Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes

Chest. 1991 Sep;100(3):703-8. doi: 10.1378/chest.100.3.703.

Abstract

Diagnosis of the hereditary disorder alpha 1-antitrypsin (alpha 1AT) deficiency is critically dependent on quantification of serum levels of alpha 1AT, a 52-kDa antiprotease that serves to protect the lung from destruction by neutrophil elastase. Although the measurement of serum alpha 1AT levels is not difficult, there is no international standard for alpha 1AT, and investigators in the field recognize that widely used commercially available standards vary by as much as 50 percent. To establish accurate ranges for the common normal and deficient alpha 1AT phenotypes, the present study uses a purified alpha 1AT standard to quantify the alpha 1AT serum levels of 443 individuals with common normal and deficient alpha 1AT phenotypes, including MM, ZZ, SS, MZ, MS, and SZ. Based on the observed values, a statistical model was developed to generate predicted frequency distributions of alpha 1AT serum levels for each of these phenotypes. Based on these studies, the ranges (5th to 95th percentile) for alpha 1AT serum levels of the common phenotypes are: MM, 20 to 53 mumol/L; SS, 20 to 48 mumol/L; ZZ, 3.4 to 7.0 mumol/L; MZ, 15 to 42 mumol/L; MS, 18 to 52 mumol/L; and SZ, 10 to 23 mumol/L. This alpha 1AT standard and these ranges are being used for the National alpha 1-Antitrypsin Deficiency Registry organized under the auspices of the National Heart, Lung, and Blood Institute.

MeSH terms

  • Electrophoresis, Polyacrylamide Gel
  • Humans
  • Phenotype
  • Reference Values
  • alpha 1-Antitrypsin / standards*
  • alpha 1-Antitrypsin Deficiency

Substances

  • alpha 1-Antitrypsin