Liver disease in infancy: histological features and relationship to alpha-antitrypsin phenotype

Sixty-nine specimens of liver tissue from 53 infants with neonatal hepatitis or its sequelae were examined without knowledge of the alpha1-antitrypsin phenotype. Distinctive, diastase-resistant, PAS-positive, pure magenta-coloured, sharply defined globules, 2-20 microns in diameter were found in periportal and paraseptal hepatocytes in all liver biopsies from eight alpha1-antitrypsin deficient (PiZZ) infants biopsied after the age of 12 weeks. Such globules were not seen in biopsies from PiZZ individuals aged less than 12 weeks nor in individuals of normal alpha1-antitrypsin phenotype (PiMM). No other specific histological abnormality was found in PiZZ individuals, but in them giant-cell transformation was infrequent and liver damage was more severe, three of 14 cases developing cirrhosis in contrast to four of 27 PiMM subjects. The pathogenesis of liver disease in PiZZ individuals is discussed.