ABSTRACT
α1-Antitrypsin (AT) deficiency was discovered in 1963, in five patients in whom the α1-globulin band was missing on agarose gel protein electrophoresis. The disease is a model in which an abnormal glycoprotein synthesized in the liver is not released from the hepatocyte into the circulation. The disease provides a model for the understanding of the processing of correctly and incorrectly folded glycoproteins in the endoplasmic reticulum. Hepatic manifestations of α1-AT deficiency were first recognized by the detection of the deficiency in 14 patients with liver disease. The diagnosis of α1-AT deficiency is by quantitative analysis of the content of α1-AT in serum. Immunologic techniques are the best. Treatment for hepatic disease is primarily supportive. This includes supplementation with vitamin K and vitamin D. Nevertheless, screening for α1-AT deficiency combined with a comprehensive program aimed at the avoidance of smoking could markedly decrease morbidity.
