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Health condition · Clinically reviewed

Cystic fibrosis, specialist centre care, CFTR modulators and a transformed outlook.

The UK model of care is clear - newborn screening, a specialist CF centre and, for around 85 per cent of people, modulator therapy that changes the disease itself.

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Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a registered UK clinician before publication.

  • 02

    Sourced from guidance

    Checked against NICE, the UK CF Trust and specialist commissioned CF services you can see at the end.

  • 03

    Current for 2026

    Reflects modern UK CF care including CFTR modulator therapy (Kaftrio, Symkevi, Kalydeco) and specialist centre pathways.

Key facts

Cystic fibrosis at a glance.

The essentials, in plain English - what it is, how it is diagnosed, and how modern UK CF care has transformed the outlook.

  • What it is

    The most common life-limiting inherited disease in the UK Caucasian population, affecting roughly 1 in 2,500 births - autosomal recessive, caused by mutations in the CFTR gene on chromosome 7.

  • Why it matters

    A multisystem disorder of chloride transport - thick tenacious secretions cause obstructive lung disease, pancreatic insufficiency, male infertility, sinus, liver and diabetes complications.

  • How it is picked up

    Since 2007, UK newborn screening (heel-prick immunoreactive trypsinogen plus gene panel) identifies most children at birth - confirmed by sweat test and full CFTR sequencing.

  • Outlook today

    Life expectancy has been transformed - median predicted survival is now well over 50 years for babies born today, driven by specialist centre care and CFTR modulators.

  • CFTR modulators

    Kaftrio (elexacaftor/tezacaftor/ivacaftor) is now available on the NHS for around 85% of the UK CF population and has dramatically improved lung function, weight and exacerbation rates.

  • How care is delivered

    Care is mandatory in a specialist CF centre - a multidisciplinary team of respiratory, physiotherapy, dietetics, pharmacy, psychology, microbiology and endocrinology.

Why this guide matters

A modern disease, changed by modern care.

Three ideas underpin everything else on this page - the specialist centre, the daily routine, and the new generation of CFTR modulators.

  • Specialist CF centre care

    Every person with CF in the UK should be under a specialist CF centre with an MDT - it is the single most important determinant of long-term outcome.

  • Airway clearance and antibiotics

    Daily physiotherapy, nebulised mucoactives and aggressive treatment of chest infections remain the backbone even in the modulator era.

  • CFTR modulators change the disease

    Kaftrio and its siblings target the underlying CFTR protein defect and have transformed lung function, weight and exacerbation rates since 2020.

How the diagnosis is made

From heel prick to specialist centre care.

The steps a UK newborn screening programme and specialist CF centre will normally follow, in order - so you know what to expect and why.

  1. 01

    Screening

    Newborn screening (heel prick)

    Immunoreactive trypsinogen followed by CFTR gene panel (including F508del) - the vast majority of UK cases are picked up in the first weeks of life.

  2. 02

    Screening

    Confirmatory sweat test

    Sweat chloride greater than 60 mmol/L is diagnostic - values of 30 to 59 mmol/L are intermediate and prompt full gene panel and repeat testing.

  3. 03

    Screening

    Full CFTR genetic testing

    Complete CFTR sequencing plus deletion and duplication analysis confirms the mutation class (I to VI) and guides eligibility for modulator therapy.

  4. 04

    Baseline

    Baseline lung function and imaging

    Spirometry (FEV1, FVC), lung clearance index, plethysmography and high-resolution CT establish baseline bronchiectasis, mucus plugging and air trapping.

  5. 05

    Baseline

    Sputum microbiology surveillance

    Regular sputum culture for Pseudomonas aeruginosa, Staphylococcus aureus, Burkholderia cepacia complex, non-tuberculous mycobacteria and fungi.

  6. 06

    Baseline

    Pancreatic and nutritional review

    Faecal elastase, fat-soluble vitamin levels (A, D, E, K), growth and weight tracking - most children are pancreatic insufficient from the start.

  7. 07

    Annual

    Annual multisystem review

    Annual OGTT for CF-related diabetes from age 10, liver function tests and ultrasound, DEXA scan for bone density, and fertility counselling.

Typical pathway: heel-prick screening to specialist CF centre in the first weeks of life.

Symptoms

What cystic fibrosis looks like at every stage.

CF is a multisystem disease and its features change through infancy, childhood, adulthood and late disease. Recognising the pattern helps everyone spot problems early.

  • Neonatal - meconium ileus

    Failure to pass meconium, bilious vomiting, abdominal distension and prolonged neonatal jaundice may be the first sign in the newborn period.

  • Infantile - failure to thrive

    Recurrent chest infections, chronic cough, steatorrhoea (bulky, offensive, greasy stools) and poor weight gain despite a good appetite.

  • Childhood - chronic cough

    Chronic productive cough, bronchiectasis, Pseudomonas colonisation, nasal polyps and, less commonly, rectal prolapse.

  • Adult - DIOS and infertility

    Distal intestinal obstruction syndrome (DIOS), male infertility from congenital bilateral absence of the vas deferens (CBAVD) and CF-related diabetes.

  • Adult - liver and bones

    CF-related liver disease (CFLD), osteoporosis and CF arthropathy become more prominent with age.

  • Late - respiratory failure

    Progressive respiratory failure, cor pulmonale, Burkholderia infection and non-tuberculous mycobacterial disease in advanced lung disease.

  • Complications - CFRD

    CF-related diabetes affects roughly 30 per cent of adults by age 30 - a distinct entity from type 1 and type 2 diabetes, needing specialist management.

  • Red flag - haemoptysis or pneumothorax

    Massive haemoptysis, pneumothorax, or an unusually rapid decline in FEV1 needs same-day contact with the specialist CF centre.

Treatment

How cystic fibrosis is managed in the UK.

Specialist CF centre care is mandatory - and combines daily airway clearance, nebulised therapy, aggressive antibiotic use, nutrition, and CFTR modulators.

  • Specialist CF centre and MDT

    Care is centred on a regional specialist CF centre with respiratory, physiotherapy, dietetics, specialist nurse, pharmacy, psychology, microbiology, gastroenterology, endocrinology, fertility and palliative input.

  • Daily airway clearance

    Daily physiotherapy - active cycle of breathing, PEP, acapella devices, high-frequency chest wall oscillation - plus regular exercise as the single most powerful adjunct.

  • Nebulised mucoactives

    Hypertonic saline, dornase alfa (Pulmozyme, recombinant DNase) and mannitol thin secretions and improve mucus clearance.

  • Nebulised antibiotics

    For chronic Pseudomonas colonisation - tobramycin, colistin or aztreonam in on-off cycles, with aggressive eradication of any new isolate.

  • IV antibiotic courses

    Pulmonary exacerbations are treated with high-dose intravenous antibiotics, often delivered as home IV through a portacath or PICC line with specialist support.

  • CFTR modulators (Kaftrio family)

    Ivacaftor (Kalydeco) for gating mutations, tezacaftor/ivacaftor (Symkevi) for F508del homozygotes, and elexacaftor/tezacaftor/ivacaftor (Kaftrio) for anyone with at least one F508del - a game-changer since 2020.

  • Pancreatic enzymes and nutrition

    Pancreatic enzyme replacement (Creon, Nutrizym) taken with every meal and snack, high-calorie diet and fat-soluble vitamin supplementation (A, D, E, K).

  • CFRD, bone, liver and fertility

    Insulin for CF-related diabetes, ursodeoxycholic acid for liver disease, bisphosphonates for osteoporosis, and surgical sperm retrieval with IVF for male fertility.

Selected people with end-stage disease are considered for lung transplantation, and modulator therapy is delivered through a dedicated CFTR modulator clinic at the specialist centre. Emerging options include gene therapy trials, mRNA therapies, next-generation modulators and phage therapy for multi-resistant infections.

What this guide is based on

The sources behind every claim on this page.

UK national guidance, the UK CF Trust and specialist society standards, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your specialist CF centre knows you and your history and can tell you which parts apply to you. If in doubt, contact your CF team.

  • NICE. Cystic fibrosis: diagnosis and management (NG78).

  • UK Cystic Fibrosis Trust. Standards of care and consensus documents.

  • NHS England. Specialised commissioning of cystic fibrosis services.

  • European CF Society (ECFS). Standards of care and CFTR modulator guidance.

Red flags

When to contact the CF centre urgently.

Most day-to-day CF management runs smoothly with the specialist team. These are the situations that need urgent, direct contact with your CF centre or A&E.

  • Massive haemoptysis

    Coughing large volumes of blood is a medical emergency - contact the specialist CF centre or attend A&E immediately for bronchial artery embolisation assessment.

  • Pneumothorax

    Sudden pleuritic chest pain with breathlessness in someone with CF needs urgent chest X-ray - even a small pneumothorax may need specialist intervention.

  • Rapid FEV1 decline

    A sustained drop in FEV1 despite treatment should prompt sputum culture, review for new pathogens (NTM, Burkholderia) and specialist review.

  • Distal intestinal obstruction (DIOS)

    Colicky right lower quadrant abdominal pain, distension and constipation - a CF-specific emergency, distinct from constipation, that needs urgent gastrografin or CF centre input.

  • Burkholderia cepacia complex

    A new positive Burkholderia culture changes management, infection control and transplant candidacy - always warrants specialist review.

  • Non-tuberculous mycobacteria (NTM)

    Persistent sputum positivity for NTM (particularly Mycobacterium abscessus) needs specialist prolonged multi-drug therapy and infection-control review.

  • CF-related diabetes symptoms

    Unexpected weight loss, thirst or polyuria in someone with CF - the threshold to check for CFRD is low, and management is insulin-based.

  • Suspected pregnancy on modulators

    Kaftrio and other modulators need specialist counselling in pregnancy - contact the CF centre early to weigh benefits and monitoring.

  • Mental health crisis

    The mental-health burden in CF is high - low mood or suicidal thoughts need urgent GP, CF psychology or crisis-team support.

Living with it

A daily discipline, with a strong team behind you.

Four things make the biggest difference day to day - airway clearance, nutrition, infection awareness and the support of the wider CF community.

A quiet reminder

Consistency beats intensity, every time.

Small daily habits - kept up for years - do more than a heroic week that doesn’t last.

  1. 01 Routine

    Daily airway clearance is non-negotiable

    Even on modulators, daily physiotherapy and exercise remain the foundation of long-term lung health.

  2. 02 Nutrition

    Enzymes with every meal

    Creon (or equivalent) with every meal and snack, plus fat-soluble vitamins, keeps growth and weight on track.

  3. 03 Infection

    Cross-infection is a real risk

    People with CF should not meet each other in person - clinic segregation, hand hygiene and equipment cleaning matter.

  4. 04 Support

    The CF Trust is on your side

    The UK CF Trust offers grants, advocacy, transition support and up-to-date guidance for families and adults living with CF.

Frequently asked

Everything we get asked about cystic fibrosis.

Quick answers on newborn screening, CFTR modulators, pancreatic enzymes and life expectancy.

  • What is cystic fibrosis?

    Cystic fibrosis is an inherited multisystem condition caused by mutations in the CFTR gene on chromosome 7. It disrupts chloride and water transport across epithelial surfaces, producing thick, sticky secretions that affect the lungs, pancreas, sinuses, liver and reproductive tract. It is the most common life-limiting inherited disease in the UK Caucasian population, affecting roughly 1 in 2,500 births.

  • How is CF diagnosed in the UK?

    Almost all UK children with CF are now diagnosed through newborn screening - the heel-prick test measures immunoreactive trypsinogen and then screens for common CFTR mutations. Diagnosis is confirmed by a sweat test (sweat chloride above 60 mmol/L is diagnostic) and full CFTR genetic testing. Older children and adults may still present with unexplained bronchiectasis, pancreatic insufficiency or male infertility.

  • What are CFTR modulators and who can have them?

    CFTR modulators are drugs that target the underlying CFTR protein defect rather than just the symptoms. Kaftrio (elexacaftor/tezacaftor/ivacaftor) is now available on the NHS for people aged 2 and over with at least one F508del mutation - around 85 per cent of the UK CF population. Symkevi and Kalydeco cover smaller mutation groups. They have dramatically improved lung function, weight and exacerbation rates, and are prescribed only through specialist CF centres.

  • Why does CF affect the pancreas and digestion?

    Around 85 per cent of people with CF have pancreatic insufficiency - the same thick secretions that clog the airways also block the pancreatic ducts, so digestive enzymes cannot reach the gut. Without pancreatic enzyme replacement (Creon and similar), fats and fat-soluble vitamins are not absorbed, causing steatorrhoea, poor growth and vitamin deficiency.

  • Is CF still a shortened-life condition?

    The outlook has been transformed. In the 1960s, most children with CF did not reach school age. Today, thanks to specialist centre care, aggressive infection management, nutrition support and CFTR modulators, median predicted survival for a baby born with CF now is well over 50 years, and many adults live full working and family lives.

  • Can people with CF have children?

    Yes, though with planning. Almost all men with CF have congenital bilateral absence of the vas deferens (CBAVD) and are infertile through natural conception, but sperm production is normal - surgical sperm retrieval with IVF is routinely offered. Women with CF are usually fertile but need specialist obstetric and CF centre input, and modulator therapy in pregnancy needs a careful, individualised discussion.

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