The Washington Manual of Medical Therapeutics helps you diagnose and treat hundreds of medical conditions. Consult clinical recommendations from a resource that has been trusted on the wards for 50+ years. Explore these free sample topics:
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- 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.