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Published by Bupa's health information team, May 2009.
This factsheet is for people who have cystic fibrosis, or who would like information about it.
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
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.
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
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
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.
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.
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.
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
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
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
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.
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.
Cystic fibrosis Q&As
See our answers to common questions about cystic fibrosis, including:
- What is cystic fibrosis? Cystic Fibrosis Trust. www.cftrust.org.uk, accessed 20 October 2008
- Simon C, Everitt, H, Kendrick T. Oxford Handbook of General Practice. 2nd ed. Oxford: Oxford University Press, 2007:394-395
- Accurso FJ. Update in cystic fibrosis 2007. Am J Respir Crit Care Med 2008; 177:1058-1061. http://ajrccm.atsjournals.org
- McMillan JA, Feigin RD, DeAngelis CD, et al. Oski's Pediatrics Principles and Practice. 4th ed. Philadelphia: Lippincott, Williams and Wilkins, 2006:1425-1438
- Warrell DA, Cox TM, Firth JD. Oxford Textbook of Medicine. 4th ed. Oxford: Oxford University Press, 2005:1428-1438
- Strausbaugh SD, Davis PB. Cystic fibrosis: a review of epidemiology and pathobiology. Clin Chest Med 2007; 28:279-288. www.chestmed.theclinics.com
- Onady GM, Stolfi A. Insulin and oral agents for managing cystic fibrosis-related diabetes (review). Cochrane Database of Systematic Reviews 2005, Issue 3. Art. No: CD004730.pub2. www.cochrane.org
- Amniocentesis and chorionic villus sampling. Royal College of Obstetricians and Gynaecologists, 2005, guideline No. 8. www.rcog.org.uk
- Joint Formulary Committee, British National Formulary 54th ed. London: British Medical Association and Royal Pharmaceutical Society of Great Britain, 2007:67-68; 174
- Halfhide C, Evans HJ, Couriel J. Inhaled bronchodilators for cystic fibrosis. Cochrane Database of Systematic Reviews 2005, Issue 3. Art. No: CD003428.pub2. DOI: 10.1002/14651858.CD003428.pub2. www.cochrane.org
- Bradley J, Moran F. Physical training for cystic fibrosis. Cochrane Database of Systematic Reviews 2008, Issue 1. Art. No: CD002768.pub2. 10.1002/14651858.CD002768.pub2. www.cochrane.org
This information was published by Bupa's health information team and is based on reputable sources of medical evidence. It has been peer reviewed by Bupa doctors. The content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
Publication date: May 2009