Cystic fibrosis

What is it?

Cystic fibrosis (CF) is a rare inherited condition. The body makes thick, sticky mucus that can affect the lungs and the digestive system and makes infections more likely. It mostly affects the lungs, the pancreas, the liver, the gut, the sinuses and the sex organs.

A child gets CF only when both parents pass on an altered gene. Someone who gets the gene from just one parent usually has no symptoms but is a carrier. When two carriers have a child, there is a 1 in 4 chance that the child has CF. If you have CF or are a carrier, you can ask for genetic counselling before having a baby.

The first signs

Most babies are now found through newborn screening.

• a cough that does not go away and brings up mucus;
• wheezing and shortness of breath;
• frequent chest and sinus infections;
• large, greasy poos that are hard to flush, constipation, tummy pain or bloating;
• slow growth in children, or weight loss in adults;
• very salty sweat.

Some people have a milder form that does not show until the teenage years or early adulthood.

How doctors find out

All babies are checked for cystic fibrosis with the newborn blood spot test. If it suggests CF, a sweat test measures the salt in the sweat, which is usually high in CF. Older children and adults have a blood test and then a sweat test. Relatives of someone with CF, and partners of carriers, can have a test to see if they are carriers.

Current treatment

Care from a specialist CF team combines CFTR modulator medicines, airway-clearing medicines and physiotherapy, antibiotics for infections and a high-energy diet, with a lung transplant for some.

Will it get worse?

CF needs care for life and can shorten life. Over time it can lead to lung damage and other problems such as diabetes, liver disease, weak bones and difficulty having children, and many of these can be treated. Thanks to newer treatments many symptoms can be managed, and many people diagnosed today are expected to live well past middle age.

Medicines: what helps, and what to watch for

CFTR modulators are medicines that lessen the effect of the altered gene, so the lungs work better. Other medicines open up the airways or help clear mucus, antibiotics treat infections, and steroids calm swelling in the airways. Devices such as inhalers and specially designed masks can help with breathing and clearing mucus.

Good to know:

• you are cared for by a CF team, usually based at a larger hospital, with specialist doctors and nurses, a physiotherapist and a dietitian;

Exercise and therapy help too

• a physiotherapist can teach you ways to improve your breathing and posture, which helps clear mucus from your lungs;
• staying active also helps clear mucus;

A lung transplant, for some people

If other treatments stop working, some people may in time need a lung transplant. It is not suitable for everyone.

Is there a cure?

Not yet. Treatments have improved greatly in recent years, and gene editing shows promise.

See the 198 trials you can join

Median survival

Median survival age at birth about 46 years (males) and 41 years (females), UK data 2011–2015

Measured in: People in the UK Cystic Fibrosis Registry, 2011–2015 (10,428 people); survival age counted from birth

Sources

Written in plain words by Frontlight from these pages:

1. NHS: Cystic fibrosis
2. MedlinePlus: Cystic Fibrosis
3. Journal of Cystic Fibrosis: Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: A longitudinal study using UK patient registry data