Cystic Fibrosis

Lung specialists at UT Southwestern Medical Center have years of expertise and advanced training in diagnosing and treating cystic fibrosis, a life-threatening genetic disorder. Our doctors and their teams provide the highest level of specialized care to improve our patients’ quality of life.

Exceptional Care for Cystic Fibrosis

Cystic fibrosis (CF) is a genetic, inherited lung condition that causes thick mucus to build up in the lungs, pancreas, and other parts of the body. In these areas, mucus is normally thin and slippery, but CF causes thick, sticky mucus that leads to blockages, infections, and other damage. CF is a chronic, progressive, life-threatening condition, but early treatment can improve lung function and prolong life.

Designated as an accredited CF Care Center by the Cystic Fibrosis Foundation, UT Southwestern’s Cystic Fibrosis Clinic offers patients access to the latest therapeutic techniques to control symptoms and improve overall health. Our lung specialists have extensive experience in the most advanced treatments available, such as targeted genetic medications and lung transplantation. We also have a close relationship with the pediatric CF program at Children’s Medical Center to make the transition from pediatric to adult care as smooth as possible.

Causes of Cystic Fibrosis

CF results from mutations (defects) in the gene CFTR (cystic fibrosis transmembrane conductance regulator), which regulates surface fluid on cells located in organs that produce mucus, such as the lungs, pancreas, liver, and intestines. To develop CF, a person must inherit two copies of the mutated gene, one from each parent. People who inherit one defective gene and one normal gene will be CF carriers.

Screening for Cystic Fibrosis

Although CF cannot be prevented, screening can detect the CF gene mutation in carriers. People with a family history of the condition can undergo genetic testing before starting a family to determine the risk of having a child with CF. Genetic testing can also be done during pregnancy on an unborn child. Find out more about genetic counseling and testing at UT Southwestern.

Diagnosis of Cystic Fibrosis

Newborns are screened at birth using a blood test that checks the level of a chemical (immunoreactive trypsinogen, or IRT) released by the pancreas. Because a newborn’s IRT level could be high for reasons other than CF, this test does not confirm a diagnosis. Rather, it indicates that other testing is needed.

If older children and adults who weren’t screened at birth are experiencing symptoms that could be related to CF, our pulmonologists (lung specialists) can confirm a diagnosis or rule it out. We begin with a thorough evaluation that includes a:

• Physical exam
• Review of personal and family medical history
• Discussion of symptoms

To confirm a diagnosis, we perform further tests such as:

• Blood tests to check for CF gene mutations, using DNA testing
• Sweat test to check for high levels of chloride in sweat (the standard diagnostic test for CF)

Treatment for Cystic Fibrosis

CF has no cure, but treatment can manage symptoms and lower the risk of complications. With an early diagnosis and a comprehensive treatment plan, patients can significantly extend and improve their quality of life. Treatment goals include:

• Loosening and removing mucus from the lungs
• Preventing and controlling lung and sinus infections
• Preventing and treating intestinal blockages
• Ensuring adequate nutrition

It’s important to receive care from a CF specialty clinic for lifelong monitoring and specialized care, which are key to successfully managing CF. At UT Southwestern, our team has advanced training and extensive experience in CF care.

We work closely with patients to determine the right treatments for each patient’s specific symptoms and health. Many adults have a milder form of the disease, and our specialists thoroughly discuss all treatment options.

Medications

Depending on each patient’s specific needs, our providers prescribe medications that include:

• Antibiotics, which can be oral, inhaled, or intravenous (IV), to prevent and treat lung and sinus infections
• Anti-inflammatory medications, such as corticosteroids or nonsteroidal anti-inflammatory drugs (NSAIDs), to reduce swelling in lung airways
• Bronchodilators (inhaled) that help keep airways open by relaxing the muscles around the bronchial tubes
• CFTR modulators (oral) that target a protein in specific mutations in the CF gene
• Mucus thinners (inhaled) to loosen mucus and make it easier to cough up
• Pancreatic enzymes (oral) to help the digestive system absorb fat, protein, and other nutrients
• Insulin and other medications to control sugars for those with cystic fibrosis-related diabetes

Nonsurgical Treatments

We offer effective noninvasive therapies, which can be used alone or with medications to relieve CF symptoms. These therapies include:

• Chest physical therapy, such as manual chest percussion to help loosen mucus and make it easier to cough up
• Endoscopy and lavage to suction mucus from blocked airways through an endoscope (narrow, flexible tube)
• Feeding tube to provide extra nutrition to the stomach
• Oxygen therapy, if necessary, to increase blood oxygen level and prevent high blood pressure in the lungs (pulmonary hypertension)

UT Southwestern also offers pulmonary rehabilitation, a long-term, outpatient program with specialized therapists. Pulmonary rehab can improve lung function and overall health, and we always recommend it after a lung transplant. Our services include:

• Breathing and coughing techniques
• Counseling and support
• Nutritional counseling
• Physical exercise

Surgery for Cystic Fibrosis

Our surgeons perform procedures to relieve breathing and intestinal symptoms. We offer:

• Double lung transplant for people with advanced lung disease and respiratory failure
• Liver transplant for those with advanced liver disease due to cystic fibrosis
• Nasal polyp removal to remove growths inside nasal or sinus passages that obstruct breathing

Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with CF, such as sinus infections, diabetes, and pancreas problems, may still be present after a lung transplant.

Our lung transplant program has been especially successful in providing transplants to patients with cystic fibrosis. Over a recent 30-month period, the lung transplant program was rated the best in the nation for achieving the highest survival rate for one-year post-transplant patients. Since the lung transplant program began in 1990, UT Southwestern has consistently ranked among the top 10 in the United States.

Support Services

Support groups and resources can be an important aspect of care for patients with CF and their families. UT Southwestern has a patient and family advisory board for those interested in participating. We also offer a pediatric-to-adult transition care program.

Clinical Trials

Because we are accredited by the Cystic Fibrosis Foundation and are part of the CF Foundation's Therapeutics Development Network, UT Southwestern participates in national, multicenter clinical trials that test new therapies for the treatment of CF.

Our team has participated in a number of clinical trials supported by the CF Foundation, Therapeutics Development Network, Vertex Pharmaceuticals, Corbus, Sound Pharma, Novartis, Gilead, Behringer-Ingelheim, and many more.  For a list of studies we are currently participating in or enrolling in, please see CFF Clinical Trials Finder and Dr. Raksha Jain’s lab site.