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Enzyme Deficiency Testing Urged for Lung
Patients
Reuters Health NEW YORK (Reuters Health) - All adults with symptoms of certain lung diseases should be screened for a genetic defect, a specialist physicians group is recommending. According to guidelines released by the American Thoracic Society and the European Respiratory Society, patients diagnosed with chronic obstructive pulmonary disease (COPD), emphysema, or adult-onset asthma -- as well as unexplained liver disease -- should undergo genetic testing for deficiency of an enzyme called alpha-1 antitrypsin. "Because alpha-1 antitrypsin deficiency can masquerade as COPD or asthma, we have to check levels of the protein to make sure we're not missing anyone," Dr. Gerard Turino, director of the James P. Mara Center for Lung Disease at St. Luke's-Roosevelt in New York, told Reuters Health. Patients with the enzyme deficiency who have severe COPD-type symptoms should receive supplements of the enzyme to make up for their low levels, he said. "Our registry studies have shown a survival benefit for patients with alpha-1 antitrypsin deficiency and COPD symptoms who receive enzyme replacement," continued Turino, who emphasized that registry studies "are not randomized controlled trials." The studies demonstrated that for patients with mid-range lung impairment, there is a "statistically significant" slower decline each year with the augmentation therapy. Such patients should also receive general management of COPD symptoms, Turino added, and this includes preventive vaccination against influenza and pneumonia, inhaled bronchodilators, supplemental oxygen as needed, and pulmonary therapy. The new guidelines are published in the October 1 issue of the American Journal of Respiratory and Critical Care Medicine. According to the new treatment standards, alpha-1 antitrypsin deficiency should be suspected in patients with early-onset emphysema (at age 45 or younger); emphysema without the presence of known risk factors such as smoking; unexplained liver disease; and a family history of emphysema. Source: |