cystic fibrosis

Last edited 08/2022 and last reviewed 08/2022

Cystic fibrosis (CF) is the most common potentially lethal autosomal recessive disorder in Caucasian populations, characterised by chronic suppurative lung disease and chronic exocrine pancreatic insufficiency.

It affects 1 in 2500 infants and the frequency of carrier heterozygotes is estimated to be 5%.

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 (1).

  • 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.
    • 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.

The predominant symptoms of CF are attributed to epithelial abnormalities in the respiratory, digestive and reproductive tracts:

  • although lungs are normal at birth, recurrent respiratory infection is a major presenting feature
  • 85% of CF patients have pancreatic insufficiency
  • 10% of CF newborns suffer meconium ileus
  • patients are also prone to hepatic cirrhosis and male infertility.

There are many different mutations responsible for cystic fibrosis (1).

  • 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 (1):

  • 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 (1):

  • chronic infection (for example with Staphylococcus aureus and Pseudomonas aeruginosa) may need long-term use of antibiotics.

Based on the last UK National Screening Committee (NSC) review that occurred in August 2019, screening during pregnancy is not currently recommended for this condition (2):

    • many genes play a role in causing cystic fibrosis, which makes it difficult to know which ones to screen for
    • no new evidence to support screening all women during pregnancy.

Reference:

Related pages:

genetics and pathophysiology

clinical features and complications

diagnosis

differential diagnosis

further investigations

management

prognosis

diagram of inheritance pattern of an autosomal recessive condition e.g. Sickle Cell Disease, Thalassaemia, Cystic Fibrosis

cystic fibrosis (CF) - related diabetes