Alpha-1-antitrypsin deficiency associated with chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson.1 In 1969, Sharp2 described the first cases of alpha-1-antitrypsin-deficiency disease in children with cirrhosis. Since then, this inborn error has been recognized as one of the more common factors in cirrhosis of infancy and childhood,3 including “neonatal hepatitis.”4 Alpha-1-antitrypsin is a glycoprotein that accounts for a major portion of the alpha-1 globulin fraction of the serum.5 It is responsible for approximately 90 per cent of the antitrypsin activity6 of the serum, and it also inhibits several other plasma enzymes, including plasmin,7 elastase,8 collagenase,9 and chymotrypsin.10
Cirrhosis develops in about 15 per cent of patients with homozygous phenotype PiZZ (Pi = protease inhibitor),11 and there have been a few recent reports of cirrhosis in heterozygous patients.12,13 There has been no effective, specific medical treatment for such patients. This report will examine the place of orthotopic liver transplantation in the treatment of seven white patients who had end-stage liver disease due to alpha-1-antitrypsin deficiency. After transplantation, the phenotypes of the recipients became those of the donors, and alpha-1-antitrypsin levels were restored to normal. Thus, the metabolic basis of the disease was corrected for as long as the patients survived the transplantation procedure. Three of the patients are still alive after 13, 21, and 36 months. The others died between 12 days and 28 months after transplantation.