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Alpha-1 Antitrypsin Deficiency

Alpha-1-antintrypsin deficiency is a genetic disorder that can cause damage to both the liver and lungs in children and adult.  In adults between the age of 20 and 50, the first signs of lung disease due to alpha-1-antitrypsin deficiency will be seen.  Initially, symptoms of shortness of breath, reduced exercise capacity, and wheezing will be noted.  Unexplained weight loss and chronic respiratory infections associated with fever and rapid heart rate are additional findings that may be reported.  As the lung disease advances, emphysema will develop.
It is estimated that 10% of infants and 15% of adults with alpha-1-antitrypsin deficiency will also have liver damage.  In these cases, signs of liver insufficiency will develop, which will include complications of portal hypertension, edema, and jaundice.  In North America, the frequency of alpha-1-antitrypsin deficiency occurs in approximately 1 in 5000 to 7000 people.

Alpha-1-antitrypsin is a specialized protein that is manufactured in the liver.  Its job is to protect the lungs.  A deficiency in alpha-1-antitrypsin leads to progressive lung disease.  In the liver when cirrhosis develops, like so many other causes of cirrhosis, liver transplantation in the most advanced cases needs to be discussed.

Treatments for alpha-1-antitrypsin deficiency consist of weekly intravenous infusions of alpha-1-antitrypsin, which is manufactured from human plasma.  By doing this, the concentrations of this protein are elevated in the blood and lungs.  This augmentation therapy is the only FDA approved treatment for alpha-1-antitrypsin deficiency.  From a research standpoint, long-term controlled clinical trials have not yet been done to show that augmentation therapy alters the course of the lung or liver disease.

Alpha-1-antitrypsin deficiency is diagnosed by measurement of alpha-1-antitrypsin in the blood as well as genetic testing to determine the individual’s genetic makeup.