What is Alpha-1 Antitrypsin Deficiency? (A1AD)
Alpha-1 antitrypsin deficiency (A1AD) is a genetic disorder that can produce emphysema in the lungs, cirrhosis of the liver, and occasionally inflammation in the fat layer of the skin (called panniculitis).
Alpha-1-antitrypsin (AAT) is a protein made in the liver that then circulates in the blood. Its job is to protect the lungs from the inflammation produced when the body's immune system fights infection and inhaled irritants such as tobacco smoke. This battle by the immune system against inhaled particles and germs will result in release of digestive enzymes from the broken down cells. These enzymes will damage the lung tissue itself unless they are mopped up and disposed of, which is exactly the job that AAT does. So without it, lung damage results, in the form of emphysema.
The shortage of AAT in the blood happens when the AAT protein made in the liver is abnormal and does not get released by the liver cells at the normal rate. The build up of AAT in the liver cells causes damage leading to liver disease.
This has led some to describe AAT as the only condition where you can get “...emphysema without smoking, cirrhosis without drinking...”