FROM 20 000 to 40 000 persons in the United States have α1-antitrypsin deficiency, an autosomal recessive disorder that usually leads to emphysema early in life. Recently, therapy has become available that can help prevent the progression of this debilitating, eventually fatal, chronic lung disease. More encouraging, however, are the results of animal studies that suggest human trials of gene therapy to correct this genetic disorder may be only a few years away.
Speaking at the American Lung Association's Second Annual Science Writers' Forum in Annapolis, Md, Ronald G. Crystal, MD, chief, Pulmonary Branch, National Heart, Lung, and Blood Institute, Bethesda, Md, offered an explanation of how hereditary emphysema may be more amenable to genetic therapy than possibly such a disease as sickle cell anemia.
Most persons who lack a functioning gene for α1-antitrypsin will develop emphysema by the third or fourth decade of life. This