Cystic fibrosis

Symptoms

The build-up of sticky mucus in the lungs can cause breathing problems and increases the risk of lung infections. Over time, the lungs may stop working properly.

Mucus also clogs the pancreas (the organ that helps with digestion), which stops enzymes reaching food in the gut and helping with digestion.

This means most people with cystic fibrosis don't absorb nutrients from food properly and need to eat more calories to avoid malnutrition.

Symptoms of cystic fibrosis include:

• recurring chest infections
• wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
• difficulty putting on weight and growing
• yellowing of the skin and the whites of the eyes (jaundice)
• diarrhoea, constipation, or large, smelly poo
• a bowel obstruction in new born babies (meconium ileus) – surgery may be needed

People with the condition can also develop a number of related conditions, including diabetes, thin, weakened bones (osteoporosis), infertility in males, and liver problems.

Causes

Cystic fibrosis is a genetic condition. It's caused by a faulty gene that affects the movement of salt and water in and out of cells.

This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways – particularly the lungs and digestive system.

A person with cystic fibrosis is born with the condition. It's not possible to "catch" cystic fibrosis from someone else who has it.

Diagnosis

If the screening test suggests a child may have cystic fibrosis, they'll need these additional tests to confirm they have the condition:

• a sweat test – to measure the amount of salt in sweat, which will be abnormally high in someone with cystic fibrosis
• a genetic test – where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

These tests can also be used to diagnose cystic fibrosis in older children and adults who didn't have the newborn test.

The genetic test can also be used to see whether someone is a "carrier" of cystic fibrosis in cases where the condition runs in the family.

This test can be important for someone who thinks they may have the faulty gene and wishes to have children.

Treatment Options

There's no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

Regular appointments to monitor the condition are needed and a care plan will be set up based on the person's needs.

People with cystic fibrosis are treated by a team of healthcare professionals. Sometimes the condition will require treatment in hospital.

Medicines for lung problems

People with cystic fibrosis may need to take different medicines to treat and prevent lung problems. These may be swallowed, inhaled or injected.

Medicines for lung problems include:

• antibiotics to prevent and treat chest infections
• a combination of 3 medicines (Kaftrio) to treat the root cause of cystic fibrosis in people age 12 and over
• medicines to make the mucus in the lungs thinner and easier to cough up – for example, dornase alfa, hypertonic saline and mannitol dry powder
• medicine to help reduce the levels of mucus in the body – for example, ivacaftor taken on its own (Kalydeco) or in combination with lumacaftor (Orkambi, but this is only available on compassionate grounds if people fulfil several criteria set by the manufacturer)
• bronchodilators to widen the airways and make breathing easier
• steroid medicine to treat small growths inside the nose (nasal polyps)

It's also important that people with cystic fibrosis are up-to-date with all routine vaccinations and have the flu jab each year once they're old enough.

Exercise

Any kind of physical activity, like running, swimming or football, can help clear mucus from the lungs and improve physical strength and overall health.

A physiotherapist can advise on the right exercises and activities for each individual.

Airway clearance techniques

A physiotherapist can also teach techniques to help keep the lungs and airways clear.

These include:

• the active cycle of breathing techniques (ACBT) – a cycle of deep breathing, huffing, coughing and relaxed breathing to move mucus
• autogenic drainage – a series of gentle controlled breathing techniques that clear mucus from the lungs
• airway clearance devices – handheld devices that use breathing techniques, vibration and air pressure to help remove mucus from the airways (for example, a positive expiratory pressure, or PEP, device)

Dietary and nutritional advice

Eating well is important for people with cystic fibrosis because the mucus can make it difficult to digest food and absorb nutrients.

The pancreas often doesn't work properly, making it even harder to digest food.

A dietitian will advise on how to take in extra calories and nutrients to avoid malnutrition.

They may recommend a high-calorie diet, vitamin and mineral supplements, and taking digestive enzyme capsules with food to help with digestion.

Lung transplants

In severe cases of cystic fibrosis, when the lungs stop working properly and all medical treatments have failed to help, a lung transplant may be recommended.

A lung transplant is a serious operation that carries risks, but it can greatly improve the length and quality of life for people with severe cystic fibrosis.

Complications

People with cystic fibrosis also have a higher risk of developing other conditions.

These include:

• weak and brittle bones (osteoporosis) – medicines called bisphosphonates can sometimes help
• diabetes – insulin and a special diet may be needed to control blood sugar levels
• nasal polyps and sinus infections – steroids, antihistamines, antibiotics or sinus flushes can help
• liver problems
• fertility problems – it's possible for women with cystic fibrosis to have children, but men won't be able to father a child without help from fertility specialists (see a doctor or fertility specialist for more advice)

People with cystic fibrosis should not meet face to face. This is because they're more likely to spread infections, and more vulnerable to complications if they do develop an infection.