What is it? Alpha-1-anti-trypsin deficiency is an inherited disorder that can cause lung and liver disease. Alpha-1 antitrypsin is a protein, usually made by the liver, that protects the lungs. Because of a gene problem, some people have little or none of it. Not having enough of the protein increases the risk of developing emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40.
How do you know if you have it? It can be diagnosed with a blood test.
What's the treatment? The deficiency can be treated but not cured. One treatment involves adding to or replacing the missing protein. A lung transplant also could be an option for the seriously ill.
National Institutes of Health
