alpha1antitrypsiinin

Alpha-1 antitrypsin (AAT), also known as alpha-1 protease inhibitor (PI), is a glycoprotein produced primarily in the liver that serves as a key component of the body’s natural defense system against inflammatory processes. It functions as a serine protease inhibitor, primarily targeting neutrophil elastase, a digestive enzyme released by white blood cells during inflammation. By inhibiting elastase, AAT helps prevent excessive tissue damage, particularly in the lungs and liver.

Deficiency of alpha-1 antitrypsin is a genetic condition caused by mutations in the *SERPINA1* gene, leading to reduced or dysfunctional AAT production. The most common mutation, associated with severe deficiency, is the Z allele (PiZZ genotype). Without adequate AAT, unchecked elastase activity can degrade lung tissue, resulting in chronic obstructive pulmonary disease (COPD), including emphysema, particularly in smokers or individuals exposed to lung irritants. Liver disease, such as cirrhosis or hepatocellular carcinoma, may also develop due to misfolded AAT accumulating in hepatocytes.

Diagnosis typically involves genetic testing to identify specific PI phenotypes (e.g., PiZZ, PiSZ) and serum AAT level measurements. Treatment for severe deficiency includes weekly intravenous or nebulized AAT replacement therapy to supplement deficient levels. Lung transplantation may be required in advanced cases. Smoking cessation is critical for affected individuals to slow disease progression. Liver-related complications are managed based on severity, ranging from supportive care to transplantation.

Alpha-1 antitrypsin deficiency is an inherited autosomal recessive disorder, meaning an individual must inherit two defective alleles (one from each parent) to develop the condition. Screening programs and newborn testing have been implemented in some regions to identify at-risk individuals early. Research continues into gene therapy and other potential treatments to address this complex genetic disorder.