Heterozygous FZ α1 antitrypsin deficiency associated with severe emphysema and hepatic disease: Case report and family study

Abstract

A patient with advanced emphysema and cor pulmonale had the changes of α1 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 α1 antitrypsin predisposes to the development of emphysema, particularly when it occurs in conjunction with the Z allele.