While studying this condition I was surprised to learn that 200,000 people have been diagnosed with this condition, and this makes antitrypson 1 deficiency one of the most common hereditary disorders among Caucasians in the Western world, which includes Europe and the United States. Yet it's believed many who have it are not diagnosed (1).
Alpha 1 Antitrypson is a protein that is produced by liver cells and circulates in the blood and generally effects the lungs and liver. Elastase is a component of white blood cells used to kill invading bacteria and "neutralize invading particles inhaled into the lungs," according to National Jewish Health.
Once the job of elastase is complete, alpha 1 antitrypson inactivates elastase so that it does not destroy lung tissue. In the absense of alpha 1 antitrypson, elastase destroys lung tissue and this results in genetic emphysema.
Once a person has genetic emphysema diagnosis and treatment is the same as for any person with chronic obstructive pulmonary disease (COPD), and you can learn more by clicking here. The only difference is there is a blood test to check for alpha 1 antitrypson and other blood test to check for the gene that causes this genetic disorder.
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