Progression of morphological changes after transplantation of a liver with heterozygous α-1 antitrypsin deficiency

Abstract

Inadvertent transplantation of an α-1 antitrypsin-deficient liver into an adult man provided a unique opportunity to follow the natural history of morphological changes in serial liver biopsies. After doing well initially, the patient developed liver function test abnormalities 6 years posttransplant, but biopsies at that time and 2 years later revealed only chronic hepatitis with no specific features. It was only upon repeat biopsy 10 years posttransplant that characteristic cytoplasmic inclusions appeared. Genotypic and phenotypic testing of pretransplant and posttransplant specimens confirmed α-1 antitrypsin deficiency in the transplanted liver. Serologic tests for viral hepatitis and autoimmune disease were negative throughout the pretransplant and posttransplant period. The case suggests that patients with chronic hepatitis of unknown etiology should be tested for the possibility of α-1 antitrypsin deficiency and illustrates the prolonged course that may precede the development of typical cytoplasmic inclusions in the liver.