Cystic fibrosis: diagnosis and management

Context

Cystic fibrosis is a multi-system genetic disorder affecting the lungs, pancreas, liver and intestine. It can have a significant impact on life expectancy and quality of life. The current median age of those who have died is 28 years and the median predicted survival is 45.1 years.

Diagnosis is primarily made during newborn screening. The median age at diagnosis is 2 months, and 1 in every 2500 babies born in the UK has cystic fibrosis. Approximately 60% of people on the UK cystic fibrosis registry are aged over 16 years.

Many different mutations are responsible for cystic fibrosis. The UK registry shows that 90.8% of people with cystic fibrosis have one known genotype; however 8.9% of people have at least one unknown genotype.

Lung function is often reduced in cystic fibrosis. The typical measure of lung function is forced expiratory volume in 1 second (FEV₁). FEV₁ is a key predictor of life expectancy in people with cystic fibrosis, and optimising lung function is a major goal of care.

Lung infections are a cause of significant morbidity in cystic fibrosis. Chronic infection (for example with Staphylococcus aureus and Pseudomonas aeruginosa) may need long-term use of antibiotics.

There is variation across the country in the multidisciplinary team structures used, the arrangements services make for providing care, and in the resources available to support services. Particular problems may arise with smaller shared-care clinic arrangements. In some centres, both inpatient and outpatient facilities are limited. For example, there may be problems in arranging admission to single rooms with en‑suite facilities. If adequate protocols are not in place, then there is a risk of cross-infection.

By making robust recommendations based on the available evidence and best practice in cystic fibrosis care, this guideline will help improve care for this highly complex condition.