Cystic fibrosis

Cystic fibrosis (CF) is a genetic condition that makes it hard for you to breathe and difficult for your body to absorb nutrients. CF causes the mucus in your body to become thick and sticky, which leads to a buildup in your lungs, pancreas, and other organs. Although there’s no cure, screening and advanced treatments have helped people with CF live longer than ever before and improve their well-being.

Penn Medicine’s Adult Cystic Fibrosis Care specialists understand the unique needs of adults with CF. Our experts collaborate with Children’s Hospital of Pennsylvania (CHOP) and other pediatric programs to ensure a smooth transition from pediatric to adult care. We provide gene-targeting medications, respiratory therapy, and treatments that thin mucus, help prevent complications, and allow you to live a fuller and healthier life.

There are two types of cystic fibrosis: classic and atypical. Classic cystic fibrosis is diagnosed during the first few years of life and affects several organs and systems in your body. In addition to plugging your airways and blocking ducts in your pancreas, classic CF might also affect your liver, intestines, sex organs, and sinuses.

Atypical cystic fibrosis is a milder type and may affect only one organ, with symptoms that come and go. You might not know you have this type until you’re an adolescent or adult.

You might notice that symptoms like coughing, trouble breathing, weight loss, and low energy are worse at times, known as exacerbations. As you get older, you might develop other conditions because of CF’s effects on your body, like cystic fibrosis-related diabetes (CFRD), cirrhosis, and osteoporosis.

While CF can affect fertility and may pose a higher risk of premature birth, treatments are available to help you get pregnant and have a healthy birth.

Cystic fibrosis is caused by changes in DNA (gene mutations) that affect how your body functions. The gene involved in cystic fibrosis is called CFTR, and CFTR mutations affect proteins in your body that allow minerals to move water into mucus to keep it thin. The proteins also affect your sweat and digestive juices. CFTR mutations are more common among people of northern and central European descent.

People with CF have two copies of the CFTR gene mutation, which is passed down from both parents. However, your parents don’t need to have CF for you to inherit it. If they have one copy of the gene mutation and no CF symptoms, they’re known as carriers. When both parents are carriers, there’s a 25 percent chance that their child may have cystic fibrosis. A blood test can reveal if someone is a carrier.

Cystic fibrosis treatment is complex, but expert care can dramatically improve your quality of life. Penn Medicine’s dedicated staff has provided cystic fibrosis care for decades and currently treats one of the largest populations of people with CF in the nation. Our doctors, nurses, dietitians, respiratory therapists, physical therapists, genetic counselors, and mental health providers all work together to help you manage your symptoms into adulthood. We also help guide you through lifestyle changes, including taking charge of your CF care as an adult and planning a family.

• Recognized excellence: Penn Medicine is accredited by the Cystic Fibrosis Foundation for providing high quality, specialized care.
• Collaboration across specialties: Our CF team coordinates with experts in different disciplines, like diabetes, gastroenterology, hepatology, gynecology, obstetrics, fertility, and ear, nose, and throat to provide you with complete care.
• Active cystic fibrosis research: Penn Medicine’s researchers are part of the CF Therapeutic and Development Network, the largest CF clinical trials network in the world. They also participate in many studies funded by the Cystic Fibrosis Foundation and the National Institutes of Health.