ALPHA-1-ANTITRYPSIN DEFICIENCY AND LIVER-DISEASE IN ADULTS

  • 1 January 1976
    • journal article
    • research article
    • Vol. 45  (178) , 351-372
Abstract
Thirteen adult patients (aged 16-73 yr) from 12 families are described with liver disease and .alpha.-1-antitrypsin deficiency. Long-term observation suggests that the liver disease may be slowly progressive, but review of possible factors aggravating this has not revealed any clues. Progression to death from hepatic failure was the most common outcome; 1 patient developed a malignant hepatoma and 2 others died due to i.p. hemorrhage from ruptured cirrhotic nodules. Diagnosis of .alpha.-1-antitrypsin deficiency was based on serological, histological, immunopathological and genetic studies. The most useful screening test in liver disease was demonstration of PAS positive globules in liver biopsy material which is diagnostic when shown to be antigenically identical with .alpha.-1-antitrypsin by immunofluorescence or immunoperoxidase, the latter being a superior technique. Serum estimation of .alpha.-1-antitrypsin deficiency was performed by immunoelectrophoretic and immunodiffusion techniques, the former being more consistent, Neither method was of great value since wide variations in the serum values are commonly found in normal and abnormal states. Genotyping using starch gel electrophoresis is useful in family studies, but its value as a diagnostic aid is limited due to technical difficulties and because .alpha.-1-antitrypsin accumulation in the liver occurs in both homozygous and heterozygous states. Adult liver disease, associated with abnormalities in .alpha.-1-antitrypsin, may be more common than has been reported. This condition should be sought in all cases of liver disease of uncertain etiology.

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