Everything you need to know about cystic fibrosis

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Cystic fibrosis is a hereditary disease that affects the lungs and digestive system. The body peou to produce thick and sticky mucus that can clog the lungs and obstruct the pancreas.

Cystic fibrosis (CF) can be life-threatening, and people with the condition tend to have a shorter-than-normal life span.

Sixty years ago, many children with CF died before reaching elementary school age. However, advances in treatment mean that people with CF often live into their 30s, 40s, and beyond.

There is currently no cure for CF. It affects some 30,000 people in the United States with around 1,000 new cases diagnosed each year.

Of these new diagnoses, 75 percent are made in children under the age of 2 years.

Fast facts on cystic fibrosis

Here are some key points about cystic fibrosis. More detail is in the main article.

  • Cystic fibrosis (CF) involves the production of mucus that is much thicker and more sticky than usual.
  • It mainly affects the lungs and digestive system.
  • CF is a hereditary condition that occurs in a child when both parents have the defective gene.
  • All newborns in the U.S. are screened for CF.
  • There is no cure, but good nutrition and taking steps to thin mucus and improve mucus expectoration can help.

What is cystic fibrosis?

Cystic fibrosis mainly affects younger children. People with cystic fibrosis can still lead an active life when the condition is properly managed.

CF is a genetic disease that mainly affects the lungs and digestive system, but it can result in fatal complications such as liver disease and diabetes.

The defective gene responsible for CF leads to the creation of thicker, stickier mucus than is usual. This mucus is difficult to cough out of the lungs. This can make breathing difficult and lead to severe lung infections.

The mucus also interferes with pancreatic function by preventing enzymes from properly breaking down food. Digestive problems result, potentially leading to malnutrition.

This thickening of mucus can also cause male infertility by blocking the vas deferens, or the tube that carries the sperm from the testes to the urethra.

CF is serious, with potentially life-threatening consequences. The most common cause of death in people with CF is respiratory failure.

Symptoms

The most common symptoms of CF are:

  • salty-tasting skin
  • persistent coughing
  • shortness of breath
  • wheezing
  • poor weight gain in spite of excessive appetite
  • greasy, bulky stools
  • nasal polyps, or small, fleshy growths found in the nose

CF’s obstruction of the lungs increases the risk of lung infections such as bronchitis and pneumonia, as it creates optimal conditions for the growth of pathogens.

Obstruction in the pancreas can lead to malnutrition and poor growth. It has also been associated with an increased risk of diabetes and osteoporosis.

Treatment

There is currently no cure for CF. Treatment can manage the symptoms of the disease, however, and improve quality of life. Symptoms can vary and treatment plans will be individualized.

Airway clearance

It is crucial for people with CF to get rid of mucus from their lungs to allow clear breathing and minimize lung infections.

Airway clearance techniques (ACT) can help people with CF to loosen and get rid of mucus from their lungs.

An example of ACT would be postural drainage and percussion. A therapist claps the patient’s chest and back while they sit, stand, or lie in a position that should help to free up mucus.

Inhaled medication is effective at reaching the airways and commonly used. The medication can be given by aerosol or as a metered dose inhaler. These medications can thin mucus, kill bacteria, and mobilize mucus to improve airway clearance.

Antibiotics are an important part of regular care. These can be taken orally, intravenously, or through inhalation.

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Other drugs, such as ibuprofen and azithromycin, have been found to preserve and improve lung function, and are now considered to be a part of standard therapy for people with CF.

People with CF can also help reduce their risk of lung infection by taking the following steps:

  • washing the hands frequently
  • getting a flu shot every year
  • not smoking and avoiding second-hand smoke
  • avoiding unnecessary contact with people who have colds or other contagious illnesses

Other forms of treatment

There are alternative methods of managing CF that do not involve the airways.

Implanted devices can allow long-term access to the bloodstream for the frequent and regular administration of drugs. They can make management of a chronic condition like CF more efficient and less intrusive.

CF transmembrane conductance regulator (CFTR) modulators are newer medications that target the faulty CF-causing gene. They allow for proper flow of salt and fluids on the surface of the lungs, thinning the thick mucus that people with CF usually have built up in their lungs.

Two CFTR modulator brands are currently approved by the Food and Drug Administration (FDA). These are Kalydeco and Orkambi. They are prescribed for children with 10 different mutations of the CF-causing gene.

Kalydeco may be prescribed from the age of 2 years onwards, and Orkambi at 6 years.

Nutritional therapy for digestive symptoms

As CF can affect digestive function and nutrient absorption, people with CF should discuss their diet with their doctor. A nutritionist or dietitian may help with the management of digestive symptoms.

A different kind of diet or additional supplements, such as pancreatic enzyme supplements, salt, or vitamins, may be needed to balance the absorption of nutrients.

CF can lead to impaired growth. A high-calorie, high-fat diet is essential for normal growth and development in children with CF. It can help adults to maintain optimal health.

Good nutrition is vital, as individuals with CF need to maintain a robust defense against an increased risk of lung infection.

Causes

CF is an inherited condition. For someone to have CF, they need to inherit the defective gene from both of their parents.

The defective gene contains codes for producing a protein that controls the flow of salt and water outside of the organs, including the lungs and the pancreas.

In CF, the balance of salt is disturbed, leading to too little salt and water outside of the cells and the production of thicker-than-normal mucus.

People with only one copy of the defective gene are called carriers. They do not have the condition or its symptoms. To have the disease, both parents must be carriers.

If two carriers have a child, there is a:

  • 25 percent, or 1 in 4, chance the child will have CF
  • 50 percent, or 1 in 2, chance the child will be a carrier but will not have CF
  • 25 percent, or 1 in 4, chance the child will not be a carrier and will not have CF

Over 10 million Americans carry the CF gene and are unaware.

Diagnosis

All newborns in the U.S. are screened for CF by testing a small blood sample or samples. This can indicate that a baby might have a health condition and require further investigation.

CF is usually diagnosed through a sweat test. Sweat is collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride is an indication of CF.

Genetic tests can also be carried out by analyzing cheek cells or a blood sample. These tests are mainly used to find out if a person carries the CF gene, but they can also be used to confirm a CF diagnosis following an unclear sweat test result.

There are over 1,700 known mutations of the CF gene. As a result, most genetic tests for the condition only screen for the most common mutations.

Seventy-five percent of people with CF are diagnosed by the age of 2 years.

Outlook

The median predicted age of survival for people with CF is currently in the early 40s. Life expectancy is strongly affected by the severity of the disease, age of diagnosis, and the type of CF gene mutation.

With routine therapies and healthful lifestyles, most people with CF can lead active lives.

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