Liver Disease in Adults with Alpha1-Antitrypsin Deficiency

Abstract

Examination of hepatic tissue obtained at autopsy (13 cases) and by biopsy (one case) from patients with homozygous alpha₁-antitrypsin deficiency showed that the hepatocytes contained periodic-acid-Schiff-positive globular material similar to that seen in infantile cirrhosis with alpha₁-antitrypsin deficiency. Five of the adult patients had cirrhosis, and three fibrosis of the liver; of these eight, all over 50 years of age, three also had hepatomas. Twelve of the 13 autopsy cases had either bullous or panacinar emphysema. The findings suggest that in alpha₁-antitrypsin deficiency liver disease and emphysema are linked to the same genetic defect.