Alpha1antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z: A survey by the British Thoracic Association☆

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Abstract

Hereditary deficiency of alpha1antitrypsin, the main serum inhibitor of proteolytic enzymes is associated with pulmonary emphysema of early onset. A multicentre survey of this disorder was started in 1976 and details of 166 subjects homozygous for the Z phenotype form the main body of this report. There were 126 index cases who were identified through chest clinics and 40 non-index cases who were identified through family studies. The index cases and many of the non-index cases had severe radiological and physiological abnormalities. A history of cigarette smoking had a significant effect upon the prognosis, but sex and occupational exposure to dust or fumes did not. There was a wide variance in lung function even among those who had never smoked.

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    ☆

    This study was coordinated by Dr D. C. S. Hutchison on behalf of a subcommittee of the Research Committee of the British Thoracic Association. Members of the subcommittee were: Professor J. G. Scadding (Chairman), Mr G. Berry, Dr P. J. L. Cook, Professor C. M. Fletcher (resigned 1979), Dr E. A. Hills (resigned 1980), Dr D. C. S. Hutchison, Dr S. J. Pearce, Dr G. M. Sterling and Professor M. Turner-Warwick (resigned 1975).

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    Copyright © 1983 Published by Elsevier Ltd.