Alpha-1 antitrypsin blood test
Explanation
Alpha-1 antitrypsin, often shortened to AAT, is a protein made mainly by the liver. It helps protect the lungs by blocking certain enzymes. These are proteins that can break down lung tissue. A blood test measures how much AAT is present.
Does a low level prove an inherited deficiency?
A low result can prompt further investigation, but the concentration alone does not identify the inherited change. A phenotype test examines the type of AAT protein. A genotype test looks for changes in the gene that provides instructions for making it.
These tests answer different questions. The clinician decides which are useful based on the blood level, symptoms and family history.
Can a normal level settle the question?
Inflammation can raise AAT and hide a deficiency. Some inherited variants also affect how the protein works without greatly lowering the amount. A concentration result therefore needs clinical context.
What if the sample was stool?
AAT can also be measured in stool to investigate protein loss through the intestine. That is a different use of the test. Check the sample type on the report before interpreting the result.
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