Genetic problem: Because of this gene mutation, body becomes deficient in Alpha -1 - antitrypsin protein and manifests as chronic lung disease, just like in COPD pts but affects a younger population and affects the bases of the lung more than the apices.. Fortunately it is available to take on a daily basis to bring the levels of a1at within 'normal' range.
Answered 6/24/2014
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Genetic disease: It's quite variable in severity. The lack of the helpful antitrypsin protein in the blood prevents the neutralization of enzymes from white cells that tend to decrease the elasticity of the lungs. The enzyme itself accumulates in the liver which can't get it into the circulation and this can ruin the liver. This can happen at any age and no one knows why it varies so much; or the liver may be fine.
Answered 1/19/2014
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