Cystic fibrosis: What you need to know

Cystic fibrosis is an inherited illness which affects the lungs and digestive system. The body develops thick and sticky mucus that can block the pancreas and clog the lungs.

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

Sixty years ago, many CF children died before they reached elementary school age. Advances in care, however, mean people with CF still stay in their 30s, 40s and beyond.

CF isn’t currently being cured. It affects approximately 30,000 people in the U.S., with about 1,000 new cases diagnosed each year.

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

Important facts about 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?

A child with 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 disorder that primarily affects the lungs and digestive system, but it can lead to fatal complications such as liver disease and diabetes.

The defective gene responsible for CF results in the development of thicker, more sticky mucus than normal. It’s hard to cough the mucus out of the lungs. It can find it hard to breathe and lead to serious lung infections.

The mucus also interferes with pancreatic function by preventing the proper breaking down of food by the enzymes. The consequence is digestive problems which may lead to malnutrition.

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

CF is serious and has potentially life-threatening consequences. For people with CF the most frequent cause of death 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 lung obstruction increases the risk of lung infections such as bronchitis and pneumonia, as it creates optimal conditions for pathogens to grow.

Pancreatic obstruction can lead to malnutrition, and poor growth. It was also linked to an increased risk of diabetes and osteoporosis.

Treatment

There is currently no cure for CF. However, treatment can manage the disease ‘s symptoms, and improve the quality of life. Symptoms can vary and plans for treatment will be individualised.

Airway clearance

People with CF need to get rid of mucus from their lungs to allow clear respiration and minimize lung infections.

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

A Postural Drainage and Percussion will be an example of ACT. A therapist claps the chest and back of the patient while they are sitting, standing or lying in a position that should help release mucus.

Medication inhaled is effective at entering the airways, and is widely used. The medication can be administered by aerosol or inhaled as a metered dose. These medications can help thin the mucus, kill bacteria, and activate mucus to increase clearance of the airways.

Antibiotics are a significant part of daily treatment. These may be given by mouth, intravenously, or by inhalation.

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

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

  • 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 presently approved by the Food and Drug Administration ( FDA). These are Kalydeco and Orkambi. They are prescribed for infants with 10 different CF-causing gene mutations.

Kalydeco may be prescribed from age 2 and Orkambi may be prescribed at age 6.

Because 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.

Another form of diet or additional supplements, such as supplements with pancreatic enzymes, salt, or vitamins, may be required to improve nutrient absorption.

CF can make growth impaired. A high-calorie , high-fat diet is essential for normal growth and development in children with CF. It will motivate adults to keep their health optimum.

Good nutrition is vital since individuals with CF need to maintain a robust defense against increased risk of infection with the lungs.

Causes

CF is an inherited disorder. For somebody to have CF, both of their parents must inherit the defective gene.

The defective gene contains codes that control the flow of salt and water outside the organs, including the lungs and pancreas, to produce a protein.

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.

Those with a single copy of the defective gene are considered carriers. They do not have the condition or its symptoms. Both parents must be carriers for having the disease.

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

CF testing is provided to all newborns in the U.S. by evaluating a small blood sample or sample. It may mean a baby may have a health problem and need further examination.

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

Genetic research can also be performed by examining cheek cells or a drop of blood. These tests are primarily used to decide whether a person is carrying the CF gene, but they can also be used to confirm a diagnosis of CF following an ambiguous sweat test.

There are more than 1700 documented CF gene mutations. As a result, most genetic tests only screen for the most common mutations to the disease.

Seventy-five per cent of CF patients are diagnosed at age 2.

Outlook

The predicted median age of survival for people with CF is in the early 40s today. The severity of the disease, the age of diagnosis and the type of CF gene mutation greatly affect life expectancy.

Most people with CF can lead active lives, with routine therapies and healthy lifestyles.

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