title: [alpha 1-Antitrypsin phenotypes in patients with chronic liver diseases].
abstract: In a 25-year-old man we had observed the development of a liver cirrhosis leading to death from bleeding of oesophageal varices within two years. An alpha 1-antitrypsin defect (MZ-type) was detected post mortem both by serum analysis and by tissue examination. It is well documented that homozygote, e.g. SS- or ZZ-type, antitrypsin defects are frequently accompanied by liver fibrosis or cirrhosis. In 174 patients with alcoholic hepatitis or alcohol-induced cirrhosis we demonstrated the distribution of alpha 1-antitrypsin phenotypes using gel electrofocussing to clarify whether the heterozygote alpha 1-antitrypsin defect--which is accompanied only occasionally by a slightly reduced total concentration of the alpha 1-antitrypsin in the blood--has an increased incidence in such patients. Compared to the healthy population (MS-type 4.0%), we observed 9,8% MS-type in the described 174 patients. This simultaneous occurrence of a chronic, alcohol-induced liver disease with the genetic aberration of the alpha 1-antitrypsin phenotype pattern is too frequent to be attributed to mere chance and may be one cause of the increased incidence of chronic liver diseases within families documented by clinicians.
mesh_terms: D000328:Adult; D005235:Fatty Liver, Alcoholic / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics*; D008104:Liver Cirrhosis, Alcoholic / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin
vernacular_title: alpha 1-Antitrypsin-Phänotypen bei Patienten mit chronischen Leberkrankheiten.