Cystic fibrosis (CF) is an inherited disorder that affects the respiratory (lungs) and digestive system. It ultimately leads to severe damage of the lungs, causes malnutrition without intervention, and can lead to diabetes and bone disease. It is the most common genetic disorder in Caucasians, affecting about 30,000 patients in the United States and 70,000 worldwide. However, it also occurs in Hispanics, African-Americans and some Native Americans. It is typically diagnosed during childhood. Due to advances in screening and care, more adults are now living better with this disease.

Cystic fibrosis is caused by one of many possible genetic mutations (changes) in the CF protein that makes sweat, mucus, and digestive juices (called bile) abnormally thick and sticky. When these lubricants can’t move through passages in the lungs and pancreas, it leads to life-threatening conditions.

Symptoms of cystic fibrosis vary and can go unnoticed until young adulthood (called adult-onset CF). In addition to a chronic, ongoing, cough that brings up mucus, shortness of breath, and nasal congestion, adult symptoms, and complications of cystic fibrosis may include:

• Arthritis: joint swelling and pain, such as cystic fibrosis-related arthropathy (CFA) and hypertrophic pulmonary osteoarthropathy (HPO)
• Bile duct disease: like biliary cirrhosis (irreversible scarring caused by bile blockage)
• Bronchiectasis: permanently enlarged airways that cause excess mucus in the lungs
• Diabetes: problems regulating insulin, or blood sugar
• Frequent lung infections: like bacterial pneumonia
• Gallstones: stones in the gallbladder
• Infertility: specifically in males
• Malnutrition: lack of vital nutrients due to absorption problems (how the pancreas processes vitamins, minerals, and proteins from food)
• Osteoporosis: bone loss or thinning
• Pancreatitis: inflammation of the pancreas

At the University of Miami Health System, our pulmonologists (lung specialists) help patients with cystic fibrosis live life to the fullest by controlling symptoms and slowing disease progression (worsening). We also help children and teens with CF transition into the adult health care system.

Tests

Genetic tests
Genetic tests can tell if you carry the CF gene and confirm a diagnosis, if necessary. Genetic tests for CF involve blood samples or tissue taken from the inside cheek sent to a lab for analysis.

Sweat test
Cystic fibrosis causes increased chloride (a component of salt) in the body that can be detected in a sweat test. This test involves applying a sweat-producing material on the skin to collect a sample for analysis.

Treatments

Airway clearance
Airway clearance techniques (ACTs) loosen and thin mucus in the lungs. Chest physical therapy uses percussion (clapping), vibration, and deep breathing exercises to help you huff and cough up mucus. Chest physical therapy combined with postural percussion involves clapping while you stand, sit, and lie down to promote drainage. Another common ACT is a vibrating vest attached to a machine.

Cystic fibrosis transmembrane conductance regular (CFTR) modulators
CFTR modulators are medicines that correct the function of the defective protein made by the CF gene. Currently, only specific mutations (changes) can be treated with CFTR modulators. Research continues in this field.

Medicine therapy
Oral, inhaled, or injected medicines can help fight infections, preserve and improve lung function, reduce inflammation, and thin mucus. These include antibiotics, bronchodilators, and anti-inflammatory medicines. Your doctor may prescribe other medicines or supplements to treat related complications, such as diabetes or problems with vitamin absorption in the pancreas.

Pulmonary rehabilitation
Pulmonary rehabilitation programs involve support, education, exercise, and nutrition counseling and training to help you live better with cystic fibrosis. Our programs are personalized to your needs, and focus on keeping you active and enjoying life.

Why Choose UHealth?

Multidisciplinary teams work together for you. Your care team is led by pulmonologists and includes a nurse practitioner, respiratory therapist, dietitian, psychologist, social worker, and physical therapist with special training in CF. We also partner with other specialists in gastroenterology, hepatology (liver care), otolaryngology (ear, nose, and throat), and more. You get the best possible care when we’re all working for you.

Part of the CF Foundation’s Therapeutic Development Network (TDN). TDN is a national research collaborative that conducts and shares groundbreaking CF treatments discovered by specialists in different medical fields. This means you have access to the very latest and greatest clinical trials and CF care right here in South Florida.

One of about 100 accredited adult cystic fibrosis programs in the U.S. We’re recognized by the Cystic Fibrosis Foundation for our high-quality care and support for adult patients with CF. Our comprehensive services — including education, counseling, connection to community resources, and much more — help you stay healthy and strong.

Special transition services for teens moving to adult cystic fibrosis care. Along with the online CF R.I.S.E. program, our transition team helps your high-schooler become independent and responsible for his or her health care. We provide facility tours, care team meet-and-greets, and “life after school” counseling, well before pediatric care ends. You can rest easy knowing your teen has seamless, continuous care for a complex condition.

Ongoing Clinical Trials

We currently have multiple ongoing clinical trials which change frequently. You can find the most updated list of the clinical trials we are participating at:

• CFF Clinical Trial Finder
• Clinicaltrials.gov