Liver Disease due to Alpha-1 Antitrypsin Deficiency: Are we surprised that it is more complex than we thought?
Alpha-1 antitrypsin deficiency (AATD) resulting from mutations in the SERPINA1 gene is associated with decreased circulating level of alpha-1 antitrypsin, and homozygosity for the Z allele is well-known to result in both lung disease (in the form of emphysema) and liver disease (1). Historically, the liver disease has been described as being different at different times in life. Thus, AATD is a cause of neonatal hepatitis and jaundice (2), has been shown to be associated with a picture of chronic hepatitis and, finally, is associated with cirrhosis and end stage liver disease including hepatocellular carcinoma (HCC) (2-4). This article is protected by copyright. All rights reserved.