Cystic fibrosis (CF) is an inherited, life-limiting disease that affects the body's exocrine glands, which produce mucus, saliva, sweat and tears.
In CF, a genetic mutation disrupts the delicate balance of sodium, chloride and water within cells, causing the exocrine glands to secrete fluids that are poorly hydrated and therefore thicker and stickier than fluids in people without CF. This leads to chronic problems in various systems of the body, particularly the lungs and pancreas, and the digestive and reproductive systems. In the lungs of a CF patient, the thick mucus and the thinning of the airway surface liquid make it nearly impossible for the cilia to clear bacteria from the airway. This severely impairs the natural airway-clearing processes and increases the potential for bacteria to be trapped, leading to respiratory infections that may require hospitalisation. Impairments in these vital lung defence mechanisms typically begin in early childhood and often result in chronic secondary infections, leading to progressive lung dysfunction and deterioration. Although the life expectancy of CF sufferers has increased over the past few decades due to better management of the disease, the median life expectancy today for patients with cystic fibrosis is only 31 years of age. There are 33,000 diagnosed CF patients in the US and 75,000 in the eight major pharmaceutical markets. In Australia, 2,500 people suffer from the disease, a quarter of whom are children under five years of age.
Currently there is no cure for CF. The goal for doctors treating CF sufferers is to hydrate, breakdown and move the excessive, sticky mucus secretions to improve lung function and reduce the number and severity of secondary lung infections. CF sufferers and their carers are generally able to manage the condition at home using a combination of exercise daily physiotherapy, postural drainage, and chest percussion (to assist the sufferer to expel mucus from their lungs). Depending on the severity of the condition, caring for a person with CF can take several hours of at-home treatment every day.
Medications to treat CF are limited, and while newer medications targeting the defective protein are now available they are not beneficial in all patients. Nebulised medications, delivered by aerosol or a face mask, are used to make the mucus less thick and sticky and open up the airways. Antibiotics, either nebulised or by oral or intravenous administration may also be required to treat secondary infections.
The treatment of cystic fibrosis by clinical teams is highly individualised. The need to consider the individuals' current health/disease state, any comorbidities, as well as important lifestyle factors, makes treatment complex and varied. Having a broad range of therapies available for use in a highly tailored way helps to optimise outcomes for CF patients.