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.
References:
- NICE. Cystic fibrosis: diagnosis and management. NICE guideline NG78. Published October 2017
- UK National Screening Committee (2019) Cystic Fibrosis (pregnancy). Available at https://view-health-screening-recommendations.service.gov.uk/cystic-fibrosis-pregnancy/