title: Liver cirrhosis associated with heterozygous alpha-1-antitrypsin deficiency type Pi MS and autoimmune features.
abstract: Patients with homozygous protease inhibitor (Pi) type ZZ or a few rare M-like types may develop liver cirrhosis due to intracellular storage of alpha-antitrypsin (AAT), whereas some patients with heterozygous Pi MZ or SZ normally present with transient abnormal liver function tests in childhood. We report a 42-year-old obese patient who developed liver cirrhosis in association with heterozygous Pi MS (AAT) deficiency. Immunohistological and electron microscope examination showed storage of AAT in the hepatocytes. Interestingly, autoimmune features in this patient suggest that abnormal immune responses may contribute to the pathology of chronic liver disease.
authors.affiliation: I Department of Internal Medicine, Johannes Gutenberg University, Mainz, FRG.
authors.forename: H F
authors.initials: HF
authors.lastname: Löhr
authors.forename: J F
authors.initials: JF
authors.lastname: Schlaak
authors.forename: H P
authors.initials: HP
authors.lastname: Dienes
authors.forename: J
authors.initials: J
authors.lastname: Lorenz
authors.forename: K H
authors.initials: KH
authors.lastname: Meyer zum Büschenfelde
authors.forename: G
authors.initials: G
authors.lastname: Gerken
mesh_terms: D000328:Adult; D000437:Alcoholism / Q000150:complications; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics*; D016207:Cytokines / Q000032:analysis; D005434:Flow Cytometry; D006579:Heterozygote; D006801:Humans; D007124:Immunoenzyme Techniques; D008099:Liver / Q000737:chemistry / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008854:Microscopy, Electron; D009765:Obesity / Q000150:complications; D010641:Phenotype; D013601:T-Lymphocytes / Q000276:immunology; D000515:alpha 1-Antitrypsin / Q000032:analysis; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D016207:Cytokines; D000515:alpha 1-Antitrypsin