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AAT may be elevated into normal range in heterozygous-deficient patients during concurrent infection, pregnancy, estrogen therapy, steroid therapy, cancer, and during postoperative periods. Homozygous-deficient patients will not show such elevation. Normal AAT levels may occur in patients with liver disease who are heterozygotes. In normals, pregnancy and contraceptive medication may elevate levels. Levels are normally low at birth but rise soon thereafter.
Genotyping tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay.
α1-antitrypsin therapy may alter the patient phenotype.
American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Resp Crit Care Med. 2003 Oct 1; 168(7):818-900. PubMed 14522813
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