Hepatocellular Carcinoma and Partial Deficiency of Alpha-1 Antitrypsin (MZ)

Z allele alpha-1 antitrypsin deficiency has been associated with hepatic fibrosis and cirrhosis. Previous case reports have suggested an association between the homozygous (ZZ) state and hepatocellular carcinoma. Two patients are presented who had cryptogenic liver disease and alpha-1 antitrypsin deficiency of the MZ phenotype. At postmortem both were found to have hepatocellular carcinoma. The rarity of both the Z allele and hepatocellular carcinoma may suggest an association between heterozygous Z allele alpha-1 antitrypsin deficiency and this malignancy.