Transplantation 1996 May 27;61(10):1488-95

Transplantation for end stage liver disease related to alpha 1 antitrypsin

Vennarecci G, Gunson BK, Ismail T, Hubscher SG, Kelly DA, McMaster P, Elias E

Abstract
Alpha 1 antitrypsin deficiency (AT) is an autosomal recessive disease associated
with chronic liver disease in adults and children and emphysema in adults. The
disease is one of the most common inherited disorders of the Caucasian
population of North Europe and North America and is the most common genetic
reason for pediatric orthotopic liver transplantation (OLTx), although it is a
rare indication in adults. The natural history of the disease is unpredictable
and the pathogenesis of the liver injury unclear. Thirty-five patients with
histologically apparent alpha 1 AT accumulation in the liver (22 adults, 13
children) have 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 adult patients were
heterozygotes presenting with portal hypertension and liver cirrhosis. Current
one-year posttransplant survival figures are 73% for adults and 87.5% for
children. Replacement of the cirrhotic liver results in acquisition of the donor
phenotype, a rise in serum levels of alpha 1 antitrypsin, and apparent
prevention of associated disease