Cystic fibrosis is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.
Causes, incidence, and risk factors
Cystic fibrosis (CF) is caused by a defective gene which causes the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food.
This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man's reproductive system.
Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.
Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.
An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important. If possible, patients should be cared for at cystic fibrosis specialty clinics, which can be found in many communities. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults.
Treatment for lung problems includes:
Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins or by breathing treatments. People with cystic fibrosis may take antibiotics only when needed, or all the time. Doses are usually higher than normal.
Inhaled medicines to help open the airways
DNAse enzyme therapy to thin mucus and make it easier to cough up
High concentration of salt solutions (hypertonic saline)
Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly (ask your health care provider)
Oxygen therapy may be needed as lung disease gets worse
Lung problems are also treated with aerobic exercise or other therapies to thin the mucous and make it easier to cough up out of the lungs. These include a Percussion Vest, manual chest percussion, A-capella, or TheraPEP device.
Treatment for bowel and nutritional problems may include:
A special diet high in protein and calories for older children and adults
Pancreatic enzymes to help absorb fats and protein
Vitamin supplements, especially vitamins A, D, E, and K
Your doctor can suggest other treatments if you have very hard stools
Care and monitoring at home should include:
Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew.
Drinking plenty of fluids. This is particularly true for infants, children, in hot weather, when there is diarrhea or loose stools, or during extra physical activity
Exercising two or three times each week. Swimming, jogging, and cycling are good options.
Clearing or bringing up mucus or secretions from the airways. This must be done one to fours times each day. Patients, families, and caregivers must learn about doing chest percussion and postural drainage to help keep the airways clear.
Most children with cystic fibrosis are fairly healthy until they reach adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with cystic fibrosis finish college or find employment.
Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is approximately 37 years, a dramatic increase over the last three decades.
Death is usually caused by lung complications.
The most common complication is chronic respiratory infection.
Call your health care provider if an infant or child has symptoms of cystic fibrosis.
Call your health care provider if a person with cystic fibrosis develops new symptoms or if symptoms get worse, particularly severe breathing difficulty or coughing up blood.
Call your health care provider if you or your child experiences:
Fever, increased coughing, changes in sputum or blood in sputum, loss of appetite, or other signs of pneumonia
Increased weight loss
More frequent bowel movements or stools that are foul-smelling or have more mucus
Swollen belly or increased bloating
There is no way to prevent cystic fibrosis. Screening those with a family history of the disease may detect the cystic fibrosis gene in 60 - 90% of carriers, depending on the test used.
Flume PA, Mogayzel PJ Jr, Robinson KA, Rosenblatt RL, Quittell L, Marshall BC; Clinical Practice Guidelines for Pulmonary Therapies Committee; Cystic Fibrosis Foundation Pulmonary Therapies Committee. Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. Am J Respir Crit Care Med. 2010 Aug 1;182(3):298-306.
Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis consensus report. Journal of Pediatrics. Aug 2008;153(2).
Stallings VA, Stark LF, Robinson KA, Feranchak AP, Quinton H. Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis and pancreatic insufficiency: Results of a systematic review. Journal of the American Dietetic Association. May 2008;108(5).
Mogayzel PJ Jr, Flume PA. Update in cystic fibrosis 2009. Am J Respir Crit Care Med. 2010 Mar 15;181(6):539-44.
Borowitz D, Robinson KA, Rosenfeld M, et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009 Dec;155(6 Suppl):S73-93.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.