What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for certain types of lung disease, especially if you smoke. AAT deficiency is an inherited condition. “Inherited” means it’s passed in the genes from parents to children. Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma) often when they’re only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe. A small number of people who have AAT deficiency have cirrhosis (sir-RO-sis) and other serious liver diseases. Cirrhosis is a disease in which the liver becomes scarred. This prevents the liver from working right. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood. A very small number of people who have AAT deficiency have a rare type of skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This skin disease can cause painf
