Cystic Fibrosis (CF)

Diseases of the Respiratory System

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information about this disease, please refer to RVA Partner, Cystic Fibrosis Australia (CFA).¹

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

This page has been co-developed with RVA Partner, Cystic Fibrosis Queensland.²

Emergency Management

There may be special considerations for the emergency management of individuals living with cystic fibrosis (CF).

The care management of individuals with cystic fibrosis (CF) is multidisciplinary and delivered by cystic fibrosis clinics. Information about cystic fibrosis clinics available across Australia can be found at Cystic Fibrosis Australia: Support.

Clinical Care Guidelines

The Australian Standards of Cystic Fibrosis Care Guidelines can be found at Cystic Fibrosis Australia: Standards of Care. The standards have been endorsed by the Thoracic Society of Australia and New Zealand and cover topics including facilities and staffing, services, newly diagnosed children, adolescents and adults, inpatient and outpatient care, home therapy, transition care, outreach services and care, transplantation, and end of life care, as well as the role of the CF organisations.³

The Royal Australian College of General Practitioners (RACGP)’s guideline on genomics in general practice for cystic fibrosis can be found at RACGP: Cystic fibrosis.

Synonyms

Mucoviscidosis

ORPHA:586

ICD-11: CA25 Cystic fibrosis

Summary

Cystic fibrosis (CF) is a chronic, genetic condition caused by a defect or reduced function of the cystic fibrosis transmembrane conductance regulator (CFTR) transport protein.⁴ Whilst CF is a rare condition, it is one of the more common genetic disorders.¹ It can affect various organ systems, such as the skin, lungs, airways, and the digestive system.^1,4 In CF, there is excessive build-up of thick and sticky mucus in lungs, which can trap bacteria, causing frequent infections and lung damage.^1,4,5 Close contact or proximity between individuals with CF is not encouraged, as there is high risk of cross infection that can worsen lung conditions.¹There can be blockage of the pancreatic duct preventing the movement of digestive enzymes from the pancreas to the digestive system.⁴ This can lead to issues with digesting fats and nutrient absorption, resulting in malnutrition, poor weight gain and poor growth. There may also be inflammation and damage to the pancreas. Individuals with CF have high salt content in their sweat, resulting in salty sweat and increased risk of low blood sodium levels (hyponatremia) and dehydration. Other organ systems may also be affected, which can result in various other symptoms.^1,4 Daily medication and intensive physiotherapy are often required to manage this life-long and often life-limiting condition.¹

Cystic fibrosis (CF) varies between individuals, and each person’s experience is unique.
Please visit the following to read personal stories of individuals with CF:

Useful Links for Professionals

Cystic Fibrosis Australia: Standards of Care

Australian Cystic Fibrosis Data Registry (ACFDR)

Symptoms

Symptoms of cystic fibrosis (CF) may vary between individuals and may include, but are not limited to, the following:^1,4,5

a persistent cough with thick mucus
difficulty breathing, wheezing
frequent lung infections and lung disease
malnutrition and poor growth/weight gain due to poor absorption of protein and fat
poor appetite
salty sweat with increased risk of hyponatremia and dehydration
CF-related diabetes (CFRD)
infertility in males

Some newborns may present with meconium ileus,^3,4 which is the blockage of the bowel/small intestine by the baby’s first faeces.

Individuals with CF may also have other comorbidities (other health conditions).^1,4

Cause/Inheritance

Cystic fibrosis (CF) is caused by disease-causing (pathogenic) genetic changes in CFTR gene.⁴ Each person normally has two copies (alleles) of the CFTR gene, one inherited from each parent. CF is an autosomal recessive disorder, which means that individuals with CF carry disease-causing genetic changes on both copies of their CFTR gene.^4,5Individuals with only one disease allele will not have CF but will be a carrier and may pass on their disease allele to their children. If both parents are carriers, their children will each have a 25% chance of having CF. Carrier screening (a genetic test to identify if someone is a carrier) is available for CF in Australia.

Factsheet: Autosomal recessive inheritance (NSW Government Health: Centre for Genetics Education)

If you would like to learn more about the inheritance and impact of CF, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

A diagnosis of cystic fibrosis (CF) is often made through:

measuring levels of immunoreactive trypsinogen (IRT, indicative of issues with the pancreas) from a blood sample,
genetic testing to identify disease-causing genetic changes in genes associated with CF, and
sweat test to measure the range of sweat chloride.³

In Australia, CF is usually diagnosed in newborns via the Newborn Bloodspot Screening (NBS) Program. With parental consent, a clinician will collect a newborn body’s blood via a heel prick blood test and send it to a laboratory to test for several rare genetic conditions, including CF. If the test results from IRT and genetic testing are positive or equivocal (undetermined) for CF, diagnosis is often confirmed using a sweat test.³

In some cases, CF might not be detected or diagnosed via NBS.¹ Diagnosis of CF is sometimes made later in childhood or in adulthood. Early diagnosis of CF is essential for timely interventions and management.

Further information about diagnosis of CF is detailed in the Australian Standards of Cystic Fibrosis Care Guidelines found at Cystic Fibrosis Australia: Standards of Care.³

Treatment

Management of cystic fibrosis (CF) is lifelong and often time intensive. It is mainly targeted at the symptoms and usually involves:^1,4

Daily airway clearance physiotherapy to clear the lungs.
Oscillating positive expiratory pressure (PEP) devices to help open the airways.
Medication, such as enzyme replacement tablets which can help digestion of food.
Early use of antibiotics for treating lung infections.
Diet that is high in calories, salt, and fat.
Salt and vitamin supplements.
Regular exercise to clear airways and build core strength.

Modulator therapies such as CFTR modulators are also available.^1,3 These medications are aimed at treating the cause of CF to minimise the symptoms but are not curative and may not be suitable for everyone with CF.¹

Individuals with more serious lung conditions may require a lung transplant.⁴

Regular visits to a CF clinic are recommended for individuals with CF to ensure their condition and progress are closely monitored.^1,3It is also encouraged that individuals with CF avoid contact with each other, due to high risk of cross-infection that can cause their lung conditions to worsen.¹

Further information may be found at Cystic Fibrosis Australia: Standards of Care, which have been endorsed by the Thoracic Society of Australia and New Zealand.³It is best to speak with your medical team to learn more about possible treatments and to determine suitability of treatment. Treatment will depend on an individual’s specific symptoms and complications.

Clinical Care

Healthcare professionals involved in the treatment of cystic fibrosis (CF) may include respiratory paediatricians/physicians, geneticists, specialist cystic fibrosis nurses, physiotherapists, dietitians, gastroenterologists, occupational therapists, clinical pharmacists, social workers and psychologists or psychiatrists.^2,3 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

There are CF clinics across Australia that provide multidisciplinary support for people living with CF. Information about the CF clinics can be found at Cystic Fibrosis Australia: Support.

Research

Registries

The Australian Cystic Fibrosis Data Registry (ACFDR), managed by the Monash University Registries Unit, aims to accurately characterise the demographics, morbidity and mortality of the CF population of Australia over time, use health information to increase awareness and advocate for patient resources, improve quality of care by reviewing and monitoring trends in outcomes by benchmarking CF centres in Australia and internationally, and monitor the impact of new therapies and changed treatment practices.

Research funding

The Australian Cystic Fibrosis Research Trust (ACFRT) funds research into the treatment and cure of cystic fibrosis (CF). ACFRT is administrated by Cystic Fibrosis Australia (CFA) and supported by the state and territory CF organisations.

Other research funding is also available from the following state organisations (with the research applications assessed by an independent scientific advisory committee through the ACFRT):

Clinical trials

Cystic Fibrosis Australia: Clinical Trial Finder is an online portal with information on available clinical trials for cystic fibrosis (CF). Useful resources on navigating the clinical trial process and the relevant considerations can be found at Cystic Fibrosis Australia: Clinical Trials.

For more information on clinical trials:

Please visit Australian Clinical Trials to learn about clinical trials for CF in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for CF in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Cystic Fibrosis Australia
Website: https://www.cysticfibrosis.org.au/
Contact form: https://www.cysticfibrosis.org.au/contact-us/

Cystic Fibrosis Australia (CFA) is the peak consumer body for people living with cystic fibrosis (CF), with a focus on collaborative programs and research, funding partnerships, and advocacy. Its members are known as the Federations.

The Federation (the State and Territory Offices) provide support and services to people living with CF in specific states:

Cystic Fibrosis ACT (Australian Capital Territory)
Website: https://www.cysticfibrosis.org.au/cystic-fibrosis-act/
Email: [email protected]

CF ACT provides support for people living with CF in the ACT and the surrounding region.

Cystic Fibrosis Community Care (NSW/VIC)
Website: https://www.cfcc.org.au/
Phone: 1300 023 222
Email: [email protected]
Contact info: https://www.cfcc.org.au/page/125/contact-us

Cystic Fibrosis Community Care provides support for the NSW and Victorian CF communities.

Cystic Fibrosis Queensland (QLD/NT)
Website: https://www.cfqld.org.au/
Phone: (07) 3359 8000
Email: [email protected]
Contact form: https://www.cfqld.org.au/contact-us/

Cystic Fibrosis Queensland provides support for the QLD and NT CF communities.

Cystic Fibrosis South Australia
Website: https://www.cfsa.org.au/
Phone: 0422 760 682
Email: [email protected]
Contact form: https://www.cfsa.org.au/contact-us/

Cystic Fibrosis South Australia provides support for people living with CF in SA.

Cystic Fibrosis Tasmania
Website: https://cftas.org.au/
Phone: 03 6234 6085
Email: [email protected]

Cystic Fibrosis Tasmania provides support for people living with CF in Tasmania.

Cystic Fibrosis Western Australia
Website: https://www.cfwa.org.au/
Phone: (08) 6224 4100
Email: [email protected]
Contact form: https://www.cfwa.org.au/about-us/contact/

Cystic Fibrosis Western Australia provides support for people living with CF in WA.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

The Cystic Fibrosis Australia: Federation (State and Territory organisations) provide a range of support services. These include counselling, information workshops and seminars, case management, comprehensive home care services and professional development for allied health personnel, financial support to take part in physical activities.¹

CF Smart is a free resource for teachers and educators to improve understanding of CF care in an education setting.

For information on available government and social services that support individuals with a rare disease, please visit the National and State Services pages.

Mental Health

For information on available general mental health services, please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on cystic fibrosis (CF) can be found at:

References

Cystic Fibrosis Australia. Accessed 21 November 2023. https://www.cysticfibrosis.org.au/
Cystic Fibrosis Queensland. Accessed 21 November 2023. https://www.cfqld.org.au/
Douglas TA, Mulrennan S, Fitzgerald DA, Prentice B, Frayman K, Messer M, Bearcroft A, Boyd C, Middleton P, Wark P. Standards of Care for Cystic Fibrosis, Australia 2023. Cystic Fibrosis Australia, North Ryde, Sydney. 85 p. https://www.cysticfibrosis.org.au/wp-content/uploads/2023/08/CFA_Standard-of-Care_Design_Refresh_2023.16.08.23-TD-EDITS.pdf
Savant A, Lyman B, Bojanowski C, Upadia J. Cystic Fibrosis. 2001. Updated 9 March 2023. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–2023. Accessed 6 February 2024. https://www.ncbi.nlm.nih.gov/books/NBK1250/
Orphanet. Cystic fibrosis. Accessed 6 February 2024. https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=586

Page Last Updated

19/02/2024 16:30

Diseases of the Respiratory System