Alpha-1 antitrypsin (AAT) cause of COPD

The Alpha-1 antitrypsin (AAT) mpx RealFast™ Assay for COPD diagnoses is designed for the simultaneous detection of the protease inhibitor (PI) variants *S and *Z of the SERPINA1 gene. These are the most frequent alleles associated with alpha-1 antitrypsin deficiency. The kit is intended for use as a diagnostic tool to identify alpha-1 antitrypsin deficient patients carrying a PI*S or PI*Z allele.

Alpha-1 antitrypsin deficiency is one of the most common hereditary disorders in persons of northern European heritage and is effecting approximately 3 million people and is a underrecognized cause of COPD! Deficient variants are characterized by low serum levels of AAT and, for some alleles including the Z allele, also decreased enzymatic function. Unhindered proteolysis in the lungs causes damage of alveolar tissue and development of chronic obstructive pulmonary disease (i.e. emphysema, persistent airflow obstruction, and/or chronic bronchitis). Accumulation of abnormal AAT in the liver leads to liver disease, especially cirrhosis and hepatocellular carcinoma. Individuals carrying the PI*ZZ genotype are at a high risk of developing emphysema and liver disease, whereas the PI*SZ genotype is associated with a somewhat lower risk to become symptomatic.