Cystic Fibrosis

Brief Information

Introduction

Cystic fibrosis is a common inherited condition that affects over 8,000 children and young adults in the UK. Five babies are born with the condition every week. Cystic fibrosis is a genetic disorder in which internal bodily secretions become thick and sticky, and hinder the function of certain organs, such as the lungs and digestive system.

The condition is caused by a faulty gene that controls the movement of salt and water in and out of cells in the body. When cystic fibrosis occurs, too much salt and not enough water passes into the cells and turns the body's secretions, which normally act as a lubricant, into a thick mucus. This mucus then clogs up the body's tubes, ducts and passageways, and makes them ineffective (not work properly) and prone to infection.

The faulty gene that causes cystic fibrosis is recessive, which means that two separate genes, one from each parent, are needed to inherit it. It is possible to carry the disease and not suffer from it; 1 in 25 people in the UK carry the condition. If two people who are both carriers have a baby, there is a 25% chance that the child will have cystic fibrosis.

Symptoms of cystic fibrosis include recurrent chest infections and poor growth, and the condition can also result in related health problems such as diabetes and infertility.

There is no cure for cystic fibrosis, but much research has been done on the faulty gene since it was identified, which continues today. There are also many treatments and therapies that can make the condition easier to live with.

Causes

Cystic fibrosis is an inherited condition caused by a faulty gene. The gene controls the amount of salt and water that can move between cells in your body, and in those with cystic fibrosis, the amounts are uneven.

The faulty gene allows too much salt and not enough water into your cells, which results in a build up of thick, sticky mucus in your body's tubes and passageways. These blockages damage your body's lungs and digestive system, resulting in inflammation and repeated infections.

In order for a child to be born with cystic fibrosis, they must inherit copies of the faulty gene from both their mother and their father. In the UK, it is thought that 1 person in every 25 carries the faulty gene for cystic fibrosis, which is why it is so common. A carrier can be completely healthy and have no symptoms of cystic fibrosis, as they only have one copy of the faulty gene required for the condition to exist.

If two people who both carry the faulty gene have a baby, the chances of the baby having cystic fibrosis are as follows:

• 25% chance that the child will inherit neither copies of the faulty gene - the child does not have cystic fibrosis nor carries the condition
• 50% chance that the child will inherit only one copy of the faulty gene from either their father or mother - the child does not have cystic fibrosis but is a carrier of the condition
• 25% chance that the child will inherit both copies of the faulty gene - the child has cystic fibrosis

Treatment

If you or your child has cystic fibrosis, you should treat the condition with help and advice from a team of healthcare professionals at a cystic fibrosis clinic. With regular visits, you can learn how to best manage the condition, and, as each case is different, you can receive tailored care for you or your child's cystic fibrosis.

The aim of treatment for cystic fibrosis is to ease the symptoms and make the condition easier to live with. It can also prevent or reduce the long term damage caused by infections and other complications.

The different types of treatment and physiotherapy for cystic fibrosis are detailed below.

Medication

Medical treatments for cystic fibrosis can help to clear and control infections in your lungs and digestive system. They can also be used to treat some of the health problems related to cystic fibrosis. The main medications include:

• Antibiotics - these can be taken to fight infections in your lungs. They can be inhaled through a nebuliser (a device which turns drugs into a mist that can be breathed in), or they may be injected if your infection is more severe
• Bronchodilator drugs - these are inhaled to help you breathe more easily. They work by relaxing the muscles that surround the airways in your lungs, helping them to open up
• Steroids - these can be taken to reduce swelling of the airways in your lungs, which can help your breathing. Steroid nasal drops and sprays can be used to treat nasal polyps (small growths inside the nostrils)
• DNase - this treatment, which is usually inhaled, helps to thin and break down the sticky mucus in your lungs so that it is easier to cough up
• Pancreatic enzymes - these should be taken before every meal to help your digestive system break down the food you eat, so that you can get the nutrients you need. Your pancreas cannot produce enough food-digesting enzymes due to the mucus clogging your digestive system, so these pills supply the enzymes instead
• Bisphosphonates - these can be taken to treat osteoporosis (weak and brittle bones), that can occur as a result of cystic fibrosis. They help to maintain bone density and can reduce the number of fractures that can occur
• Insulin - you will need to take this, and other appropriate treatments, if you develop diabetes as a result of cystic fibrosis
• Immunisations and flu jabs - it is particularly important that people with cystic fibrosis are up to date with all required immunisations. If you have cystic fibrosis, you should also ensure that you have an annual flu jab, as you are more susceptible to complications as a result of any infection

Lung Transplants

In advanced and severe cases of cystic fibrosis, a lung transplant may be recommended if there is respiratory failure, and all medical treatments have failed to aid breathing. Both lungs must be transplanted as they are both affected by the condition. A lung transplant is a serious operation which carries certain risks, but it can greatly improve the length and quality of life for people with severe cystic fibrosis. The longest surviving patients who had lung transplants as a result of cystic fibrosis had their operations over fifteen years ago.

Physiotherapy

Physiotherapy for cystic fibrosis helps to clear mucus build up in your lungs so that it can be coughed up. It is an important part of the treatment for cystic fibrosis as it helps to prevent infections and lung damage caused by the mucus.

Physiotherapy is carried out by 'clapping' on the patient's back and chest while they are lying down, which helps to shift the mucus in their lungs. If you or your child had been diagnosed with cystic fibrosis, you should start physiotherapy straight away. It should be done everyday, and the length of physiotherapy sessions may vary according to how clogged your lungs are. For example, if you do not have an infection and you lungs are no more clogged than usual, one or two sessions daily of 10-15 minutes should be enough. However, if you have an infection and your lungs are more clogged than usual, you may need as many as four daily sessions of up to 60 minutes at a time.

Your physiotherapist will advise you on how much physiotherapy should be done. Adults can be shown how to carry out physiotherapy for children with cystic fibrosis, and adults with the condition can be taught how to do it for themselves.

As well as treating cystic fibrosis with medications and physiotherapy, there are things that you can do at home to improve the symptoms of the condition. Both diet and exercise are very important in treating cystic fibrosis.

More Information

• Cystic Fibrosis Trust
• Cystic Fibrosis Trust - Find a Cystic Fibrosis clinic
• Find a centre for carrier testing - Genetic Interest Group
• Cystic Fibrosis Screening Programme
• UK Cystic Fibrosis Gene Therapy Consortium

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