Alternative Names & Classifications:
Alpha-1 (CLINICAL), Alpha-1 Antitrypsin Deficiency (CLINICAL)
Description
This condition is caused by a mutation in the SERPINA1 gene, which instructs the body to make the alpha-1 antitrypsin (AAT) protein. AAT normally protects the lungs from inflammation, but in this disorder, the misfolded protein gets trapped in the liver, leaving the lungs vulnerable to destruction. It primarily affects adults and is a leading genetic cause of emphysema.