Alpha-1 antitrypsin deficiency is a genetic disorder that causes low or no levels of the protein, alpha-1 antitrypsin (AAT). The lack of this protein may cause liver and lung disease over time. Alpha-1 antitrypsin deficiency is often undetected for many years, and although treatable, the disease is not curable.
Signs and Symptoms
Shortness of breath at rest or with exercise
Wheezing
Coughing
Repeated lung infections
Sputum production
History of suspected allergies and/or asthma
Testing
Alpha-1 antitrypsin deficiency can be diagnosed through blood testing. A simple, quick test can be done with just a prick of your finger. There are three types of Alpha-1 antitrypsin deficiency tests that can be used to detect this condition:
Alpha-1 genotyping examines your genes and determines your genotype
Alpha-1 antitrypsin PI type or phenotype test determines the type of AAT protein
Alpha-1 antitrypsin level test determines the amount of AAT in your blood
Source: Alpha-1 Foundation
