Cystic fibrosis (CF) is an inherited disease that causes glands throughout the body to make abnormally thick, sticky mucus. This abnormal mucus can accumulate and lead to blockages, infections, and organ damage. CF commonly affects the:
- Intestines.
- Liver.
- Lungs.
- Pancreas.
- Reproductive organs.
- Sweat glands.
At UPMC, we offer advanced, multidisciplinary care for adults with CF, including ongoing management and treatment of associated complications. We promote active involvement from our patients in their health care and research efforts. UPMC specialists also deliver comprehensive care for children and families affected by cystic fibrosis.
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What Is Cystic Fibrosis (CF)?
Cystic fibrosis (CF) is an inherited disease that causes glands throughout the body to make abnormally thick, sticky mucus. This abnormal mucus can build up and lead to blockages, infections, and organ damage. CF commonly affects the:
- Intestines.
- Liver.
- Lungs.
- Pancreas.
- Reproductive organs.
- Sweat glands.
What are the types of cystic fibrosis?
There are two types of cystic fibrosis:
- Atypical CF — A milder form of CF that is often diagnosed in older children or adults. It may affect only one organ or cause symptoms that come and go.
- Classic CF — Affects multiple organs and is usually diagnosed during newborn screening or within the first few years of life.
How common is CF?
The Cystic Fibrosis Foundation estimates that nearly 40,000 people are living with CF in the U.S., and more than 105,000 worldwide.
What causes CF?
CF is caused by inherited mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. Normally, CFTR helps keep the airways moist so mucus can move out of the lungs.
In CF the airways get too dry, and the mucus becomes thick and sticky, making it hard to clear from the lungs.
People who have CF inherit two mutated CFTR genes, with one gene coming from each parent.
Cystic fibrosis risk factors
You are at risk of developing CF if your biological parents have CF or are carriers of a mutated CFTR gene. Carriers of mutated CFTR genes do not have CF, but they have one copy of the mutated gene that causes it.
According to the American Lung Association, about 1 in 30 people in the U.S. is a carrier of a mutated CFTR gene.
Complications of cystic fibrosis
The impairment in mucus clearance predisposes people with CF to chronic airway infections and obstructive lung disease. Other complications of CF include:
- Diabetes.
- Fertility problems in men.
- Malnutrition.
- Osteopenia and osteoporosis.
- Pregnancy complications.
How can I prevent cystic fibrosis?
There is nothing you can do to prevent CF. However, some couples choose to have genetic counseling and testing before having a biological child to determine whether they are carriers of the CF gene.
What Are the Signs and Symptoms of Cystic Fibrosis?
Some common symptoms of CF include:
- Abnormally shaped clubbed fingertips.
- Coughing.
- Low growth pattern.
- Salty skin.
- Trouble gaining weight.
- Wheezing.
When should I see a doctor about my CF symptoms?
If you or your child has symptoms of CF, you should schedule an appointment with your doctor right away. Early diagnosis and ongoing treatment can reduce the risk of serious complications.
How Do You Diagnose Cystic Fibrosis?
To diagnose CF, your doctor will perform a physical exam and review your symptoms and medical history. Your doctor may order tests and procedures to rule out other health conditions and help make a diagnosis.
What to expect during your visit
At UPMC, the initial evaluation for cystic fibrosis (CF) includes:
- A thorough physical examination.
- An assessment of your symptoms.
- An evaluation of past medical history.
Tests to diagnose CF
After reviewing your symptoms, medical history, and physical exam, the doctor may order various types of tests to help make a diagnosis, including:
- Chest and/or sinus x-rays — Look for problems in your lungs or sinuses and rule out other conditions that may cause similar symptoms.
- Genetic (DNA) testing — Looks for gene mutations that cause CF.
- Newborn blood tests — Your doctor may order blood tests to look for immunoreactive trypsinogen (IRT) in newborns. High IRT levels can be a sign of CF.
- Sweat testing — Measures the amount of chloride in your sweat, which may be higher than normal if you have CF.
- Lung function tests — Measures how well your lungs are working.
Your doctor may also order other tests to assess problems in other organs or check for signs of infection.
CF prognosis
Cystic fibrosis (CF) is a serious, lifelong condition that can significantly reduce life expectancy and result in poor health.
Women tend to be affected more severely than men, but the severity of illness can vary greatly. Some people with mild forms of CF can live to age 60 or beyond. Your doctor will discuss your prognosis with you.
How Do You Treat Cystic Fibrosis?
Although there is currently no cure for CF, the goals of treatment at UPMC include:
- Improving nutritional status.
- Keeping the airways and lungs as clear as possible.
- Preventing and treating lung infections.
Medical therapy
People with CF need ongoing medical treatment, including:
- Infection control for the lungs through inhaled, oral, and intravenous antibiotics.
- Inhaled medications to wet and thin mucus.
- Regular airway clearance to clear mucus from the lungs.
- Regular exercise and nutritional support.
Additional therapies
The Adult Cystic Fibrosis Care Program at UPMC provides access to several additional therapies and resources for individuals affected by cystic fibrosis, including:
- Clinical trials — We participate in advanced research to enhance our understanding of CF and develop novel treatment options.
- Lung transplantation — UPMC is nationally renowned for lung transplant services. Our experts have performed more than 1,400 lung transplants since the program’s inception. Our CF program doctors work closely with members of the lung transplant team to refer patients for evaluation when the time is right.
Why Choose UPMC for Cystic Fibrosis Care?
When you choose UPMC for CF care, you will receive:
- Access to board-certified specialists — Our multidisciplinary team of experts provides leading-edge care and ongoing management for adults with CF.
- Expert diagnosis and personalized care — Our team will develop a customized treatment plan to reduce your risk of complications and improve your quality of life.
- A full range of treatment options — We use the latest therapies and approaches to provide comprehensive care, including access to promising clinical trials that study new treatment options.
