Features

Cystic fibrosis: clear way forward

21 May 2020

Cystic fibrosis is a life-threatening genetic disease – especially in a time of pandemic – that affects the lungs, digestive system and other parts of the body. Treatment is a challenge, but that could be about to change, says journalist John Windell.

Around one in 25 adults carry the faulty gene that causes cystic fibrosis (CF) without experiencing any problems themselves, but the disease is only passed on when both parents have that faulty gene (Cystic Fibrosis Trust, 2020a). Even then, a child has only a one-in-four chance of developing the condition (Cystic Fibrosis Trust, 2020b). At present there is no cure for CF, so people who are born with it must live with it. Managing the condition is especially hard in these anxious times when catching Covid-19, which attacks the respiratory system, could further jeopardise patients’ health (see CF and Covid-19, below).

According to the Cystic Fibrosis Trust (2019), around 2500 babies are born with the condition every year in the UK, and some 10,500 people live with the disease. CF impairs the way patients’ bodies regulate water, chloride and sodium at a cellular level. As a result, a thicker, stickier mucus forms in some internal organs, particularly the lungs and the pancreas. In the lungs, this mucus is hard to clear and resistant to the efforts of the immune system, making it prone to infection. In the pancreas, the mucus blocks the flow of enzymes that break down food in the stomach, especially fats, meaning that children with CF find it hard to gain weight.      

The main diagnostic route for newborns across the UK is the heel prick test, which screens for a range of conditions and diseases, including CF. This means that condition can be detected early but, as Dr Keith Brownlee, director of impact at the Cystic Fibrosis Trust, warns, detection is only the first step. ‘This is just a screening test, so the baby will need further tests to confirm the diagnosis. That happens after the parents and child are back at home, so contact is sometimes made via the health visitor or someone else who knows the family, sometimes accompanied by somebody from the local CF centre. It is very variable around the country. But they will talk to the parents about the relevance of the positive screening test and then arrange for a more formal review and diagnostic test.’

‘Parents of children with CF will have multiple treatment interactions every day. It is a massive learning curve’

Range of treatments

Once the diagnosis is confirmed, the next task is to establish a treatment regime. As a genetic condition, CF affects individuals and part of their bodies in different ways depending on the genotype. However, typical regimes will address the nutritional element of the disease. ‘This would include pancreatic enzyme replacement therapy,’ says Keith. ‘That might involve several capsules a day taken with food and drink. They might also need vitamin supplements and additional calories, because the non-absorption in people with CF means they have greater metabolic demands.’

Treatment may also include frequent physiotherapy to keep the heart and lungs healthy and to promote good posture, which helps keep the airways clear.

Other treatments include regular mucolytics to try to break down the sticky mucus, and various antibiotics, sometimes intravenous, to help prevent and fight the infections associated with CF.

Chronic inflammation and infection become a greater problem as patients get older. So too does diabetes, triggered by the damage to the pancreas and increased metabolic demands. Other associated complications include liver disease, arthritis and fertility issues.

‘A young child will begin on a basic regime, usually involving physiotherapy, prophylactic antibiotics, vitamin supplements and pancreatic enzyme replacement therapy,’ says Keith. ‘Then, as the condition progresses, the burden of treatment often becomes quite significant.’


Screening for cystic fibrosis

Babies can inherit CF only when both parents carry the faulty gene. If these parents were to have four children, the chances are that two of the children would themselves become carriers of the faulty gene without having the disease, one would be entirely free of the faulty gene, and one would inherit both genes and so have CF.  

The Cystic Fibrosis Trust (2020a) says that around one in 25 people carry the faulty gene even though they have no family history of the disease.

Anybody with a family history has a much higher chance of being a carrier. For example, any siblings of a child with CF have a two-in-three chance of carrying the gene. Anyone with a family history of CF and their partner can now take a test to check if they are carrying the faulty gene. This will be either a routine mouthwash test or blood test. While a negative test indicates that a person is probably not carrying the gene, there is a small possibility that it might miss one of the less common mutations – around 2000 have so far been detected (Cystic Fibrosis Trust, 2020b).

If both partners test positive, they are offered a range of antenatal tests and counselling. IVF treatment is also a possibility, where genetic testing means that only those embryos tested free of CF are placed back in the womb.


Future of therapy

The nature of CF and its complications leads to a reduced life expectancy. Of the 137 people in the UK who died from CF in 2018, their median age was 32 (Cystic Fibrosis Trust, 2019). For those babies born with the disease today, though, the prospects are a little brighter: their median predicted survival age is just over 47 (Cystic Fibrosis Trust, 2019). ‘Those figures have improved over the years as treatment has got better,’ says Keith.

Thanks to ongoing research and further advances in treatment, those figures are likely to improve further. Gene therapy can replace a faulty gene with a healthy one and so prevent further damage 
to the lungs.

Modulator therapies (CF transmembrane conductance regulator modulators) also offer real hope. Instead of tackling the symptoms of the disease, these go direct to the abnormal protein in the cells, effectively correcting the fundamental physiological problem by allowing salt and water to pass in and out of cells normally. ‘Modulator therapies are potentially transformational in some patients, though they do depend on the individual genetic cause of the disease and they are only just beginning to be introduced,’ says Keith. ‘But this is the future of treatment for CF. It will provide a step change in the quality of life for a significant number of people with CF.’


Avoiding Covid-19 at all cost

The Covid-19 outbreak has had a grave impact on people with CF. All adults and children with the disease come under the government’s definition of ‘extremely vulnerable’ and were asked to protect themselves against potential infection by isolating themselves at home for at least 12 weeks. Their families, carers and friends were also asked to follow NHS guidance for shielding and protecting.  

‘Covid-19 is a massive worry for people with CF,’ says Dr Keith Brownlee. ‘But we don’t actually know what the impact of Covid-19 is on people with the disease. We are working to collect case details of people with the disease who have acquired Covid. And we are also coordinating the international effort to collect all that information. When we have sufficient data and experience, we plan to publish that information and guide people with CF and their families. But until we know more, it makes sense for people with CF to do everything in their power to avoid acquiring Covid.’  


Burden of care

These new therapies will not be able to make good on their promise for a few years yet, and in the meantime the main burden of everyday care will continue to fall on the parents of children with CF. ‘Clinical teams tend to have one interaction with a patient every six to eight weeks, whereas parents of children with CF will have multiple treatment interactions with them every day of the year. It is a massive learning curve for parents,’ says Keith. However, they have lots of support from the various specialist CF clinical units around the country, and from charities such as the Cystic Fibrosis Trust, which publishes a wide range of resources for parents on its website (see Resources, below).

As for HVs and other CPs, the role they can play in treating CF differs around the country. ‘For example, in Liverpool they have HVs who are really important in the screening process and the initial discussions with the parents,’ says Keith. ‘But because CF is relatively uncommon, just one in 2500 children, it is unusual for any single HV to gain any significant experience. CF care is also very much a tertiary speciality, so secondary care isn’t so involved in children with CF compared with other chronic conditions.’

That might be about to change with the advent of new treatments and of a post-Covid world. ‘I suspect we will see more remote care and remote monitoring,’ he says. ‘There is a growing emphasis on caring for people in their homes and in their communities than in hospital settings. I think a lot of things will be reviewed and that community services, GPs, HVs and other CPs will probably have a greater role in treating CF in future.’ 

Image credit | SPL


Resources  

  • The Cystic Fibrosis Trust website covers the disease from every angle and includes vital resources for parents cysticfibrosis.org.uk  
  • UK CF Medical Associations statement on coronavirus bit.ly/UK_CF_Covid-19  
  • CF is one of the many conditions covered by the British Lung Foundation blf.org.uk  
  • The Butterfly Trust is the specialist CF charity for people in Scotland butterflytrust.org.uk

References:

Cystic Fibrosis Trust. (2020a) What is cystic fibrosis? See: cysticfibrosis.org.uk/what-is-cystic-fibrosis (accessed 15 April 2020).

Cystic Fibrosis Trust. (2020b) What causes cystic fibrosis? See: cysticfibrosis.org.uk/what-is-cystic-fibrosis/what-causes-cystic-fibrosis (accessed 15 April 2020).

Cystic Fibrosis Trust. (2019) UK CF Registry Annual Data Report 2018 - at-a-glance. See: https://www.cysticfibrosis.org.uk/~/media/documents/the-work-we-do/uk-cf-registry/2018-registry-annual-data-ataglance-report-3-sep-2019.ashx?la=en (accessed 15 April 2020).

 

 

Subscription Content

Click To Return To Homepage

Only current Unite/CPHVA members or Community Practitioner subscribers can access the Community Practitioner journals archive. Please provide your name and membership/subscriber number below to verify access:

Name
Membership number

If you are not already a member of CPHVA and wish to join please click here to JOIN TODAY

Membership of Unite gives you:

  • legal and industrial support on all workplace issues 
  • professional guidance on clinical and professional issues 
  • online information, training and support 
  • advice and support for all health professionals and health support workers
  • access to our membership communities 
  • CPHVA contribution rate is the Unite contribution rate plus £1.25 per month 

Join here https://www.unitetheunion.org/join-unite/

If you are not a member of Unite/CPHVA but would like to purchase an annual print or digital access subscription, please click here

Top