Cystic Fibrosis (CF)

Overview
Diagnosis
Treatment

Cystic Fibrosis (CF) Overview

Cystic fibrosis (CF) is an inherited disease that causes glands throughout the body to make abnormally thick, sticky mucus.

The most frequently affected organs include the:

Lungs
Pancreas
Sweat glands
Intestines

The liver and reproductive organs are also commonly affected.

CF is caused by inherited mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The CFTR normally functions to hydrate the airway and facilitate the clearance of mucus from the lungs. In CF, airway hydration is decreased and mucus is poorly cleared from the lungs due to abnormal CFTR function.

The impairment in mucus clearance predisposes people with CF to chronic airway infections and obstructive lung disease.

At the Adult Cystic Fibrosis Care Program at UPMC, quality improvement is part of our mission to fight CF. We encourage our patients to be active participants in their health care and in our research and quality improvement initiatives.

The Antonio J. and Janet Palumbo Cystic Fibrosis Center (CF Center) at UPMC Children's Hospital of Pittsburgh is also dedicated to providing care to patients and families with cystic fibrosis.

Additional Resources

Learn more about the Division of Pulmonary, Allergy, and Critical Care Medicine.

View a list of UPMC adult cystic fibrosis doctors and staff.

Diagnosing Cystic Fibrosis

At UPMC, the initial evaluation for cystic fibrosis (CF) includes:

A thorough physical examination
An evaluation of past medical history
An assessment of the nature of your symptoms

Symptoms of cystic fibrosis

Some common symptoms of CF include:

Salty skin
Trouble gaining weight
Low growth pattern
Abnormally shaped clubbed finger tips
Coughing
Wheezing

Testing for cystic fibrosis

After reviewing your symptoms, medical history, and physical exam, the doctor may order various types of tests and procedures in order to make a diagnosis.

These may include:

Sweat testing
Genetic (DNA) testing
Chest and/or sinus x-rays
Lung function tests

Newborns are screened in a similar way.

Cystic Fibrosis Treatments

Cystic fibrosis (CF) is a serious, life-long condition that can significantly reduce a person’s life expectancy, and can also 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.

While there is currently no cure for CF, treatment at UPMC is aimed at:

Keeping the airways and lungs as clear as possible
Preventing and treating lung infections
Improving nutritional status

Treatment plan for cystic fibrosis

Our treatment plan includes:

Regular airway clearance in an effort to clear mucus from the lungs
Inhaled therapies to hydrate and thin mucus
Infection control of the lungs through inhaled, oral, and intravenous antibiotics, when indicated
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.

We also offer several therapies though our aggressive involvement in clinical trials.

For some patients with CF, medical therapy will not be enough and they may be evaluated for other types of treatment, including lung transplantation.

The UPMC Lung Transplantation Program is nationally renowned. 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 Program to refer patients for evaluation, when the time is right. And, the medical director of the Lung Transplant program is co-director of the adult CF program, providing unique continuity of care.

View a list of UPMC adult cystic fibrosis doctors and staff.