TRANSPLANTATION FOR END-STAGE LIVER-DISEASE RELATED TO ALPHA-1-ANTITRYPSIN

Alpha 1 antitrypsin deficiency (AT) is an autosomal recessive disease associated with chronic liver disease in adults and children and emphy sema in adults. The disease is one of the most common inherited disord ers of the Caucasian population of North Europe and North America and is the most common genetic reason for pediatric orthotopic liver trans plantation (OLTx), although it is a rare indication in adults. The nat ural history of the disease is unpredictable and the pathogenesis of t he liver injury unclear. Thirty-five patients with histologically appa rent alpha 1 AT accumulation in the liver (22 adults, 13 children) hav e been transplanted in this center. Clinical features were correlated with the pretransplant phenotype, serum alpha 1 antitrypsin levels and potential precipitating factors. All children were PiZZ homozygotes, most of whom had presented with neonatal hepatitis. The majority of ad ult patients were heterozygotes presenting with portal hypertension an d liver cirrhosis. Current one-year posttransplant survival figures ar e 73% for adults and 87.5% for children. Replacement of the cirrhotic liver results in acquisition of the donor phenotype, a rise in serum l evels of alpha 1 antitrypsin, and apparent prevention of associated di sease.