Diagnosis
This is made by assaying protease inhibitor activity, and typing proteins with isoelectric focusing.
Prenatal diagnosis is possible using oligonucleotide probes or intragenic restriction fragment length polymorphisms - RFLP's - to analyse DNA.
Levels of alpha1-antitrypsin are increased in all people in trauma, acute infections and pregnancy. This may bring levels of alpha-1 antitrypsin into the normal range in those with deficiency, and so delay diagnosis.
Reference
- Strand P, McElvaney NG, Lomas DA. Alpha1-Antitrypsin Deficiency. N Engl J Med. 2020 Apr 09;382(15):1443-1455.
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