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

Abstract

A 63 year old woman with cryptogenic cirrhosis, astiles, portal hypertension, and intermediate levels of alpha-l-antitrypsin of prolease inhibitor SZ phenotype who died of esophageal variceal hemorrhage is described. The partial deficiency of alpha-1-arrtihypsin and the diagnosis of cirrhosis were suspected one year prior to death because a needle biopsy liver showed PAS positive, diastase resistant cyloplasmic bodies within hepatocyles. 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) 1n the older patients with aberrant alpha-1-anlilrypsin theflocculent material is present not only in the granular endoplasmic reticulmn but also in smooth endoplasmic reticulum vesicles and cytolysosomes. * Instructor in Pathology, Department of Pathology, University of Southern California School of Medicine, Los Angeles, California. † Instructor in Pathology, Department of Patholopr, University of Southern California School of Medicine, Los Angeles, California. ‡ Professor of Pathology, Department of Pathology, University of Southern California School of Medicine, Staff, John Wesley County Hospital, Los Angeles, California.