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AAT; alpha-1 proteinase inhibitor; alpha-1 related emphysema; genetic emphysema; hereditary pulmonary emphysema; inherit... 

Pulmonary Emphysema 

Alpha-1 is an inherited disorder that may result in you developing a serious lung/ liver disease and passing the defective AAT gene onto your children. An estimated 100,000 people in the U.S. and a similar number in Europe are estimated to have the severe deficiency. In normal individuals large amounts of alpha-1 antitrypsin (AAT) is made in the liver and released into the blood. In AAT deficient individuals, the AAT made in the liver cannot be fully released into the blood.

Pulmonary emphysema is a disorder affecting the alveoli (tiny air sacs) of the lungs. The transfer of oxygen and carbon dioxide in the lungs takes place in the walls of the alveoli. In emphysema, the alveoli become abnormally inflated, damaging their walls and making it harder to breathe. People who smoke or have chronic bronchitis have an increased risk of emphysema.


Alpha-1 Antitrypsin Deficiency as related to Emphysema