Cirrhosis associated with partial deficiency of alpha-1-antitrypsin: a clinical and autopsy study

Abstract

A 63 year old woman with cryptogenic cirrhosis, ascites, portal hypertension, and intermediate levels of alpha-1-antitrypsin of protease inhibitor SZ phenotype who died of esophageal variceal hemorrhage is described. The partial deficiency of alpha-1-antitrypsin and the diagnosis of cirrhosis were suspected one year prior to death because a needle biopsy of liver showed PAS positive, diastase resistant cytoplasmic bodies within hepatocytes. This report illustrates three previously undescribed features: (1) Heterozygous protease inhibitor SZ phenotype may be associated with coarsely nodular cirrhosis in the older adult. (2) The large intracytoplasmic glycoprotein droplets that are distinctive by light microscopy are probably formalin induced aggregates of submicroscopic flocculent material. (3) In the older patients with aberrant alpha-1-antitrypsin the flocculent material is present not only in the granular endoplasmic reticulum but also in smooth endoplasmic reticulum vesicles and cytolysosomes.