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Cystic Fibrosis : Diagnosis and Treatment
Diagnosis
- Individuals with a family history of CF should have genetic testing.
Prenatal testing and newborn screening may be used. Early detection
can make it easier to manage the disease.
- In suspected cases, a medical history and physical examination
will be the initial steps.
- Cystic fibrosis is diagnosed by a sweat test (which can be done
as early as 48 hours of age). The test measures the levels of salt
and chloride in the individual's sweat. Affected patients
have significantly increased levels. A positive sweat test combined
with lung and/or digestive symptoms establishes the diagnosis in
nearly all cases.
- Stool tests to identify excess fat in the stools can be used
to screen for poor digestion and absorption of fat, which are hallmarks
of this disease. However, a sweat test or genetic testing is necessary
for definitive diagnosis.
Treatment
The cornerstones of treatment are antibiotics, respiratory therapy
to keep the airways clear of mucus, and nutritional support. CF patients
should be cared for at a comprehensive CF care center by a multidisciplinary
health care team that includes a physician, nurse, respiratory therapist,
dietitian, and social worker.
- Antibiotics, such as azithromycin and tobramycin, are used both
for treatment and prevention of lung infections.
- Steroids may reduce airway inflammation. They can be administered
as pills or inhalers.
- Chest physical therapy should be performed daily to assist with
clearing mucus from the airways. In addition, a medication called
dornase alfa (Pulmozyme) decreases the thickness of the sputum,
making it easier to clear from the airways.
- Bronchodilator inhalers, similar to those used in treating asthma,
are appropriate in CF as well.
- Participation in regular exercise may improve lung function.
A review of exercise benefits indicated that over three years of
physical training, the patients who exercised regularly had significantly
better lung function than those who did not. Both aerobic exercise
and resistance exercise appear to benefit CF patients, and both
forms of exercise should be encouraged.
- Digestive enzyme supplements are generally required in all patients
to allow for the digestion of fats.
- A significant percentage of adults with the disease will develop
diabetes mellitus, which
requires insulin treatment and individualized dietary advice.
- Constipation can be treated with a laxative, such as polyethylene
glycol (MiraLax) or polyethylene glycol plus electrolytes (Golytely).
- In advanced disease, lung transplantation is an option. It should
be considered in patients who are no longer responding to other
therapies.
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