Cystic Fibrosis

Written by Abdul Wadood Mohamed and Matthew Solan | Published on July 25, 2012
Medically Reviewed by George Krucik, MD

Overview

Cystic fibrosis is a recessive genetic disorder that can lead to serious complications or even put your life at risk. It may cause severe problems in the lungs, pancreas, liver, and intestine. It is an inherited disorder, and affects cells that produce mucous, sweat, and digestive juices.

A faulty gene causes your mucous to become thicker and stickier and this clogs up glandular secretions. The damage usually affects the lungs and the pancreas, and it is a life-threatening disorder.

According to Kumar and Clark (Sixth Edition), previously people with cystic fibrosis would not live past the age of 20. However, in recent years, better methods of checking and managing complications of the disease allow patients to live into their 50s or even longer.

What Causes Cystic Fibrosis?

In cystic fibrosis, a dysfunctional gene results in viscous mucous in different glandular organs through out your body. The intestines, pancreas, liver, testis, ovaries, and lungs are some of the organs primarily affected. In addition, it causes higher levels of salt in your sweat.

The damaged gene is passed on to the child from the parents. In order to have the disease, the child must receive two affected recessive genes—one from each parent. If your child receives only one recessive gene, he or she will not develop cystic fibrosis, but will probably become a carrier and pass the gene to his or her own children.

Who Is at Risk for Developing Cystic Fibrosis?

Cystic fibrosis is most commonly seen in white people of northern European ancestry. However, it is known to occur in all races.

It also runs in families because it is an inherited disorder.

What are the Symptoms of Cystic Fibrosis?

The severity of cystic fibrosis may cause signs and symptoms to vary from one child to another. As time passes, the disease and its complications may improve or worsen. The age of onset of symptoms also may vary from child to child. For some, symptoms may appear at infancy, whereas, for other children, symptoms may not begin until after puberty or even later in life.

One of the first signs is a strong salty taste to the skin. This is the result of higher levels of salt present in the sweat. Parents of children with cystic fibrosis have mentioned tasting this saltiness when kissing their children.

Other signs and symptoms of cystic fibrosis result from complications that affect lungs, pancreas, liver, and other glandular organs.

Respiratory Problems

Continuous cough, wheezing, recurrent pneumonia and sinusitis, are some of the respiratory complications of cystic fibrosis. This is due to thick and viscous mucous, which chokes the trachea or bronchi that carry the air through the lungs. Other symptoms related to the lungs and sinuses include fatigue or nasal congestion caused by nasal polyps.

Digestive Problems

Channels that carry the enzymes produced by the pancreas to the small intestine can be blocked by thick mucous. Without these digestive enzymes, your intestine can’t absorb necessary proteins, carbohydrates, fats, oils, and minerals from your food. Among other complications, this produces oily stools that smell bad, slows down growth, makes the abdomen bigger from constipation, and causes nausea, loss of appetite, and intestinal blockage particularly in newborns in the first 24 to 48 hours after birth.

Later in Life

Symptoms that may appear later in life include recurrent swelling and tenderness of the pancreas (also known as pancreatitis), or respiratory symptoms.

How is Cystic Fibrosis Diagnosed?

Apart from clinical signs of cystic fibrosis, various tests are available for diagnosis. These include:

Blood Tests

They are helpful when searching for genes responsible for causing cystic fibrosis. Other tests performed for diagnosis include:

Immunoreactive Trypsinogen (IRT)

IRT is a standard newborn screening test and a high level of IRT suggests possible cystic fibrosis. However, further testing is required to confirm such a diagnosis. The IRT has become a routine test within the past decade.

Sweat Chloride Test

The sweat chloride test is the most commonly used test for cystic fibrosis. It looks for increased levels of salt in the patients sweat. The test is performed by using a chemical that makes the skin sweat when triggered by a weak electric current. It determines if the sweat is saltier than normal.

Genetic Testing

In a situation where the sweat test results are inconclusive, checking DNA in the blood or saliva can point out specific mutations on the gene that cause cystic fibrosis.

Sputum Tests

If you or your child has a serious lung infection, a sample of mucous may be taken by the doctor to test for germs that are present and what antibiotic they would be sensitive to.

Organ Function Tests

Specific tests for specific organs may be conducted to check the function of the liver and pancreas during the course of treatment.

Other Tests

Chest X-Ray

This is useful in revealing over inflation of the lungs due to blockages in the respiratory passageways.

Computed Tomography (CT) Scans

CT scans produce images by using a combination of X-ray views taken from many different directions. Together, these images can be used to produce detailed images of internal structures (like the liver and pancreas) to help assess the extent of the disease in cystic fibrosis.

Lung Function Test

Lung function tests measure the different characteristics of lungs. This can help determine the lung size, how much air can be inhaled or exhaled, the respiratory rate, and how well the lungs diffuse oxygen into the blood. The values of these tests would be altered in Cystic Fibrosis.

How is Cystic Fibrosis Treated?

To date, there are no treatments available for a total cure of cystic fibrosis. However, many options are available that may help alleviate symptoms and decrease complications. Here is a list of the most common ones:

Medications Used to Treat Cystic Fibrosis

Antibiotics

Antibiotics may be given as a method cure or to prevent future infections of the lungs. They are available in many forms and may be given as pills or as intravenous medication.

Mucus-Thinning Drugs

These drugs make the mucus less sticky and help you to cough up the mucous. This significantly improves lung function.

Bronchodilators

These substances help increasing airflow to the lungs. They may be delivered using an inhaler or a nebulizer. They do this by relaxing the muscles around your bronchial tubes.

Surgical and Other Procedures

Bowel Surgery

Emergency surgery may be necessary to relieve a blockage in the bowels.

Feeding Tube

Cystic fibrosis may interfere with digestion, and prevent absorption of nutrients from food. A feeding tube to deliver extra nutrition can be passed through the nose or inserted directly into the stomach by surgery.

Lung Transplant

A lung transplant may be necessary if you or your child has suffered severe breathing problems. Both lungs need to be replaced. This may lead to many serious problems after surgery, most commonly, pneumonia.

Home Care

Avoid Exposure to the Following

Smoke, pollen, and mold exacerbate cystic fibrosis and you should try to avoid contact as much as possible.

Vaccinations and Medications

The influenza and pneumonia vaccination schedules should be strictly maintained. Non-steroidal anti-inflammatory medications like ibuprofen may help reduce any pain and fever associated with cystic fibrosis.

Support Yourself

Share your experiences with a friend or a support group. Therapy and dialogue is an important way to cope with any medical condition. Read and learn all you can about the disease so you can help yourself or your baby with the disease.

Mucous Removal

Thick mucous needs to be removed from the lungs of people suffering with cystic fibrosis. By clapping with cupped hands along the sides of the chest of the patient (pummeling) and placing the patient’s head over the edge of the bed, gravity can be used to help clear the secretions. Mechanical devices may also be used to clear these chest secretions. These include:

  • Chest Clapper: A device that can imitate the effects of clapping with cupped hands along the sides of the chest. 
  • Inflatable Vest: This vest-like device loosens mucous in the lungs by pulsating at high frequency to help remove chest mucous.

How Can Cystic Fibrosis Be Prevented?

Genetic testing should be performed for couples who suffer from cystic fibrosis, or have relatives that suffer from the disease. A child’s risk can be determined by testing samples of blood or saliva. Tests can also be performed on pregnant women and can give them the choice if they would like to continue the pregnancy. A genetic counselor may be required to assess the psychological impact the tests may carry.

Long-Term Outlook

Earlier screening processes, better treatment, and access to health care all can improve the long-term outlook for cystic fibrosis. According to a study conducted by the Cystic Fibrosis Foundation in 2008 published in Pediatric Respiratory Reviews, the median age for survival has gone up from six months in 1959 to a median age of 37.8 in 2008. (PRR)

Was this article helpful? Yes No

Thank you.

Your message has been sent.

We're sorry, an error occurred.

We are unable to collect your feedback at this time. However, your feedback is important to us. Please try again later.

Article Sources:

More on Healthline

Beyond Back Pain: 5 Warning Signs of Ankylosing Spondylitis
Beyond Back Pain: 5 Warning Signs of Ankylosing Spondylitis
There are a number of potential causes of back pain, but one you might not know about is ankylosing spondylitis (AS). Find out five warning signs of AS in this slideshow.
Timeline of an Anaphylactic Reaction
Timeline of an Anaphylactic Reaction
From first exposure to life-threatening complications, learn how quickly an allergy attack can escalate and why it can become life threatening.
Numbness, Muscle Pain and Other RA Symptoms
Numbness, Muscle Pain and Other RA Symptoms
The symptoms of RA are more than just joint pain and stiffness. Common symptoms include loss of feeling, muscle pain, and more. Learn more in this slideshow.
Advertisement
Advertisement
Advertisement