Alpha-1-antitrypsin is a protein made within the liver and secreted into the blood. In the blood this protein is important to inactive certain enzymes which could damage other organs such as the lung. Patients with alpha-1-antitrypsin deficiency have low levels of this protein in the blood because this protein remains trapped within the liver. This causes increasing amounts of this protein to accumulate within the liver and this leads to liver damage and cirrhosis.
Alpha-1-antitrypsin deficiency is a genetic disease. It is not contagious. Two forms of the disease exit. Total deficiency where very little alpha-1-antitrypsin is in the blood and a partial deficiency where the level of alpha-1-antitrypsin within the blood is about half the normal amount. Patients with total deficiency are at risk to develop either lung disease or cirrhosis. For some reason that is not understood, it is very uncommon to develop both liver and lung disease from total deficiency. Why some patients develop lung disease and others develop liver disease is also not understood.
Patients with partial deficiency do not develop lung disease. Until recently it was also thought that patients with partial deficiency did not develop liver disease either. However, it is now believed that patients with the partial deficiency are at increased risk to develop cirrhosis because their liver is more susceptible to injury from other causes. It is therefore recommended that patients with partial deficiency should not consume alcohol on a regular basis and should avoid medications which could harm the liver.
There is no treatment for alpha-1-antitrypsin deficiency. Patients who develop cirrhosis and liver failure can undergo liver transplant as long as they do not also have significant lung disease.
Dr. Shiffman and April Long, NP at the Liver Institute of Virginia have a vast experience monitoring and caring for patients with alpha-1-antitrypsin deficiency and could educate patients and their families regarding the implications of this disease and how this should be monitored.