Alpha 1 antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association

Br J Dis Chest. 1983 Jan;77(1):28-34. doi: 10.1016/0007-0971(83)90003-7.


In a multicentre survey of alpha 1 antitrypsin deficiency 25 heterozygotes of type SZ were identified. Fourteen index cases were identified through chest clinics and 11 non-index cases through family studies. Emphysema was largely confined to index males who had smoked and there was little evidence of the disease among the non-index cases. It appears that the SZ phenotype may carry little or no extra risk of emphysema.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Female
  • Heterozygote*
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Pulmonary Emphysema / genetics
  • Pulmonary Emphysema / physiopathology
  • Respiratory Function Tests
  • Smoking
  • alpha 1-Antitrypsin Deficiency*