What is aat deficiency?

Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder that results in low levels of the protein AAT, which protects the lungs and liver from damage caused by enzymes like neutrophil elastase. This deficiency can lead to lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD), as well as liver problems like cirrhosis. The condition is inherited in an autosomal co-dominant manner, meaning that individuals can be carriers or affected based on the specific genetic variants they inherit. Diagnosis typically involves blood tests, and treatment may include lifestyle changes and, in severe cases, AAT replacement therapy.