LabGenetic Emphysema Testing (Alpha-1 Antitrypsin Deficiency Test)

While emphysema can be a consequence of heavy smoking, it can also be an inherited. A rare genetic disorder, called Alpha-1 Antitrypsin Deficiency, can be passed on when both parents posses the gene.  Alpha-1 antitrypsin deficiency occurs when the body doesn’t make enough of the normal protein to protect the lungs from an enzyme (neutrophil elastase) that digests bacteria found in the lungs. When the body is unable to produce enough protein to protect the lungs, the enzyme begins to attack healthy lung tissue. This damage is what causes Alpha-1 patients to develop emphysema. Other lung diseases associated with Alpha-1 are COPD (chronic obstructive pulmonary disease), asthma and bronchitis. Some Alpha-1 patients also suffer from cirrhosis of the liver. Anyone with a family history of emphysema should consider genetic emphysema testing.


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