GPAtlas🧭 When to suspect
Cystic fibrosis (CF) is the commonest life-limiting autosomal recessive condition in people of European descent.
• It affects roughly 1 in 2,500 UK births.
• Around 1 in 25 of the population carries a cystic fibrosis transmembrane conductance regulator (CFTR) mutation.
• A defective CFTR chloride channel produces thick, sticky secretions that obstruct the airways, pancreatic ducts and other exocrine organs.
• This drives 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:
• Recognise the patterns that should trigger a sweat or gene test.
• 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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