αl-antitrypsin deficiency

The classical form of α1-antitrypsin (α1-AT) deficiency, homozygous for the mutant α1-ATZ allele, is a relatively common disease. It affects approximately 1 in 1600 to 1 in 2000 live births in most populations of Northern European ancestry. Historically, the diagnosis of α1-AT deficiency was based on the altered migration of the abnormal α1-ATZ molecule in serum specimens subjected to isoelectric focusing gel analysis. Contemporary diagnostic strategies may now employ genomic analyses for specific gene mutations. Treatment of α1-AT deficiency-associated liver disease remains mostly supportive. Liver replacement therapy has been used successfully for severe liver injury. Hepatocyte transplantation therapy has also been investigated as a potential treatment for α1-antitrypsin deficiency. Compared to orthotopic liver transplantation it has the advantage of being a minimally invasive procedure with little known morbidity, and is considerably less expensive than protein replacement therapy or liver transplantation.