Key learning points

  • Diagnosis of cystic fibrosis is supported by clinical history, genetic testing and sweat testing
  • All individuals with suspected or confirmed cystic fibrosis should have access to a multidisciplinary care team comprised of a range of specialists
  • Regular reviews should be carried out in individuals who have cystic fibrosis with lung involvement to assess height, weight, oxygen saturations and spirometry
  • Chest x-rays and blood tests should be offered annually to individuals who have cystic fibrosis with lung involvement
  • Annual screening of cystic fibrosis liver disease, diabetes and bone disease should be carried out in patients with risk factors

Introduction

The latest NICE guideline NG78 for cystic fibrosis (CF) was published in October 2017 with a focus on the diagnosis and management of CF.1 This guideline is comprised of a series of recommendations including the diagnosis of CF, service delivery, complications of CF, monitoring, assessment and management of CF and preventing cross-infection.1

Diagnosis 

The guideline highlights that the diagnosis of CF can be made in both asymptomatic (e.g. infants) and symptomatic individuals using a combination of clinical history, genetic testing and sweat testing.1 Newborn screening for CF has been routinely performed since 2003 in Scotland and 2007 in the rest of the UK and will pick up the majority of infants with CF.2 However, late diagnoses of CF are still made in individuals born prior to the introduction of the newborn screening programme.2 In the rare event of an individual who shows symptoms of CF but has a normal sweat test and negative genetic screening, a clinical diagnosis of CF is possible.1

Specialist CF care team  

It is recommended that all individuals with suspected or confirmed CF are assessed and managed as inpatients and outpatients by a specialist CF multidisciplinary team (MDT) with care being delivered in a specialist CF centre.1 The CF MDT should consist of specialist paediatricians or adult physicians as well as specialist nurses, physiotherapists, dieticians, pharmacists, clinical psychologists and social workers.1 In addition, the CF MDT should include or have access to specialists in allied specialties such as microbiology, diabetes, gastroenterology and interventional radiology.1 The CF MDT should liaise with primary care teams for provision of CF medication, immunisations, and managing medical conditions not related to CF.1 

Pulmonary monitoring and assessment

Specific guidance on the monitoring, assessment and management of respiratory diseases is included. Individuals with evidence of lung disease should be reviewed every 8 weeks in the paediatric setting and at least every 3 months in adult centres.1 All reviews should include measurement of height, weight, oxygen saturations and all adults and children who are capable of performing spirometry should have this checked at every visit.1 Respiratory samples should be taken for culture if possible. In addition, patients should have annual chest x-rays and blood tests including Aspergillus serology.1

Airway clearance technique

Airway clearance techniques (ACT) should be discussed with all individuals with CF, regardless of presence of lung disease.1 All individuals with CF lung disease should be offered an individualised ACT plan taking into account the patient’s ability, preferences and adherence.1 High frequency chest wall oscillation is not routinely recommended.1 Non-invasive ventilation to aid ACT may be used in selected cases.1

Mucoactive agents

Mucolytics should be offered to all patients with CF lung disease with rhDNase being offered first line.1 Hypertonic saline may be used in conjunction with rhDNase or as an alternative second line agent.1 Mannitol dry powder for inhalation may be used as a mucoactive agent but it is recommended for use only in children who cannot take or have not responded to rhDNase and hypertonic saline and in adults under the same circumstances who also have accelerated lung function decline.1

Pulmonary infection management 

Oral flucloxacillin is recommended from diagnosis until 3–6 years old as prophylaxis against Staphylococcus aureus infection.1 Eradication should be attempted on first isolation of Pseudomonas aeruginosa or Burkholderia cepacia complex (Bcc).1 Chronic P. aeruginosa infection should be managed with sustained inhaled antibiotic therapy; initially with colistimethate sodium.1 Patients who are deteriorating despite colistimethate sodium treatment should be offered tobramycin or aztreonam.1 Since the publication of these guidelines nebulised levofloxacin has been approved for prescription in chronic Pseudomonas infection as an alternative inhaled antibiotic.3 There is no evidence to support chronic suppressive inhaled antibiotic therapies in Bcc infection but they may be trialled in deteriorating patients.1 Treatment of non-tuberculous mycobacterial (NTM) infection should only be considered where infection is persistent and is coupled with evidence of NTM pulmonary disease.1 The CF lung is often polymicrobial and not all organisms are associated with pulmonary exacerbations and/or accelerated respiratory decline. These organisms may be innocent bystanders and not require acute or chronic treatment particularly if the patient is asymptomatic at the time of culture and clinically stable. These decisions should be guided by CF specialist physicians.

Screening recommendations 

CF liver disease should be screened for annually and, if present, treated with ursodeoxycholic acid.1 CF related diabetes (CFRD) should be screened for annually from 10 years onwards, in pregnancy, in patients who enterally feed or are prescribed long-term corticosteroids and in patients with unexplained weight loss or clinical deterioration.1 Bone disease should be screened for using dual energy X-ray absorptiometry in individuals with risk factors for reduced bone mineral density.1

Preventing cross-infection 

Recommendations to prevent cross-infection include the stratification of patients according to their infecting pathogens.1 Individuals with CF should be separated individually in outpatient clinics and treated in individual rooms with en suite facilities as inpatients.1

CFTR modulator therapy

An evolving and important aspect of CF care that is not covered in the 2017 guidelines is the use of CFTR modulator therapies. The modulators ivacaftor, lumacaftor/ivacaftor and tezacaftor/ivacaftor have now been routinely commissioned by NHS England for prescription as defined by their marketing authorisations.4 In June 2020, the latest combination CFTR modulator therapy elexacaftor/ivacaftor/tezacaftor was recommended for European licensing and is currently awaiting marketing authorisation.5,6 A funding agreement has been negotiated with NHS England which will allow clinicians in England to prescribe this therapy to eligible patients in England on the day marketing authorisation is granted.6 Equivalent terms on the financial agreement have also been offered to the devolved UK administrations.6

Dr Heather Green, Consultant respiratory physician, Wythenshawe Hospital, Manchester

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