What Is Cystic Fibrosis?

Every May, the cystic fibrosis (CF) community comes together to celebrate Cystic Fibrosis Awareness Month – a month dedicated to spreading awareness about CF and inviting people to support the CF community’s mission of finding a cure for this disease.

Cystic fibrosis is an inherited (genetic), progressive disease that causes the mucus in the body to become thick and sticky, creating issues for the lungs, pancreas and other organs.

“People with CF have a faulty protein that affects the body’s cells, tissues and the glands that make mucus and sweat,” says Jennifer Logan, MD, pediatric pulmonologist with Lehigh Valley Reilly Children’s Hospital. “Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues. However, people who have cystic fibrosis make thick sticky mucus that can build up and lead to blockages, damage or infections in the affected organs.”

Because of the thicker mucus, CF can cause:

• Airway blockages
• Difficulty breathing
• Increased rate of infections
• Inflammation
• Lung damage
• Malnutrition
• Respiratory failure

According to the Cystic Fibrosis Foundation (CFF), there are close to 40,000 children and adults living with CF in the United States and approximately 1,000 new people diagnosed with CF each year. From diagnosis to treatment, here’s what you need to know about CF.

There are several ways cystic fibrosis is diagnosed, however, these are the most common:

• Newborn screening. Most people with CF were diagnosed with this condition at birth during their newborn screening. If the screening reveals there’s a high level of an enzyme called immunoreactive trypsin in the infant’s blood, the infant will undergo further testing with a blood sample to check if the two genes that cause CF are present – and/or may receive a sweat test.
• Genetic testing. With more than 2,000 different mutations of the CF gene, genetic testing not only confirms whether the CF gene is present, but it also identifies the exact mutation a person has. For couples who want to have children, genetic testing is also important as more than 10 million Americans are carriers of a CF gene. If both parents are carriers, there’s a one-in-four chance that a child will have CF.
• Sweat test. The most common diagnosis method, the sweat test involves collecting sweat from a small area on the child’s forearm and measuring the sweat’s chloride levels, with high levels indicating CF.

Cystic fibrosis is a complex disease as there are many factors that can affect a person’s health and the course the disease runs. While the types of symptoms and their severity can differ widely from person to person, common symptoms of CF include:

• Persistent coughing, at times with phlegm
• Frequent lung infections, including pneumonia or bronchitis
• Wheezing or shortness of breath
• Chronic sinus infections
• Poor weight gain or growth in childhood, despite a good appetite
• Difficulty with bowel movements or frequent greasy, bulky stools
• Salty skin, leaving parents with a salty taste after giving their child a kiss

Currently there is no cure for CF. However, because of tremendous advancements in specialized CF care, more than half of people with CF are 18 and older. There are multiple therapies aimed at slowing the progression of the disease, and in certain instances, preventing specific medical complications.

“With the right treatment plan, we are seeing an upward trend of people with CF growing up and leading active, full lives,” Dr. Logan says. “Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short. Our mission for a cure is not over.”

Although treatment plans are tailored to each person’s unique needs, many treatment plans contain the same elements, such as the following therapies:

• Airway clearance therapy to help loosen and get rid of the thick mucus that can build up in the lungs.
• Nebulizer (inhalation) treatments of medications, including antibiotics, anti-inflammatory or mucus-thinning medications.
• Pancreatic enzyme replacement therapy to help improve the absorption of vital nutrients.
• An individualized fitness plan to help improve energy, lung function and overall health.
• Cystic fibrosis transmembrane conductance regulator (CFTR) modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific genetic mutations.