A person with cystic fibrosis should have a comprehensive program of therapy directed by an experienced doctor—usually a pediatrician or an internist—along with a team of other doctors, nurses, a dietitian, social worker, genetics counselor, psychologist, and physical and respiratory therapists. The goals of therapy include long-term prevention and treatment of lung and digestive problems and other complications, maintenance of good nutrition, and encouragement of physical activity.
Children with cystic fibrosis need psychologic and social support because they may be unable to participate in normal childhood activities and may feel isolated. Much of the burden of treating a child with cystic fibrosis falls on the parents, who should receive adequate information and training so they can understand the condition and the reasons for the treatments.
The treatment of lung problems focuses on preventing airway blockage and controlling infection. The person should receive all routine immunizations and the influenza vaccine, because viral infections can further damage the lungs. Infants and toddlers should receive pneumococcal immunization as part of their routine care.
Respiratory therapy—consisting of postural drainage, percussion, hand vibration over the chest wall, and encouragement of coughing—is started at the first sign of lung problems. Parents of a young child can learn these techniques and carry them out at home every day. Older children and adults can carry out respiratory therapy independently, using special breathing devices or a compression vest.
Often, people are given drugs that help prevent their airways from narrowing (bronchodilators). People with severe lung problems and a low level of oxygen in the blood may need supplemental oxygen therapy. In general, people with respiratory failure do not benefit from using a ventilator; however, occasional, short periods of mechanical ventilation in the hospital may help during an acute infection, after a surgical procedure, or while waiting for a lung transplant.
An aerosol drug, such as dornase alfa (recombinant human deoxyribonuclease I) is widely used to help thin the pus-filled mucus; such a drug makes it easier to cough up sputum, improves lung function, and may also decrease the frequency of serious respiratory tract infections. Mist tents have no proven benefit. Corticosteroids can relieve symptoms in infants with severe bronchial inflammation and in people who have narrowed airways that cannot be opened with bronchodilators. Sometimes, a nonsteroidal anti-inflammatory drug (NSAID) is used to slow the deterioration of lung function.
Respiratory tract infections must be treated as early as possible with antibiotics. At the first sign of a respiratory tract infection, a sample of coughed-up sputum or a throat culture is collected and tested, so that the infecting organism can be identified and the doctor can choose the drugs most likely to control it. Staphylococcus aureus and Pseudomonas species are commonly found. An antibiotic often can be given by mouth, or an antibiotic such as tobramycin
can be given in an aerosol mist. However, if the infection is severe, intravenous antibiotics may be needed. This treatment often requires hospitalization but may be given at home. Taking oral or aerosol antibiotics intermittently or continuously may help prevent recurrences of infection and slow the decline in lung function.
People who have pancreatic problems must take pancreatic enzyme replacements with each meal; a powder (for infants) and capsules are available. Special milk formulas containing protein and fats that are easy to digest may help infants who have pancreatic problems and poor growth.
The diet should provide enough calories and protein for normal growth. The proportion of fat should be normal to high. Because people with cystic fibrosis need more calories, they need to consume higher than normal amounts of fat to ensure adequate growth. People with cystic fibrosis should take double the usual recommended daily amount of fat-soluble vitamins (A, D, E, and K) in a special formulation that is more easily absorbed. When they exercise, have a fever, or are exposed to hot weather, people who have cystic fibrosis should increase their salt intake. Children who cannot absorb enough nutrients from food may need supplementary feedings through a tube inserted into the stomach or small intestine.
At some time, surgery may be needed to treat a pneumothorax, chronic sinus infection, severe chronic infection restricted to one area of the lung, bleeding from blood vessels in the esophagus, gallbladder disease, or obstruction of the intestine. Massive or recurrent bleeding in the lung can be treated by a procedure called embolization, which blocks off the bleeding artery.
Liver transplantation has been successful for severe liver damage. Double lung transplantation for severe lung disease is becoming more routine and more successful with experience and improved techniques. One year after transplantation of both the right and the left lungs, about 75% of people are alive, and their condition is much improved.
Gene therapy, in which normal cystic fibrosis genes are delivered directly to the airways, holds great promise for treating cystic fibrosis. However, this therapy is only available in research trials. A number of new drugs, delivered by mouth or aerosol, are under investigation.