Alpha-1 antitrypsin deficiency

Abstract

Alpha-1 antitrypsin deficiency (AATD) is a common cause of early onset emphysema and liver dysfunction that is related to low levels of the protease inhibitor, alpha-1 antitrypsin (AAT). This condition is inherited in a codominant fashion where different allele combinations are associated with varying severity. Proteolysis by the migrating neutrophils occurs when there is an imbalance between the proteases and the concentration of AAT, often referred to as the proteinase/antiproteinase deficiency. When diagnosing AATD, physicians should pursue phenotyping, whether it be isoelectric focusing, genotyping with allele specific amplification, or DNA analysis with PCR. Generally speaking, all patients should avoid tobacco containing products and sedentary lifestyles; also, they should receive regular vaccinations, but more specific therapies, such as, augmentation of AAT levels are employed. Specific treatments for AATD have been successful and are continuing to evolve.