What is 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.
Types of cystic fibrosis
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.
Cystic fibrosis symptoms
People with CF have a higher amount of salt in their sweat, which may be one of the first symptoms you notice. Most other symptoms of cystic fibrosis involve respiratory and digestive systems. Although CF gets worse over time, and adult and atypical symptoms can vary, early treatment can help you manage these symptoms, feel better, and get the most out of every day.
- Wheezing and trouble breathing
- A cough that doesn’t go away
- Bringing up thick mucus when you cough
- A congested nose and swelling of the nasal passages
- Frequent lung infections, like pneumonia or bronchitis
- Repeated sinus infections
- Loose or oily stool
- Stool that’s a lighter color, contains mucus, or that floats
- Constipation and belly pain
- Gas, bloating, or a stomach that looks swollen
- Nausea and loss of appetite
- Slow growth in children and delayed puberty in adolescents because of poor digestion
- Not gaining weight even though you’re eating enough calories
- Gastroesophageal reflux (GERD)
If you have atypical cystic fibrosis, you may have respiratory and digestive symptoms, or you may have other symptoms like fatigue, nasal polyps, diarrhea, and dehydration. In this type, usually only one organ is affected.
Along with respiratory and digestive symptoms, adults with CF may experience repeated inflammation of the pancreas that causes stomach pain, known as pancreatitis. Adults may also have clubbed fingers, where their fingernails are larger than normal or have an unusual shape.
Complications of cystic fibrosis
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.
What causes cystic fibrosis?
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 diagnosis
Most people with cystic fibrosis are diagnosed during the first few years of life. Newborns are screened by taking a few drops of blood from their heel and measuring levels of a chemical made in the pancreas. If the levels are higher than usual, they’ll need a test that measures the amount of salt in their sweat. If you weren’t screened at birth or have the atypical type of CF with mild symptoms, you may not be diagnosed until you’re older or an adult. Other tests can check for the cystic fibrosis gene mutation, if your organs are affected by CF, and whether the mucus you cough up contains bacteria.
How we treat and manage cystic fibrosis
Treatment focuses on breaking up and removing mucus from the lungs. Mucus can be thinned or cleared by using inhaled medications and airway clearance techniques. Other treatments for CF include anti-inflammatory drugs, antibiotics, medicines to help with digestion, CFTR modulator medications, and supplements. It’s also important to get treatment for conditions like diabetes, liver disease, and GERD.
Specialized CF care for a longer, healthier life
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.
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Patient stories
New lungs, a new liver, and a new lease on life
Decades after a childhood diagnosis of cystic fibrosis, Donald traveled across the world to find transplant care he could trust at Penn Medicine.