Alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency is the most common genetic cause of liver disease in children. It is most frequently discovered because of prolonged jaundice in the newborn period. It also causes chronic hepatitis, cirrhosis and hepatocellular carcinoma in adulthood. The diagnosis is made by low levels and altered electrophoretic migration of alpha-1-antitrypsin in the serum. The vast majority of individuals with this deficiency will have little or no hepatic complications. Only 8% of a cohort identified by newborn screening developed progressive hepatic disease by the age of 30 years. Liver transplantation is the only therapy currently available for patients with severe progressive hepatic involvement