Alpha1-Antitrypsin Deficiency

Abstract

(First of Two Parts)FIFTEEN years ago Laurell and Eriksson discovered a genetically determined deficiency in a major serum protease inhibitor.¹ They also noted a striking association between the deficiency and the early onset of severe emphysema. Five years later Sharp observed a less obvious relation with childhood cirrhosis.² Although there has been a resultant interest in seeking out persons afflicted with the deficiency to advise them on preventive measures and genetic risks, the major importance of these discoveries may lie in the clues that they have provided for basic research into the pathogenesis of emphysema and idiopathic hepatic cirrhosis. . . .