungs) less sticky
 asthma therapy, such as bronchodilators, to help treat blocked airways and breathing
problems that may have been caused by infections
 insulin therapy for diabetes, to help your body break down sugar properly so you can
maintain a healthy weight

Always ask your GP for advice and read the patient information leaflet that comes with your
medicine.

Talking and physical therapies

Physiotherapy

If you have CF, you may need chest physiotherapy, which involves different techniques to help
loosen the sticky mucus. Your CF physiotherapist will show you how to do this for yourself or
for your child.

Regular exercise may help to ease some of your symptoms, such as breathing difficulties, and
can help you feel more confident. Talk to your CF nurse or CF physiotherapist about the best
type of exercise for you.

Counselling

You may be offered counselling to help you cope with the emotional and psychological aspects
of your illness or your child's. You can access this through your CF team.

If you have CF, there is a chance your child could inherit the disease from you. Genetic
counselling can offer reassurance and support if you're considering starting a family and want to
understand any problems that may be involved.

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