Public and Patient Information about Cystic Fibrosis

What is Cystic Fibrosis?

Cystic fibrosis is a disease which affects multiple organs in the body, particularly the lungs and digestive system. It causes a build-up of a sticky mucus that can cause lung infections and difficulties digesting food. The impact of cystic fibrosis can vary from one person to another.

It is a condition some people are born with, and you cannot contract it after birth. It is caused by a faulty gene that disrupts the movement of salt and water in and out of cells in the body. It is a genetic disease and runs in families. In order to be born with cystic fibrosis, a child has to inherit a copy of the faulty gene from both of their parents. This can happen if both of their parents either have cystic fibrosis or both parents are carriers of the faulty gene. A carrier of cystic fibrosis does not have cystic fibrosis but simply carries the faulty gene.

A build-up of sticky mucus in the lungs can lead to problems breathing as well as lung infections. This can prevent the lungs from working properly and they get worse over time. Mucus also clogs the pancreas (an organ in the body that helps with digestion). Having a clogged pancreas can stop enzymes being released and reaching food in the gut where they are needed to help breakdown and digest food. Because of this most patients with cystic fibrosis cannot absorb all the nutrients from food properly and need to eat more calories to avoid malnutrition. Symptoms of cystic fibrosis include shortness of breath, coughing, chest infections, difficulty putting on weight, slow growth and changes in bowel habit. They can also develop diabetes, weak bones, liver problems and infertility in males.

How is Cystic Fibrosis identified?

All new-born babies in the UK & Ireland are now tested for cystic fibrosis. This is done by a “heel prick” test where a small sample of blood is taken from the baby's heel usually when they are 3-5 days old¹.
If the screening test suggests a child may have cystic fibrosis, they will need some additional tests to check they definitely have the disease. These tests are:
1) A sweat test - which measures the amount of salt in a person's sweat. In someone with cystic fibrosis the salt levels will be unusually high¹
2) A genetic test - this test involves a sample being taken of the person's blood or salvia to check for the faulty gene which causes cystic fibrosis¹
In children and adults who did not have the heel prick test at birth, both of these tests can be used to diagnose cystic fibrosis. The genetic test can also be useful to see if someone is a carrier of cystic fibrosis if there are known carriers or sufferers of the disease in the family.

Is there a cure for Cystic Fibrosis?

There is no known cure for cystic fibrosis. Treatments are however available that can help to improve symptoms and make the condition easier to live with. People with cystic fibrosis may need to take different types of medicines in order to treat and prevent lung problems. It is important that patients keep active and frequently clear their airways to help reduce the build-up of mucus.

The following treatments may be taken by patients:
Lungs: Inhalers, nebulisers, antibiotics (sometimes in hospital), physiotherapy, sinus rinses or oxygen.
Gastrointestinal: High calorie diet, enzymes, additional food through tubes (PEG), multivitamins, laxatives and anti-reflux medications.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies

Cystic fibrosis tends to get worse over time and lung function reduces during the patient’s lifetime. If a patient gets a serious lung infection or their lungs stop working altogether, this can be fatal. However, patients with cystic fibrosis are living longer due to advances in treatment and life expectancy of children born today is more than 50 years.

Where can I seek further information on Cystic Fibrosis?

Support is available to help people with cystic fibrosis live as independently as possible and to give them the best achievable quality of life. If you or your child has cystic fibrosis it can be helpful to reach out to one of the cystic fibrosis charities for support. Furthermore, if you or your child has been given a treatment to help alleviate symptoms associated with cystic fibrosis, you can find the patient information leaflet for a medicine inside the drug packaging itself, or using the following links below for your country:
Great Britain: https://www.medicines.org.uk/emc
Northern Ireland: https://www.emcmedicines.com/en-GB/northernireland/
Ireland: https://www.medicines.ie/

References:
1. NHS.uk website overview of Cystic Fibrosis. https://www.nhs.uk/conditions/cystic-fibrosis/ Accessed 7th October 2022