Understanding Alpha-1 Antitrypsin and Alpha-1 Antitrypsin Deficiency

Not everyone who is diagnosed with emphysema (a type of COPD or Chronic Obstructive Pulmonary Disease) got it from smoking, or even from being around air pollution for many years. There is a rare disorder that is passed down through genes, called Alpha-1 Antitrypsin (AAT). This genetic disorder is treatable, so that if you are diagnosed early, proper treatment can be used, and you won't lose so much of your lung function.

You can chock this all up to the complexity of the human body not developing correctly. Genetically, Alpha-1 Antitrypsin is caused when the 14th chromosome doesn't develop correctly in the womb. This chromosome is involved with producing the substance Alpha-1 Antitrypsin in the liver. It's caused when the liver cannot produce this substance, or when it's produced with errors.

When AAT isn't produced correctly, it's unable to counteract the natural enzyme neutrophil elastase the way it should. The overabundance of neutrophil elastase causes damage to lung tissue, much the way the toxins in cigarettes and other types of tobacco smoke would. This causes a form of emphysema over time, which can start to show itself early in life – earlier than it would have if caused by smoking or pollution.

If you have Alpha-1 Antitrypsin Deficiency, or Alpha-1, you aren't alone, even though only about 1% of all known cases of emphysema are caused by AAT. According to statistics, around 90,000 Americans are going on undiagnosed with AAT. It can come on so mild, that it's hard to detect early on with clinical testing.

Diagnosis and Treatment for Alpha-1 Antitrypsin Deficiency

Who should be tested for AAT? Anyone who has a known family history of the disorder, for sure, since this can be passed down through the genes. You should also be tested if you have a family history of lung disease or liver disease, since this is also a condition of the liver and originates from a disorder of the liver.

If a child is born with a liver disease that is otherwise unexplainable, he or she can be suspected to have AAT, and should be tested. Someone with a dramatic decreased tolerance for exercise, swollen limbs and symptoms similar to asthma, with no prior history of asthma, should be considered and tested for AAT.

Testing for AAT is done with blood tests and genetic testing. They will be able to detect a deficiency of Alpha-1 Antitrypsin with the blood testing, and a genetic test can help to narrow down if the certain genes are causing the problem. After a positive result, family members should be tested to see if they are Alpha-1 Antitrypsin Deficient.

If you are diagnosed with Alpha-1 Antitrypsin Deficiency, your doctor will likely order augmentation therapy, which is a series of weekly IV infusions of Alpha-1 Antitrypsin taken from human plasma. You might also be a candidate for a liver or lung transplants to fix the problem. If you receive augmentation therapy, you might also be prescribed medicine for help with lung function in the meantime.

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