Cystic Fibrosis Management

Cystic fibrosis causes the body to produce thick mucus, which mostly affects the lungs and digestive system. The excessive production of mucus can lead to scarring and organ damage.

In the lungs, the build-up of mucus can cause chronic infections. In the digestive system, excess mucus can cause difficulty in digesting food (particularly fats). Complications associated with cystic fibrosis include diabetes, bone disease and infertility.

What Causes Cystic Fibrosis?

Cystic fibrosis is an inherited life-limiting genetic condition. It is caused by a genetic mutation that prevents cells in the body from correctly moving salt and water around. It affects around 11,000 people in the UK and can have a major impact on a person’s life expectancy and quality of life.

Testing For Cystic Fibrosis

In many countries, including the UK, newborn babies are routinely screened for cystic fibrosis. It forms part of the heel prick blood test that is done shortly after birth. The blood sample checks the levels of immunoreactive trypsinogen (IRT). If the level of this chemical is high, other tests will need to be carried out to confirm a diagnosis of cystic fibrosis. These tests usually include a sweat test, which tests the saltiness of the skin, and genetic testing.

As most newborns are now screened at birth, diagnosing cystic fibrosis in older children and adults is becoming far less common.

If you were not screened for CF at birth, and suffer from recurrent inflamed pancreas, nasal polyps, chronic respiratory infections, or male infertility, your doctor may suggest screening for the disease. Genetic and sweat tests will usually be performed.

Carrier testing is often done for people who are wanting to start a family and have a relative with the disease. This test, which can be in the form of a mouthwash or blood test, can determine if you carry the mutated gene responsible for cystic fibrosis.

How Is Cystic Fibrosis Treated?

People with cystic fibrosis require personalised and specialist care. They should have access to a multidisciplinary team of specialist doctors, nurses, and allied health professionals. With specialist care and treatment, people with cystic fibrosis are living longer and healthier lives than ever before.

Although there is currently no cure for cystic fibrosis, a number of treatments are available to help control the symptoms and prevent complications. Thanks to breakthroughs in medication, and other treatments, people with cystic fibrosis are now able to lead longer and more fulfilling lives.

Medication

Someone with cystic fibrosis needs to take several tablets daily. Medication may include antibiotics to prevent and treat chest infections; medicines to thin mucous, and bronchodilators to help open the airways.

Revolutionary treatments include CFTR modulators such as Kaftrio, which are now available on the NHS. This medicine can significantly improve lung function and improve overall quality of life.

Physiotherapy

Cystic fibrosis patients are likely to struggle with muscle atrophy, myalgia, osteoarthropathy, rheumatoid arthritis, and osteoporosis.

The main aim of physiotherapy is to improve their quality of life by removing excessive mucous secretions, improving lung function, and assisting with musculoskeletal therapy where needed. Helping a patient to maintain good posture can help prevent back problems that can hamper lung function.

Exercise

Staying active is extremely important for people with cystic fibrosis as it helps to clear mucous from the lungs and improves overall body strength and health.

Enzyme Therapy And Vitamin Supplements

Most people with cystic fibrosis need to take replacement enzymes with each meal or snack. These enzymes replace the missing pancreatic enzymes and enable proper digestion.

Most people with cystic fibrosis also need supplements of the fat-soluble vitamins A, D, E and K.

Nutrition and diet

Specialist cystic fibrosis dietitians can help a person with cystic fibrosis by supplying a tailored diet based on their condition, age, weight, height, symptoms, lung function and activity level. People with cystic fibrosis often require above-average calories.

Transplant

When someone with cystic fibrosis remains constantly unwell while on conventional treatment, their organs might suffer in the long term and an organ transplant may be necessary.

The most common organs to be transplanted are the lungs. Occasionally a liver or pancreas may need to be transplanted. People can live for 5 – 20 years after having a lung transplant.

Palliative And End-of-life Care

Palliative care is specialised medical care for people living with a serious illness such as cystic fibrosis. It focuses on providing relief from the symptoms and emotional stress of the illness and improving the quality of life for both the patient and the family. Palliative care occurs alongside conventional medical treatments.

Part of palliative care involves discussions with a patient and their family about prognosis and preferences for care. These discussions may include deciding on whether to have an organ transplant or to take part in an aggressive treatment trial when faced with deteriorating health.

Planning for the end of life, although difficult, reduces the stress of dying for both the patient and their family. End-of-life care usually includes deciding where the person wants to spend their final days, which treatments they want to receive, and what type of care they want to receive. Making a will and finalising funeral arrangements are both practical ways of planning ahead and lightening the load on family.

Frequently Asked Questions