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ABSTRACT

Alpha-1-antitrypsin deficiency (AATD) is a common yet clinically under-recognized genetic disorder affecting the liver, lungs and rarely the skin. It is characterized by a lack of the protein the disease is named for, alpha-1-antitrypsin. While considered a disease diagnosed primarily in adulthood, this disorder is now increasingly recognized in the pediatric population. 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. 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 is isoelectric focusing, genotyping with allele specific amplification, or DNA analysis with polymerase chain reaction (PCR). Generally speaking, all patients should avoid tobacco containing products, sedentary lifestyle, and avoidable environmental exposures. Specific treatments for AATD deficiency have been successful and are continuing to evolve.

Keywords: Alpha-1-antitrypsin deficiency (AATD), genetic disorders, diagnosis, United States