History: A 53 year-old woman presented with an elevated serum aminotransferase and cirrhosis of the liver of unknown cause. She reported neither alcohol nor drug abuse and had no previous serious illness. She had smoked about 10 pack years of cigarettes in the past.
Investigations: Serological markers were negative for infectious agents, hemochromatosis, Wilson's disease and autoimmune diseases. Serum electrophoresis showed a decrease of the alpha1-globulin fraction (1 %; normal: 1.5 - 4.0); serum alpha1-antitrypsin was very low at 0.25 ng/l (normal: 0.9 - 2.0). The histology revealed liver cirrhosis due to alpha1-proteinase-inhibitor deficiency. Genetic testing proved a PiZZ type of proteinase-inhibitor deficiency. The patient had normal lung functions. Because of the increased risk of hepatocellular carcinoma, future sonographic monitoring and alpha-fetoprotein measurements every 6 months were recommended.
Treatment and course: As lung functions were normal there was no indication for administering alpha1-antitrypsin.
Conclusion: Although proteinase-inhibitor deficiency is a rare cause of liver cirrhosis, especially without any sign of emphysema, it should be considered when other, more common causes of liver cirrhosis are excluded.