CLINICAL, EPIDEMIOLOGIC, AND PULMONARY-FUNCTION STUDIES IN ALPHA-1-ANTITRYPSIN-DEFICIENT SUBJECTS OF PI Z-TYPE

Abstract

The results of pulmonary function testing and systematic medical history and epidemiologic data collection are reported for 20 persons with .alpha.1-antitrypsin deficiency of Pi Z phenotype. The most common symptom, reported in 19 subjects (95%), was dyspnea on exertion; 16 subjects (80%) gave a history of wheezing, and 8 (40%) reported chronic cough and sputum production. The 8 women who had been pregnant reported a miscarriage rate of 29% for all pregnancies. Respiratory symptoms and disease were commonly reported in the children of study subjects. Pulmonary function testing revealed abnormalities for 18 of 20 subjects, all of those .gtoreq. 26 yr of age. The most frequently abnormal test was the 1 s forced expiratory volume expressed as a percent of the forced vital capacity. All pulmonary function studies demonstrated a trend toward increased impairment with increased age, which was evident by the 4th decade. Within this group of persons having severe .alpha.1-antitrypsin deficiency, there was no correlation between serum concentrations of antitrypsin and subjective or objective indices of pulmonary disease. A group of 7 subjects incidentally found to have Pi Z .alpha.1-antitrypsin deficiency exhibited symptoms and pulmonary function abnormalities comparable to those of 13 subjects originally referred for known or suspected pulmonary diseases. If interventions such as smoking cessation and occupational counseling are to be effective, they should be initiated before the 4th decade of life.