Alpha1-Antitrypsin Deficiency: A Cause of Chronic Liver Disease

Clin Liver Dis. 2020 Aug;24(3):483-492. doi: 10.1016/j.cld.2020.04.010. Epub 2020 Jun 2.

Abstract

Alpha1-antitrypsin deficiency (A1ATD) is an inherited cause of chronic liver disease. It is inherited in an autosomal codominant pattern with each inherited allele expressed in the formation of the final protein, which is primarily produced in hepatocytes. The disease usually occurs in pediatric and elderly populations. The disease occurs with the accumulation of abnormal protein polymers within hepatocytes that can induce liver injury and fibrosis. It is a commonly under-recognized and underdiagnosed condition. Patients diagnosed with the disease should be regularly monitored for the development of liver disease. Liver transplant is of proven benefit in A1ATD liver disease.

Keywords: Alpha1-antitrypsin; Cirrhosis; SERPINA1.

Publication types

  • Review

MeSH terms

  • Animals
  • Chronic Disease
  • Genotype
  • Humans
  • Liver Diseases / diagnosis*
  • Liver Diseases / etiology*
  • Liver Diseases / surgery
  • Liver Transplantation
  • Phenotype
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin Deficiency / complications*
  • alpha 1-Antitrypsin Deficiency / drug therapy
  • alpha 1-Antitrypsin Deficiency / genetics*

Substances

  • SERPINA1 protein, human
  • alpha 1-Antitrypsin