In the past, people diagnosed with cystic fibrosis, an inherited disease that causes of a buildup of mucus in the lungs,  were told that they would only live into their teens or 20s. But with earlier detection and improved therapies, people with cystic fibrosis are living longer, more active lives than ever before.

Yale Medicine's Adult Cystic Fibrosis Program uses a multidisciplinary team approach. Each team includes a physician, nurse, nutritionist, physical therapist, respiratory therapist, and social worker to address patient and family needs.

Cystic fibrosis results from a defective gene inherited from both parents. The gene causes the body to produce thick mucus that does not function normally, says Jonathan Koff, MD, director of the Adult Cystic Fibrosis Program at Yale Medicine.

The lungs sustain the most serious damage. They are unable to clear the thick mucus and the bacteria within it, which leads to recurrent lung infections, difficulty breathing and, for those with severe disease, eventual respiratory failure.

Additional organs may be affected by cystic fibrosis. For example, inflammation in the pancreas makes a CF patient unable to absorb enough calories, which means that he or she may lose weight or have low vitamin levels despite eating a complete diet.

Other symptoms may include:

• Cystic fibrosis-related diabetes
• Intestinal blockages
• Bone disease
• Liver disease
• Male infertility

All 50 states now screen babies for cystic fibrosis at birth (the test is part of the heel-stick blood tests for newborns).

The test increases the number of cases that are discovered at an early age, which allows patients to receive earlier treatment at a cystic fibrosis center, says Dr. Koff.

While most cystic fibrosis patients are diagnosed by the time they are two years old, and others are diagnosed in adulthood. It's important to recognize that there are more than 1,800 mutations in the cystic fibrosis gene, which may complicate the diagnosis.

Cystic fibrosis may affect each person differently. At Yale Medicine, the team works with each patient and his or her family to design the most appropriate regimen, which many include any or all of the following:

Respiratory therapies: Airway clearance therapies are used to clear mucus from the lungs, which fights infection and makes breathing easier. An example of this therapy is a vest that inflates around the chest and vibrates to help mobilize mucus secretions.

Other respiratory therapies may include breathing into a mask or mouthpiece, and learning to “huff” cough, which is a technique that improves coughing up mucus. Bronchodilators, inhaled mucus thinning medications, and antibiotics (which may be inhaled or taken in pill form) also help to manage symptoms and maintain lung function.

Nutrition: In addition to maintaining a healthy, high-calorie diet, people with cystic fibrosis may take medications to supplement their vitamin levels and replace the pancreatic enzymes that their body is not making, so they can properly digest their food.

Additional treatments: Patients may also take medications for cystic fibrosis-related diabetes, chronic sinusitis and bone disease to prevent intestinal problems.

In the past, patients diagnosed with cystic fibrosis were told that they would only live into their teens or 20s. Now more than half of all cystic fibrosis patients in the United States are over 18 and median survival is over 40.

“With our ability to diagnose individuals at a younger age and treat them earlier, we’re seeing more individuals with cystic fibrosis live to adulthood than we ever have before,” says Dr. Koff. “And when they come to adulthood, their lungs function better and their nutritional status is better, so they are having fewer complications and living more active lives.”

With new medications, doctors are able to improve the protein that is abnormal in some cystic fibrosis patients.

“This is an example of personalized medicine, which is an exciting opportunity for our patients,” he says. “While this does not fix the underlying gene mutation, it can improve function enough to provide a significant benefit.”

In addition, research led by the Cystic Fibrosis Foundation is underway to provide similar therapies for every person with cystic fibrosis–regardless of the mutation involved.

“We’re in an new era that is transforming cystic fibrosis care for our patients,” says Dr. Koff.

At Yale Medicine’s Pediatric and Adult Cystic Fibrosis Programs, which are both accredited by the Cystic Fibrosis Foundation, care is provided through a multidisciplinary team approach. Each team includes a physician, nurse, nutritionist, physical therapist, respiratory therapist, and a social worker to address patient and family needs at each clinic visit.

In addition to these experts, consultants in endocrinology (to provide expertise with cystic fibrosis-related diabetes and bone disease), otolaryngology (to provide expertise with chronic sinusitis), genetics and maternal fetal medicine (to provide expertise with family planning) and palliative care medicine (to provide expertise with pain management) are available to help provide outstanding comprehensive care.

Yale Medicine's research program is part of a national consortium for clinical research studies for new medications to treat cystic fibrosis. Our team is always looking for ways to better understand inflammation in cystic fibrosis, to correct the gene mutation using novel delivery techniques in the lung and to combat viral infections. 

Dr. Koff and his colleagues also collaborate with Yale Medicine physicians and research specialists across Yale School of Medicine who investigate cystic fibrosis liver and gallbladder inflammation.