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Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study.
  1. C P Kelly,
  2. D N Tyrrell,
  3. G S McDonald,
  4. D B Whitehouse,
  5. J S Prichard
  1. Department of Clinical Medicine, Trinity College, Dublin, Ireland.


    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.

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