Cirrhosis and hepatocellular carcinoma in a patient with heterozygous (MZ) alpha-1-antitrypsin deficiency

Pathology. 1985 Oct;17(4):649-52. doi: 10.3109/00313028509084770.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Carcinoma, Hepatocellular / complications
  • Carcinoma, Hepatocellular / genetics
  • Carcinoma, Hepatocellular / metabolism
  • Carcinoma, Hepatocellular / pathology*
  • Cholestasis / pathology
  • Copper / analysis
  • Heterozygote
  • Humans
  • Liver / pathology
  • Liver Cirrhosis / complications
  • Liver Cirrhosis / genetics
  • Liver Cirrhosis / metabolism
  • Liver Cirrhosis / pathology*
  • Liver Neoplasms / complications
  • Liver Neoplasms / genetics
  • Liver Neoplasms / metabolism
  • Liver Neoplasms / pathology*
  • Male
  • Phenotype
  • alpha 1-Antitrypsin / analysis
  • alpha 1-Antitrypsin Deficiency*

Substances

  • alpha 1-Antitrypsin
  • Copper