What is alpha-1 antitrypsin?
Alpha-1 antitrypsin is a protein synthesized by the liver. It acts to inhibit certain enzymes in the liver. Its level increases during infection, cirrhosis and obstruction to flow of bile.

What is alpha-1 antitrypsin deficiency?
It is a genetic disorder where there is deficiency of alpha-1 antitrypsin. This is due to mutations in the gene that encodes formation of this protein.

What are the symptoms of alpha-1 antitrypsin deficiency?
Patients with alpha-1 antitrypsin deficiency present as jaundice in the newborn period. Some of them may have white stools and your doctor on examination may get an enlarged liver. The jaundice usually clears between 2^nd – 4^th month of age but some may go on to develop chronic liver disease or even cirrhosis. In older children, there may be chronic liver damage. In some individuals especially adults, lung disease called as emphysema (pronounced as M-fi-see-ma) can occur in the 3^rd or 4^th decade of life. These adults may present as wheezing, breathlessness and cough.

Why does liver or lung damage occur in alpha 1-Antitrypsin deficiency?
The exact cause why liver damage occurs in not known but is due to low circulatory levels of alpha-1 antitrypsin in the blood. Alpha-1 antitrypsin helps to inactivate harmful enzymes released from dead bacteria in the lung. Thus deficiency leads to accumulation of these enzymes and destruction of the lung tissue.

How is the diagnosis of alpha-1 antitrypsin deficiency made?
The diagnosis of alpha-1 antitrypsin deficiency is by measuring its level in the blood which would be low. Liver biopsy may help to identify by doing special stains such as PAS stain. (The liver tissue will be PAS positive).

What is the treatment of Alpha-1 antitrypsin deficiency?
Liver transplantation is the curative treatment. There is no other effective treatment for liver disease as yet, but gene therapy may become possible. For lung disease, danazol (a testosterone derivative) helps to increase synthesis of Alpha-1 antitrypsin in the liver. However long term use is limited due to masculinizing effect in women and overall side effects in both men and women.

Enzyme replacement with alpha-1 antitrypsin can be done. Patients with lung disease should avoid cigarette smoking and exposure to industrial fumes. Also pneumococcal vaccine and influenza vaccine should be taken to prevent lung infections due to these organisms.

Last updated on 01-08-2008