Cystic Fibrosis (CF)

Overview

Cystic fibrosis is a progressive, inherited disease characterized by persistent lung infections. As the disease worsens, a patient's mucus becomes thick and sticky, making it harder to breathe.

The mucus can also clog the airways and trapping germs, leading to respiratory infections, inflammation, or respiratory failure.

Patients with cystic fibrosis must minimize contact with germs to stay as healthy as possible.

According to the Cystic Fibrosis Foundation Patient Registry, more than 30,000 Americans are living with cystic fibrosis, and 1,000 new cases are diagnosed each year. Approximately 75 percent are diagnosed by the age of two.

Cystic fibrosis causes

Cystic fibrosis occurs when the cystic fibrosis transmembrane conductance regulator gene (CFTR) mutates. The CFTR gene is responsible for moving water in and out of the body’s cells. When the mutation occurs, your mucus becomes thicker and stickier than it should be. This mucus can build up in the intestines, pancreas, liver, or lungs and increase the amount of salt in your sweat.

To inherit cystic fibrosis, a child must inherit one copy of the CFTR gene from each parent. If they only inherit one copy of the gene, they will not develop the disease, but they will be a carrier. Carriers can pass the gene down to their children.

Cystic fibrosis risk factors

Cystic fibrosis runs in families, so if you have a family history of the disease, you are at risk of developing it.

Cystic fibrosis is most common in Caucasian people of Northern European ancestry.

Cystic fibrosis symptoms

Symptoms associated with cystic fibrosis vary from person to person. While some patients have symptoms from birth, others do not experience symptoms until later in life.

Symptoms of cystic fibrosis include:

• Skin that tastes salty.
• Persistent coughing with phlegm.
• Frequent lung infections, such as pneumonia or bronchitis.
• Shortness of breath.
• Inability to gain weight.
• Greasy, bulky stools or difficulty having bowel movements.
• Infertility in men.

Cystic fibrosis complications

Cystic fibrosis can negatively affect your body's respiratory, digestive, and reproductive systems and other organs.

Respiratory system complications include:

• Damaged airways. When the airways become scarred and abnormally widen from a chronic lung condition, it is harder to move air into and out of the lungs and clear mucus from the airways.
• Chronic respiratory infections, such as pneumonia, bronchitis, or sinus infections. Thick mucus in the lungs and sinuses produce the ideal environment for bacteria and fungi to thrive and lead to an infection. 
• Nasal polyps. Nasal polyps can develop from swelling and inflammation in the nose.
• Coughing up blood. When the airways become damaged and infected, you may cough up blood.
• Pneumothorax. When air leaks into the area that separates the lung from the chest wall, all or part of your lung may collapse. This can make it difficult to breathe and cause chest pain. 
• Respiratory failure. Cystic fibrosis can severely damage lung tissue, stop working, and potentially lead to respiratory failure. Respiratory failure is life-threatening.
• Acute exacerbations. An acute exacerbation is a sudden worsening of symptoms such as coughing with mucus and trouble breathing. Generally, acute exacerbations can be treated with antibiotics.
• Digestive and reproductive issues can be associated with cystic fibrosis as well.

Cystic fibrosis diagnosis

Cystic fibrosis is an inherited disorder. If you have cystic fibrosis, you received one defective CF gene from each parent. 

If you have one CF gene, you are a carrier. If you have a child with another CF carrier, your chance of having a child with CF is 25 percent. Fifty percent of children conceived from parents who were both carriers will become carriers for cystic fibrosis but will not have it.

Diagnosing cystic fibrosis begins with a newborn screening at birth. Most cases of cystic fibrosis are diagnosed by two years old.  Patients not diagnosed early may be diagnosed as adults. Your doctor will order a sweat test and genetic test to confirm a diagnosis.

While most people are diagnosed with CF relatively quickly, some patients may need further testing.

Cystic fibrosis treatment

There is not a cure for cystic fibrosis. The goal of treatment is to help relieve symptoms and reduce your chance of developing complications.

Treatments may include:

Medications

• Antibiotics. Antibiotics may be needed to treat or prevent lung infections. 
• Mucus-thinning medications. Some medications help thin out or make your mucus less sticky. These medications help lung function and help you cough the mucus up to clear the lungs.
• Nonsteroidal anti-inflammatory medications (NSAIDs). NSAIDs work to relieve pain or fever caused by your condition.
• Bronchodilators. A bronchodilator can increase airflow by relaxing the muscles around the airways.

Surgery

• Bowel surgery. You may need emergency bowel surgery if you have blocked bowels.
• Feeding tube. A feeding tube can help your or your child get the nutrition needed from food.
• Lung transplant. If you or your child has severe breathing issues, a lung transplant may be an option.

Other treatment options

• Chest therapy. Your doctor may recommend chest therapy to help loosen the mucus in the lungs. You may need therapy one to four times per day to help you cough up the mucus. Chest therapy can be performed manually or with mechanical devices such as a chest clapper or inflatable vest.

When to Seek Care

Schedule a consultation with a Pulmonologist or Family Practice Physician if your child is experiencing symptoms of CF or if someone in your family has CF. 

You or your child will need consistent doctor visits every three months. If the symptoms are getting worse, schedule a consultation with your doctor.
Seek emergency medical care if you cough up blood, have difficulty breathing, experience chest pain, or have severe stomach pain.