Understanding Lab Tests for Alpha-1-Antitrypsin Deficiency
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Alpha-1-Antitrypsin Deficiency (AATD) is a genetic disorder that affects the production of the alpha-1-antitrypsin enzyme, a protein that protects the lungs and liver from damage. This hereditary condition can lead to serious lung disease, including emphysema, and liver complications if left undiagnosed and untreated.
Recommended Test
Alpha-1-Antitrypsin, Quantitative
This test directly measures the amount of alpha-1-antitrypsin enzyme in the blood. Low levels of this protective enzyme indicate Alpha-1-Antitrypsin Deficiency, confirming the genetic disorder that can lead to lung and liver disease. This quantitative measurement is essential for diagnosis and helps determine the severity of the deficiency.
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Diagnosing Alpha-1-Antitrypsin Deficiency
Because AATD symptoms can mimic other respiratory conditions like asthma or COPD, accurate diagnosis requires specific blood testing to measure alpha-1-antitrypsin enzyme levels. Early detection is crucial for implementing appropriate treatment strategies and monitoring for potential complications.
Why Testing is Important
Alpha-1-Antitrypsin Deficiency is often underdiagnosed or misdiagnosed because its symptoms can be attributed to other conditions. Testing is particularly important for individuals with unexplained liver disease, early-onset emphysema, or a family history of AATD. Early diagnosis allows for proper management and may prevent or slow disease progression.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment.
