All about Cystic Fibrosis

Around 1 in 2,500 babies born in the United Kingdom each year will have cystic fibrosis, commonly referred to as CF. In total, there are around 10,800 people in the country with the genetic condition. It is the UK’s most common, life-limiting disease that’s recessively inherited and the median survival rate is currently 41.4 years, according to the Cystic Fibrosis Registry 2012.

What is cystic fibrosis?

CF is an autosomal recessive disorder, which means a person must inherit the faulty gene from both their mother and father. This gene affects how salt and water moves into and out of cells. If only one gene is inherited, the person is unaffected by cystic fibrosis but will be a carrier of the disorder. This disease mainly affects Caucasians and is uncommon in other ethnic groups. In the United States, for example, one in 29 white people are carriers of the gene mutation but only one in 90 Asian Americans carry it.

This inherited condition is life-limiting, and it affects many organs in the body. It’s mainly known for the effects it has on the lungs, but it also affects the reproductive system and the digestive system.

The condition causes thick, sticky mucus to build up in the lungs and digestive tract, which causes infections and problems with digestion. Since it affects the cells that are responsible for producing digestive juices, mucus and sweat, patients need daily care to stay healthy.

The defective gene causes these fluids to be thick and sticky instead of being slippery and thin. Rather than being able to act as a lubricant, bodily secretions will block passageways, ducts and tubes. This is especially true for the pancreas and lungs.

What are the causes of cystic fibrosis?

One in every 25 people carries the faulty cystic-fibrosis-causing gene. In order for a person to have cystic fibrosis, both of their parents need to have a copy of the faulty gene. They are, whether they know it or not, carriers of the disorder.

If both parents carry the gene, there is a one in four chance that their child will have cystic fibrosis. There is also a one in four chance they won’t inherit any faulty gene and won’t be a carrier, yet there’s a one in two chance they will inherit one copy of the gene and will be a carrier.

If only one parent is a carrier and the other has cystic fibrosis, there will be an equal chance of a resulting child being a carrier or having cystic fibrosis themselves.

What are the symptoms of cystic fibrosis?

The sticky mucus that builds in the lungs causes breathing difficulties and also increases a person’s risk of developing lung infections. In time, the lungs can stop working efficiently.

Mucus also blocks the pancreas, which means that enzymes that aid digestion can’t reach food in the gut. As a result, the majority of people who have cystic fibrosis can’t absorb nutrients efficiently and need to eat a high-calorie diet to avoid becoming malnourished.

Cystic fibrosis typically presents itself with:

• Recurring infections of the lungs.
• Persistent coughing with phlegm.
• Wheezing.
• Bronchiectasis (airway damage).
• Postnasal drip.
• Sinusitis.
• Shortness of breath.
• Poor growth and weight gain.
• Jaundice (yellowing of the whites of the eyes and the skin).
• Constipation.
• Bulky and greasy stools that have a foul smell.
• Diarrhoea.
• Meconium ileus (a bowel obstruction) in newborns, which may require surgery.

People with cystic fibrosis are also more likely to suffer from osteoporosis (thin and weak bones), diabetes, liver problems and male infertility.

How does cystic fibrosis affect the body?

Cystic fibrosis affects a number of bodily organs: the intestines, the pancreas and the lungs.

In the lungs, it causes thick mucus to accumulate in the bronchioles and bronchi, which makes it difficult for air to move in and out of the lungs.

In addition, cystic fibrosis affects how the body processes food and eliminates waste, which is known as maldigestion or malabsorption. This can lead to weight loss and malnutrition.

Cystic fibrosis also affects how good the body is at fighting off infections. This is due to abnormal levels of sodium in sweat as salty foods are not absorbed well. With a high sodium level, there is increased drainage of water from cells, which causes cell shrinkage as well as water retention. This makes cells more susceptible to infection.

Also, since sweating is affected, it can be difficult for people to cool off when it’s hot or when they’re doing exercise.

Cystic fibrosis and digestive issues

As previously mentioned, cystic fibrosis affects how the body processes and eliminates waste. In a normal body, the digestive system is primed to take nutrients from food and break them down into readily absorbed components in the bloodstream.

In a body with cystic fibrosis, the process is complicated because there is cell damage in the pancreas as well as other organs that are involved in the digestive system. The enzymes that are made by the pancreas don’t function well because they are damaged. These enzymes aid digestion and help break down food. The pancreas doesn’t produce enough enzymes in cystic fibrosis.

Another problem with the pancreas in cystic fibrosis is the production of insulin being impaired. Insulin is needed to aid the body’s use of glucose (sugar) for energy. This is why people with cystic fibrosis have a greater risk of developing diabetes.

Mucus in the GI (gastrointestinal) tract also builds up, which prevents proper digestion and nutrition absorption. This can lead to poor growth and malnutrition and makes it difficult for people to gain weight.

Cystic fibrosis and lung problems

There are a number of ways in which cystic fibrosis affects the lungs. The lungs make mucus that protects and cleans them. With cystic fibrosis, the CFTR proteins either don’t work or there aren’t enough of them.

These proteins work as a channel over cell membranes that produce digestive enzymes, tears, saliva, sweat and mucus. They also regulate other channels, including ones that transport sodium ions across the membranes of cells. This is a requirement for the proper function of the pancreas and lungs.

Without adequate CTFR proteins, the mucus in the lungs becomes too sticky or thick and can’t move from the lungs to the stomach. With too much mucus in the lungs, a person is more likely to develop infections like bronchitis and pneumonia.

Additionally, people with cystic fibrosis can suffer from pulmonary thromboembolism (blood clots), which can block the flow of blood in either or both lungs causing difficulty breathing and chest pain. Another related problem is pulmonary hypertension or high blood pressure in the ventricles. This can cause shortness of breath when lying or sitting down.

How is cystic fibrosis diagnosed?

In the United Kingdom, newborn babies are screened at birth with a heel prick test called the newborn blood spot test. This checks for multiple conditions, including cystic fibrosis. If the blood spot test comes up positive for cystic fibrosis, the baby will have further tests to confirm the diagnosis.

This will include:

• A genetic test either using saliva or blood. This looks for the faulty gene that causes the condition.
• A sweat test. This measures how much salt is in a person’s sweat. In cystic fibrosis, the salt levels are unusually high.

If a baby didn’t have the newborn screening, these tests can be used if cystic fibrosis is suspected.

A genetic test can also be used to determine whether a person carries the cystic fibrosis gene. If cystic fibrosis is in the family, then this might be useful for people who are thinking of starting a family.

How is cystic fibrosis treated?

Cystic fibrosis cannot be cured. However, there are a number of different treatments to control the symptoms it causes and make it easier to manage. Treatments can also be preventative to help reduce further complications.

A person who has been diagnosed with cystic fibrosis will have regular medical appointments and will often require treatment in hospital.

Medication to help the lungs and breathing

For the lungs, people will need to take a range of medications to prevent and treat problems. Medicines are inhaled, swallowed and injected.

Here are some of the medications people will take:

• Antibiotics – These are used to treat and prevent chest infections.
• Medicines to thin out lung mucus to make it easier to cough up.
• Medicines to reduce how much mucus is in the body.
• Bronchodilators that widen airways and make breathing easier.
• Steroids.

Airway clearance treatments

There will also be intensive physiotherapy needed to help get the lungs clear of mucus. Exercise is also recommended. Anything like football, swimming or running is great for keeping healthy and also for clearing mucus from the lungs.

Here are some different techniques that are taught for airway clearance:

• ACBT – Active cycle of breathing techniques. This is a cycle that a person does involving deep breaths, huffing, forced coughing and then relaxed breathing to stimulate the movement of mucus.
• Autogenic drainage. This is a breathing technique used to clear lung mucus.
• Airway clearance devices. These are handheld and combine air pressure with vibration and breathing techniques to remove mucus.

Diet and nutrition

People who have cystic fibrosis need to eat well as mucus can make digestion and nutrient absorption difficult. A person will often have an appointment with a dietician to help them avoid malnutrition and take in extra calories. Typically, people will need a high-calorie diet and will take supplements like vitamins and minerals as well as digestive enzymes to aid digestion.

Lung transplants

When cystic fibrosis is advanced and the lungs are no longer functioning properly, patients might be required to undergo a lung transplant. Though this is a serious operation, it can vastly improve the quality and length of a person’s life when they have severe cystic fibrosis.

What are the complications of cystic fibrosis?

When a person has cystic fibrosis, they have a higher risk of complications and other conditions.

These include:

• Liver problems.
• Brittle and weak bones (osteoporosis) – Medication called ‘bisphosphonates’ might be prescribed to help.
• Diabetes – This might require insulin and a carefully-controlled diet.
• Sinus infections and nasal polyps – Treatments for these include sinus flushes, antibiotics, antihistamines and steroids.
• Fertility problems – Females can bear children; however, men will need help from a fertility specialist if they want to have children.

People who have cystic fibrosis shouldn’t meet other people with the condition. This is because there is a significant risk of cross-infection as people with cystic fibrosis are often living with infections that they can pass on to others. For people suffering from cystic fibrosis, this can be very isolating as they are unable to meet fellow sufferers.

Outlook

Cystic fibrosis is ultimately fatal in that people with the condition usually die of lung disease and at a younger age than a healthy person. The condition worsens over time and can lead to serious infections or end up with the lungs not working very efficiently at all.

However, things have improved in terms of cystic fibrosis treatments and in survival rates over the last 40-50 years. Before the 1980s, around 50% of people who had cystic fibrosis did not reach 20 years of age. New research suggests that by 2025, the number of adults living with cystic fibrosis will grow by around 75%.

Based on statistics from 2017, the median predicted survival age of people with cystic fibrosis is increasing all the time. When people were born between 1993 and 1997, their predicted age of survival is 31. For those born between 2003 and 2007, it is 37, and for those born between 2013 and 2017, it is 44.

It’s worth bearing in mind that these figures are averages. Some people won’t live this long but others will live longer. Some people with the condition are living into their 70s, for instance.

Although CF is a progressive condition that requires daily treatment and care, those who have it can usually go to school or work. Nowadays, their quality of life is much better than in previous generations.

Useful support services

There are many useful support services available in the UK for people who have cystic fibrosis and their families.

Here are some useful services:

• The British Lung Foundation – This helps people who have the same condition connect with one another.
• CFK – Cystic Fibrosis Kids – Is a charity based in Hampshire in the UK, which is a support group for children and parents of children with cystic fibrosis.
• Cystic Fibrosis Care – This is a charity providing support and practical help to those with cystic fibrosis and their families.