[Liver changes suggesting alpha-1-antitrypsin deficiency (a neglected disease)]

Abstract

Liver needle biopsies of one hundred infants and children were examined. In fifteen of them the liver was normal. Of the 85 patients with liver disease three had liver changes due to severe alpha-1-antitrypsin (AAT) deficiency. In two cases fibrosis and inflammation of the portal fields could be seen. In the third case in addition to portal fibrosis and moderate periportal inflammation paucity of the intrahepatic bile ducts was found. Characteristic PAS-positive diastase resistant hepatocellular globules occurred only in one case but, using immunoperoxydase method, periportal hepatocytes showed AAT positivity in all three infants. Of 830 adult patients with liver cirrhosis 8 had PAS-positive diastase resistant AAT immunoreactive globules in the periseptal hepatocytes suggesting AAT deficiency, however, the serum AAT level and the phenotype of them were unknown. Investigation for AAT deficiency should be carried out in children and young adults with a history of neonatal liver disease and possibly in all patients with liver disease of uncertain etiology, especially in those with PAS-positive, AAT immunoreactive hepatocellular globules.