Alpha-1 Antitrypsin Deficiency

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Alpha-1 Antitrypsin Deficiency is a genetic disorder that can affect the liver and/or lungs. Alpha-1 Antitrypsin is a protein is a protein that is made in the liver and released into the bloodstream. This protein protects healthy tissue from enzymes. When someone doe not produced enough Alpha-1 Antitrypsin, then the enzyme can consume healthy tissue, and the lungs are attacked. For others with Allpha-1, the proteins that are being produced accumulate in the liver, causing damage and possible cirrhosis.

Alpha-1 liver disease can affect infants, children, and adults. For some, they may have a short time of having elevated liver enzymes that then return to normal. For others it can lead to liver failure and the need for a liver transplant. It is not quite clear as to why some individuals with Alpha-1 develop more serious complications than others. Most Alpha-1 liver research suggests that Alpha-1 liver cell damage is caused by misfolded abnormal Alpha-1 Antitrypsin protein build up in the liver.

Although Alpha-1 is one of the more common genetic disorders in the world, it is often misdiagnosed. Many patients are incorrectly diagnosed with asthma, bronchitis, smoking related emphysema, COPD and alcohol abuse. The most common indicators of Alpha-1 include shortness of breath, chronic cough, and abnormal liver test results. A simple blood test can detect the Alpha-1 Antitrypsin levels. Once diagnosed, a liver panel is used to detect, evaluate and monitor liver disease or damage.

There is no specific treatment for Alpha-1 associated liver disease. Clinical care is primarily focused on supportive measures, which address symptoms. Liver transplantation is sometimes a necessary life-saving measure. Fortunately, studies indicate that only a small percentage of the liver affected Alpha-1community require liver transplantation. Preventing potential complications is also important. Drink alcohol rarely, if at all. Read labels of over-the-counter medications or herbal supplements very careful to check for interactions with the liver. Discuss vitamins and supplements that you take with your healthcare provider. You should also avoid chemicals that can be absorbed through the skin, this includes bleach, ammonia and other cleaning solvents.

Research is currently underway to evaluate ways to protect the liver or even to make the liver release the Alpha-1 Antitrypsin protein trapped within the liver cells. If successful, such a treatment could lead to a cure for Alpha-1.

To learn more about Alpha-1 Antitrypsin Deficiency go to www.alpha1.org.