α1-Antitrypsin Deficiency

α1-Antitrypsin Deficiency is a topic covered in the Washington Manual of Medical Therapeutics.

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General Principles

  • α1-Antitrypsin (α1AT) deficiency is an autosomal recessive disease associated 
with accumulation of misfolded α1AT in the endoplasmic reticulum of hepatocytes. The most common allele is protease inhibitor M (PiM—normal), followed by PiS and PiZ (deficient variants). African Americans have a lower frequency of these alleles.
  • The most prevalent deficiency alleles Z and S are derived from European ancestry.1
  • α1AT deficiency can also be associated with emphysema in early adulthood, as well as other extrahepatic manifestations including panniculitis, pancreatic fibrosis, and membranoproliferative glomerulonephritis.

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