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.

Original languageEnglish
Title of host publicationThe Liver
Subtitle of host publicationBiology and Pathobiology
Number of pages14
ISBN (Electronic)9781119436812
ISBN (Print)9781119436829
StatePublished - Jan 24 2020


  • Deficiency variants
  • Differential diagnosis
  • Genomic analyses
  • Liver disease
  • Liver transplantation
  • α1-antitrypsin deficiency


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