Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study

Thorax. 1989 Sep;44(9):758-9. doi: 10.1136/thx.44.9.758.

Abstract

A patient with advanced emphysema and cor pulmonale had the changes of alpha 1 antitrypsin deficiency in a liver biopsy specimen and was shown to have the phenotype PiFZ. This case supports the contention that the F allele of alpha 1 antitrypsin predisposes to the development of emphysema, particularly when it occurs in conjunction with the Z allele.

Publication types

  • Case Reports

MeSH terms

  • Emphysema / complications*
  • Emphysema / genetics
  • Female
  • Humans
  • Liver Diseases / complications*
  • Liver Diseases / genetics
  • Middle Aged
  • Pedigree
  • Phenotype
  • Pulmonary Heart Disease / complications
  • alpha 1-Antitrypsin Deficiency*