[Alpha-1-antitrypsin deficiency and liver diseases]

Authors studied liver biopsy of hundred infants and young children. 15 livers were normal and three of 85 patients suffering from liver disease had liver changes associated with serious alpha--1-antitrypsin (AAT) deficiency (in two cases with portal fibrosis associated with inflammation, in one case with portal fibrosis associated with moderate active inflammation of reduction of intrahepatic biliary ducts). Typical positive, diastase resistant globules were in the hepatocytes of only one patient, but AAT could be demonstrated in periportal liver cells of all three patients by AAT specific immuneperoxidase method. Of 830 hepatic cirrhosises in adult age, in eight cases PAS positive, diastase-resistant AAT immunreactive globules occurred in periportal hepatocytes, suggesting AAT deficiency; however, the AAT level and fenotype of these patients were not known. Examination of possibility of AAT deficiency should be performed in every case, where the cause of liver disease is unsolved; this examination is especially indicated by the presence of typical PAS positive, diastase-resistant, AAT immunreactive globules in hepatocytes.