Surgery 1977 Mar;81(3):258-61

Liver replacement for alpha1-antitrypsin deficiency

Putnam CW, Porter KA, Peters RL, Ashcavai M, Redeker AG, Starzl TE

Abstract
A 16-year-old girl with advanced cirrhosis and severe alpha 1-antitrypsin
deficiency of the homozygous Pi ZZ phenotype was treated by orthotopic liver
transplantation. After replacement of the liver with a homograft from a donor
with the normal Pi MM phenotype, the alpha 1-antitrypsin concentration in the
recipient's serum rose to normal; it had the Pi MM phenotype. Two and a third
years later, chronic rejection necessitated retransplantation. Insertion of a
homograft from a heterozygous Pi MZ donor was followed by the identification of
that phenotype in the recipient's serum. Neither liver graft developed the alpha
1-antitrypsin glycoprotein deposits seen with the deficiency state. These
observations confirm that this hepatic-based inborn error of metabolism is
metabolically cured by liver replacement