GPAtlas🧭 When to suspect
Cystic fibrosis (CF) is the commonest life-limiting autosomal recessive condition in people of European descent, affecting roughly 1 in 2,500 UK births, with around 1 in 25 of the population carrying a CFTR mutation. A defective CFTR chloride channel produces thick, sticky secretions that obstruct the airways, pancreatic ducts and other exocrine organs – driving the classic combination of chronic suppurative lung disease and exocrine pancreatic insufficiency.
Most UK cases are now identified through the newborn blood spot (heel prick) screen, but a minority present later, and CF should stay on the differential at any age. The two skills for primary care are simple: recognise the patterns that should trigger a sweat or gene test, and support the daily treatment burden alongside a specialist CF centre – CF is never managed in primary care alone.
| Age / setting | Presentations that should prompt assessment |
|---|---|
| Newborn | Positive newborn blood spot screen (raised immunoreactive trypsinogen); meconium ileus; prolonged neonatal jaundice. |
| Infant / child | Faltering growth despite a good appetite; recurrent or persistent chest infections; steatorrhoea (pale, greasy, offensive stools); rectal prolapse; nasal polyps. |
| Adolescent / adult | Bronchiectasis of unexplained cause; male infertility (congenital bilateral absence of the vas deferens, CBAVD); recurrent pancreatitis; CF-related diabetes; chronic sinusitis. |
Source: NICE NG78 · NHS Newborn Blood Spot Screening Programme
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