Cystic fibrosis
Cystic fibrosis is a condition people are born with, in which every fluid the body makes comes out too thick.
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Medicines commonly prescribed for Cystic fibrosis
For informational purposes only. Always consult a doctor before using any medicine.
Dosage form: ORAL SOLUTION/SUSPENSION, 59.5 mgActive substance: ivacaftorManufacturer: Vertex Pharmaceuticals (Ireland) LimitedPrescription requiredDosage form: CAPSULE, -Active substance: multienzymes (lipase, protease etc.)Manufacturer: Viatris Healthcare LimitedPrescription requiredDosage form: PULMONARY INHALATION, 0.2400 gActive substance: salbutamolManufacturer: Laboratorio Aldo Union S.L.Prescription required
Cystic fibrosis is a condition people are born with, in which every fluid the body makes comes out too thick. Mucus in the airways will not clear and sits there; pancreatic juice never reaches the gut; sweat, the other way round, turns unusually salty. Hence the two things that stand out most: chest infections that never quite end, and a child who eats well and still does not gain weight. The underlying fault cannot yet be repaired, but almost everything around it has changed in recent years — there are now drugs that act on the cause itself, and the diagnosis no longer means what it meant a generation ago.
Why the mucus thickens
The blame lies with a single gene, the one that carries instructions for a protein that moves salts across the cell membrane. When that protein works poorly or is missing, water does not follow the salts, and every secretion — in the airways, the pancreas, the bowel, the bile ducts — comes out sticky. In the skin it works the other way: salt is not reabsorbed from sweat, so the sweat stays salty and the body keeps losing salt. That small detail is what the main diagnostic test is built on.
The condition is inherited, though not in the way most people picture it. The altered gene has to come from both parents at once. Someone with a single copy is a carrier: healthy, symptom-free, and usually unaware of it. Carriers are not rare — roughly one in a few dozen people of European descent.
If both parents are carriers, the odds in every pregnancy are these: about one child in four is born with the condition, two are healthy carriers, and one does not inherit the altered gene at all. One point is worth spelling out: this is not a queue but a coin tossed afresh each time. Two healthy children do not "use up" the risk for a third.
So if there has already been a case in your family or your partner's, it is worth talking to a genetics specialist before pregnancy. They will explain what carrier testing shows, what the options are when planning, and what testing during pregnancy can add. The conversation commits you to nothing, but it lets you make decisions with your eyes open.
How it shows up at different ages
The picture depends a great deal on age and on how severe a version of the gene fault someone happens to have.
In a newborn, the first sign often comes from the bowel: thick contents block it before birth, the baby passes no meconium in the first day or two, the abdomen swells and green vomiting starts. This needs urgent surgical care. Less often, it is jaundice that drags on that raises the question.
In babies and preschoolers, other things come to the fore:
- the child eats keenly but gains weight poorly and falls behind in height;
- bulky, greasy, shiny stools with a strong smell that are hard to flush away;
- a wet cough that never fully settles between colds, and repeated chest infections;
- skin that tastes salty, which parents notice when they kiss the child;
- sometimes the rectum prolapses on straining.
School-age children and teenagers add a blocked nose and nasal polyps, frequent sinus infections, breathlessness on exertion, and fingertips that broaden with curved nails. Where the gene fault is mild, all of this can be so faint that the diagnosis only arrives in adulthood, sometimes after a long hunt for the cause of bronchiectasis, repeated pancreatitis or male infertility.
How the diagnosis is confirmed
In many countries cystic fibrosis is part of routine newborn screening: a drop of blood is taken from the heel, one pancreatic marker is measured, and an abnormal result leads on to genetic testing. Programmes differ from country to country, and in some places no such screening exists, so the absence of a worrying phone call after the maternity ward does not rule the condition out.
From there, three things are used:
- the sweat test, which measures how much salt the sweat contains; this is the key test, it is painless, and it is done in babies too;
- genetic testing, which pins down exactly which gene variants a person carries — and the choice of modern drugs depends directly on that;
- a stool test for pancreatic enzymes, which shows whether the pancreas is keeping up with digestion.
Relatives of someone with the condition, and their partners, can have carrier testing. It answers one question only — whether the altered gene is there — and it is useful precisely when children are being planned.
Signs that call for help straight away
This condition has several situations where the clock runs in hours. Call an ambulance (112 is the single emergency number across Europe; elsewhere use your local number) or take the person to hospital if any of this appears:
- a newborn who passes no meconium in the first forty-eight hours, with a swollen abdomen and green vomiting;
- cramping pain low on the right side of the abdomen, vomiting and no stools: this is the bowel blocked by thick contents, and it happens in teenagers and adults as well;
- coughing up a noticeable amount of bright red blood;
- sudden sharp pain on one side of the chest with breathlessness that keeps building: air has escaped into the chest cavity;
- vomiting blood, or black stools;
- listlessness, confusion or drowsiness in hot weather, with vomiting or with a high fever: a lot of salt goes out in the sweat, so dehydration arrives sooner here and is tolerated worse, especially in small children.
Not an emergency, but not something to leave a month either: get in touch with your team over the next few days if the cough has stepped up, if the sputum has changed in colour or amount, if exercise has become harder, if weight has dropped or a fever has appeared. That is how a flare-up starts, and the earlier it is treated, the less the lungs suffer. A separate reason to call: new intense thirst together with passing a lot of urine.
What treatment involves
Treatment is lifelong and runs along several lines at once. It is led by a specialist centre where a lung doctor, a gut specialist, a physiotherapist, a dietitian and nurses work together.
- modulator drugs, which act on the faulty protein and push it to work better. This is the biggest change of recent years; they do not suit every gene variant, so genetic testing comes before the prescription;
- daily airway clearance — breathing techniques, purpose-made devices, drainage positions. Skipped days show here quickly;
- inhaled treatments that thin the sputum, and bronchodilators;
- antibiotics: inhaled ones to hold the chronic infection down, and oral or intravenous courses during flare-ups;
- pancreatic enzymes with every meal, snacks included, plus fat-soluble vitamins;
- eating with calories to spare, and extra salt in the heat and around exercise;
- where lung damage is far advanced, transplantation is discussed.
Not one of these points removes the cause entirely, but together they change the course of the illness so much that today's outlook bears no comparison with the old one.
What makes itself felt over the years
The body works under strain for years, and some of the trouble arrives later.
- cystic fibrosis-related diabetes: the pancreas suffers not only as a digestive organ, the risk climbs with age, and blood sugar is therefore checked regularly;
- damage to the liver and bile ducts, in some people with raised pressure in the portal vein;
- thinning of the bones, so that fractures follow small knocks;
- widened airways with infection settled in them;
- nasal polyps and chronic sinus disease.
Fertility deserves its own paragraph, because it collects needless fear. In almost all men with cystic fibrosis the vas deferens is absent or blocked, and natural conception is not possible. Sperm, however, are produced normally, and becoming a biological father is entirely realistic with assisted reproduction. In women fertility is reduced by thick mucus at the cervix, but pregnancy is quite possible and is planned together with the treating team.
What everyday habits actually change
Some things genuinely affect how the coming years go.
- move as much as you can: exercise is not merely healthy here, it helps shift sputum and works as part of the treatment;
- do not smoke or vape, and do not let anyone smoke nearby;
- keep vaccinations up to date on the schedule agreed with your doctor — an ordinary respiratory infection costs far more here than it does other people;
- wash your hands more often than most people bother to, and do not put off routine appointments;
- do not meet other people with cystic fibrosis face to face, however much you would like to: they pass resistant bacteria between them, and this is one of the few situations where company does direct harm. It is exactly why centres space such patients out across the clinic day;
- stay away from hot tubs, standing water, and handling compost or garden soil in dry weather — that is where the microbes and fungi come from that these lungs are especially open to.
Online consultation
Remotely it is easy to work through the questions that pile up between visits to the centre. If there is no diagnosis yet, the doctor will judge whether a child's symptoms fit the usual run of childhood illnesses or whether it is time for a sweat test, and will explain what a screening result means. If the diagnosis is already made, a screen is a convenient place to go over how to take the enzymes, what to do about weight that will not rise, how to build up exercise, what a changed cough is telling you and when to phone the centre, and to prepare in advance the questions about pregnancy and carrier testing. The urgent signs listed above are not handled through a screen: with those, go straight to hospital.
This material is for information only and does not replace medical advice.
Consult with a doctor about Cystic fibrosis
Discuss your symptoms and possible next steps with a doctor online.
Online doctors for Cystic fibrosis
Discuss your symptoms and possible next steps for Cystic fibrosis with a doctor online.
