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Cystic fibrosis (adults)

 


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Class
Gastrointestinal and respiratory systems
Description
Cystic fibrosis is the UK's most common life-threatening inherited disease affecting more than 8500 children and adults. It mainly affects the lungs and digestive system, making it difficult to breathe and absorb food properly.

When the Cystic Foundation Trust was founded in 1964, it was exceptional for a child to live for over 5 years. Now, because of improvements in the management of the disease, around half of the people in the UK with cystic fibrosis can expect to live beyond 38 years of age.
Causes
Cystic fibrosis is an inherited disease caused by a faulty gene (the Cystic Fibrosis Transmembrane Conductance Regulator - or CFTR gene). This gene is responsible for producing a channel in cell membranes through which salts and water pass. A faulty CFTR gene can alter the function of many organs, but especially the lungs, pancreas and gastrointestinal tract. Mucus secreted by these organs lacks water and becomes thick and sticky, causing a blockage and preventing the organ from working properly.

Cystic fibrosis is an autosomal recessive disease. This means that in order to develop the disease a baby has to inherit two cystic fibrosis genes from its parents, one from the mother and one from the father. If the baby inherits only one cystic fibrosis gene the baby does not develop any symptoms but becomes a carrier of the disease, able to pass it on to his or her children. There are around 2 million people in the UK - about one person in 25 of the population - who carry the faulty CFTR gene, but they show no symptoms of cystic fibrosis.
Symptoms
Cystic fibrosis is a multi-system disease meaning that many organs throughout the body are affected, but those most affected by the faulty CFTR gene are the cells lining the lungs, pancreas and gastrointestinal tract.

In the lungs, the thick sticky mucus clogs the airways and makes breathing difficult. Dirt and dust particles trapped in the mucus are not easily removed and the lungs become a breeding ground for bacteria, especially a bacterium called Pseudomonas aeruginosa, leading to severe chronic chest infections such as pneumonia.

In the pancreas, the thick mucus prevents the normal secretion of enzymes that are responsible for the digestion of food. Important nutrients such as proteins and fats are not absorbed and a child will fail to gain weight and not develop properly. The fat which is not absorbed is excreted as very foul smelling oily faeces.

In the gastrointestinal tract, the thick mucus can clog the intestines. Young babies may be unable to pass meconium, the first motion normally passed in the first few days after birth. Their abdomen will become swollen and painful and an urgent operation may be required to clear the obstruction.

Other symptoms include a very salty sweat and, later in life, complications such as diabetes, liver disease, infertility and osteoporosis may develop.
Diagnosis
All newborn babies in the UK are now tested for cystic fibrosis within the first week of life. The test, called the Guthrie test, involves taking a small sample of blood from the baby's heel. The test measures levels of IRT (immuno-reactive trypsin) in the blood. If IRT levels are raised it indicates cystic fibrosis and the test is repeated to confirm the results.

Others may be diagnosed by abnormal sweat test results. The sweat test measures the amount of salt in the sweat. The test may be performed in children with symptoms or a family history suggestive of cystic fibrosis.

For couples thinking of starting a family, there is a test called the carrier test or cascade test (so called because the test is cascaded out or offered to relatives) that can be used to determine if they are carriers of the cystic fibrosis gene. A simple mouthwash test is available on the NHS to individuals who have a relative with cystic fibrosis or a relative who carries the gene for cystic fibrosis. Referral for screening is through the family doctor and results are usually available within 4 to 6 weeks. Individuals who do not have relatives with genes for cystic fibrosis may ask for the test to paid for privately.

A negative carrier test result does not rule out the possibility of being a carrier, but the likelihood is extremely small.

If one partner is a carrier and the other has a normal test result, the chances of the baby having cystic fibrosis is also very small, but 1 in 4 babies may be a carrier.

If both partners are carriers, then there is a chance that 1 in 4 babies will have cystic fibrosis, 2 in 4 babies will be a carrier and 1 in 4 babies will neither have the disease nor be a carrier.

Genetic counselling is usually offered with the carrier test to hep put the results into context and to help couples decide what they want to do.
Treatment
There is no cure for cystic fibrosis. Treatment is aimed at controlling the symptoms of the disease and prolonging life. There are two main types of treatment: to improve nutrition and to reduce lung infections.

Improving nutrition - As the pancreas may be blocked and unable to secrete the enzymes needed for the proper digestion of food, pancreatic enzymes containing lipase, protease and amylase are given at meal times. These enzymes break down fats, proteins and carbohydrate that are present in food, allowing these essential substances to be absorbed for use by the body. Additional minerals and vitamins are also often given to make up any deficiencies.

Reducing lung infections - Daily chest physiotherapy involving vigorous massaging of the chest helps dislodge the sticky mucus from the lungs. Drug treatment using mucolytic agents such as carbocisteine, erdosteine or mecysteine breaks down the mucus and helps it to be expelled more easily from the lungs. Similarly, dornase alfa, breaks down the very high concentrations of extracellular DNA that are found in the viscous pus containing sputum of people with cystic fibrosis, greatly reducing the viscous and elastic nature of the mucus and allowing it to be removed by coughing.

Should an infection develop, the most likely cause of the infection is a bacterium called Pseudomonas aeruginosa. Treatment usually involves the use of an antibiotic called tobramycin which is administered by a nebuliser, a special type of inhaler. Other antibiotics may be given intravenously if the infection becomes particularly serious.

In addition to these treatments, bronchodilators such as salbutamol, and inhaled steroids such as beclometasone are used to help make breathing easier. Children must also be vaccinated against influenza and pneumonia to reduce the risk of their catching these diseases and their developing a severe chest infection.

Lung transplantation is a form of treatment for some patients with cystic fibrosis, and is being performed in the UK and in other parts of the world in both children and adults. Lung transplantation is major surgery and therefore carries considerable risks. It is appropriate only for a patient who is severely ill and for whom all other forms of conventional treatment are no longer helpful. Not all patients at this stage of the disease are suitable for a transplant.

Infertility - Cystic fibrosis may also cause a blockage in the tubes that carry sperm. Consequently, although men with cystic fibrosis are not infertile and usually have normal sexual function, they are generally unable to father a child. In such circumstances, couples may be offered an assisted conception technique called intra-cytoplasmic sperm injection (ICSI) that can take sperm directly from the man's testicles, injecting it directly into the woman's egg. Women with cystic fibrosis may be unable to conceive because thickened cervical mucus prevents access of sperm to the egg, or they may not be well enough to endure a pregnancy.

Gene therapy - Although there is no cure for cystic fibrosis at the present time, the future for patients with cystic fibrosis is looking brighter. Thanks to improved treatments, life expectancy is increasing and their quality of life is improving. Most promising, is the prospect of gene therapy. Now that the faulty CFTR gene has been identified, research funded by the Cystic Fibrosis Trust, is investigating ways of introducing a healthy gene into the lungs of patients with cystic fibrosis.

When to consult your pharmacist
Talk to your pharmacist if you need help with any of the medicines for cystic fibrosis that have been prescribed for you or your child. If you are not sure what the medicines are for or how to take them, your pharmacist will be able to help. The pancreatic enzymes are available in a variety of different forms and strengths and your pharmacist will be able to advise you how to use them with meals. Your pharmacist will also be able to show you how to use any inhalers correctly.
When to consult your doctor
About 1 person in 25 is a carrier of the faulty CFTR gene responsible for cystic fibrosis. If you are thinking of starting a family and you are worried that you and your partner may be carriers, speak to your doctor. Genetic testing is available to adults with a family history of cystic fibrosis and partners of people who have the disease. The CFTR gene can be detected by a simple mouthwash test. Genetic counselling will be offered if the test is positive.

If you or your partner has cystic fibrosis and are having difficulty in starting a family, your doctor will be able to advise you about assisted conception techniques.

If you are pregnant and you have good reasons to suspect that your baby may have cystic fibrosis, then there are antenatal tests such as amniocentesis or chorionic villus sampling that can be performed early in your pregnancy to determine whether the baby has cystic fibrosis. If the tests are positive, you will be offered counselling to help you decide whether you want to continue or terminate the pregnancy.
Information
Cystic Fibrosis Trust
The Cystic Fibrosis Trust is the UK's only national charity dedicated to all aspects of cystic fibrosis. It funds research to treat and cure cystic fibrosis and aims to ensure appropriate clinical care and support for people with the condition.

Further information can be found on the website www.cftrust.org.uk. Help and advice for those affected by cystic fibrosis is available through the Helpline on 0845 859 1000. For all other inquiries the switchboard is 020 8464 7211.



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