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Rare Condition Can Trigger Emphysema

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A reader of†Scientific American Consumer Health's Health After 50†newsletter writes: "My doctor says my emphysema may be caused by a condition called alpha-1 antitrypsin deficiency. What is it?" Here's what you need to know about this condition.

Alpha-1 antitrypsin deficiency is a rare, inherited condition that primarily affects the lungs. In most people, the liver produces a protein called alpha-1 antitrypsin (AAT). AAT provides protection from a potentially destructive enzyme known as neutrophil elastase. Neutrophil elastase fights infection, but it can also attack healthy tissues in the lungs and liver. People with AAT deficiency either donít make enough of this protein or they produce an abnormal form of it, both of which allow neutrophil elastase to accumulate and cause organ damage.

The first symptoms of AAT deficiency are usually shortness of breath, wheezing and a decreased ability to exercise. Sufferers may also experience weight loss, fatigue and recurring respiratory infections. Liver-related symptoms include yellowing of the eyes and skin, blood in the stool and abdominal swelling. About 15 percent of sufferers develop cirrhosis (liver scarring).

Although AAT deficiency can be diagnosed as early as age 20, itís not uncommon for people to be diagnosed with AAT deficiency in their 40s or 50s when breathing difficulties become more noticeable. The condition can be tough to spot because its symptoms overlap with those of common respiratory ailments like emphysema or asthma. A person may actually have these other conditions but never realize they have AAT deficiency as well. Others may live normally with no or mild symptoms and never know they have AAT.†

Posted in Lung Disorders on April 20, 2016

Medical Disclaimer: This information is not intended to substitute for the advice of a physician. Click here for additional information: Health After 50 Disclaimer

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