[alpha 1-Antitrypsin phenotypes in patients with chronic liver diseases]

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.