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Emphysema is a progressive lung disease that damages the air sacs in the lungs, making breathing difficult. It is caused by long-term exposure to irritants like cigarette smoke or a genetic deficiency of Alpha-1-Antitrypsin, an enzyme that protects lung tissue from damage. The Alpha-1-Antitrypsin Quantitative test is the most important test for identifying genetic causes of emphysema.
Emphysema is caused by long-term exposure to airborne irritants, with cigarette smoking being the leading cause. Other contributors include secondhand smoke, air pollution, chemical fumes, and dust exposure in the workplace. A genetic condition called Alpha-1-Antitrypsin Deficiency can also cause emphysema, particularly in younger individuals or non-smokers. When you have this genetic deficiency, your lungs lack the protective enzyme needed to prevent white blood cells from damaging lung tissue during normal immune responses.
The Alpha-1-Antitrypsin Quantitative test is the most important blood test for emphysema because it identifies the genetic deficiency that causes early-onset emphysema in non-smokers or minimal smokers. This test measures the level of Alpha-1-Antitrypsin enzyme in your blood, which protects your lungs from inflammation damage. Low levels indicate a genetic deficiency that significantly increases your risk of developing emphysema, especially before age 45. While emphysema itself is diagnosed through lung function tests and imaging, the Alpha-1-Antitrypsin test is essential for understanding the underlying cause and guiding treatment decisions, including family screening recommendations.
You should get tested if you develop emphysema symptoms before age 50, have a family history of emphysema or Alpha-1-Antitrypsin Deficiency, or experience breathing problems without significant smoking history. Testing is also important if you have emphysema that affects the lower portions of your lungs, which is unusual for smoking-related emphysema. Additionally, if you have unexplained liver disease along with lung symptoms, or if multiple family members have been diagnosed with COPD or emphysema, you should get an Alpha-1-Antitrypsin test to determine if a genetic cause is present.
What this means
Your Alpha-1-Antitrypsin level is below the normal range, which may indicate a genetic deficiency. This means your lungs have less natural protection against damage, making them more vulnerable to smoking, air pollution, and other irritants. This result warrants further evaluation to determine if you have Alpha-1-Antitrypsin deficiency and may benefit from protective measures.
Recommended actions
Avoid smoking and secondhand smoke exposure completely
Minimize exposure to dust, fumes, and air pollutants at work and home
Discuss genetic phenotyping with your doctor to confirm the type of deficiency
Get vaccinated for flu and pneumonia to protect your lungs from infections
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