Abstract
Ten patients among 11 persons homozygous for hereditary alpha-1 antitrypsin deficiency had chronic obstructive lung disease with exertional dyspnea as the prime symptom. Some also had wheezing and sputum production. Early in the course of the illness 5 of the patients were erroneously considered to have asthma. One patient was unique, lacking detectable levels at all. Assay of serum of family members was consistent with an autosomal codominant mode of inheritance in all families. Autopsy of the 2 patients who died showed extensive panacinar emphysema. One had in addition peribronchial inflammation, extensive squamous metaplasia of the tracheal and bronchial epithelium, and distinct degenerative changes of the tracheobronchial cartilage plaques.
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