Cirrhosis and hepatocellular carcinoma in a patient with heterozygous (MZ) alpha-1-antitrypsin deficiency.
A patient is described with micronodular cirrhosis, partial (heterozygous, MZ) deficiency of alpha-1-antitrypsin (AAT) and hepatocellular carcinoma. The patient did not drink alcohol and all serological markers of infection with hepatitis B virus were absent. Death was due to intra-peritoneal bleeding from a multifocal liver tumour. Histology revealed multiple intracytoplasmic AAT globules in hepatocytes at the periphery of the cirrhotic nodules. Copper granules, present in the same non-neoplastic liver cells may have resulted from minor cholestasis. Within the neoplastic hepatocytes AAT globules were sparse and copper deposits co-existed with the globular variant of Mallory bodies. The case is presented in support of the postulated association of partial deficiency of AAT, chronic liver disease and hepatic neoplasia.
D000368:Aged; D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002779:Cholestasis / Q000473:pathology; D003300:Copper / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008113:Liver Neoplasms / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000032:analysis; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin; D003300:Copper