alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency is a genetic condition where the body does not produce enough of a protein called alpha-1 antitrypsin (AAT). This protein helps protect the lungs and liver from damage caused by enzymes released during inflammation. Without sufficient AAT, individuals may develop lung diseases, such as chronic obstructive pulmonary disease (COPD), and liver problems, including cirrhosis.
The deficiency is inherited in an autosomal co-dominant manner, meaning that a person can inherit the condition from either parent. Diagnosis typically involves blood tests to measure AAT levels. Treatment may include lifestyle changes, medications, and, in severe cases, liver transplantation.