- Also Known as A1AT, AAT, alpha-1-antiprotease deficiency, a1-antitrypsin
What is an alpha-1 antitrypsin (AAT) test?
This test determines how much alpha-1 antitrypsin (AAT) is present in the blood. AAT is a protein produced by the liver. It assists in protecting the lung from damage and diseases such as emphysema and chronic obstructive pulmonary disease (COPD).
Several enzymes, the most crucial elastase, are inactivated by AAT. Elastase is an enzyme generated by neutrophils, a kind of white blood cell that plays a role in the body's normal reaction to injury and inflammation. Elastase is a protein-degrading enzyme that allows the body to remove and recycle proteins. Elastase will break down and destroy lung tissue if AAT does not regulate its action.
Specific genes in your body produce AAT. Genes are the essential components of heredity passed down from one generation to the next. They contain data that determines your characteristics, such as height and eye color.
Each person receives two copies of the gene, one from their father and their mother. If one or both copies of this gene have a mutation (change), your body will produce less AAT or AAT that doesn't operate as effectively as it should.
Alpha-1 antitrypsin deficiency is a condition that occurs when AAT production falls below 30% of normal. In early adulthood, people with this illness are at a high risk of acquiring emphysema, a degenerative lung disease. Lung damage occurs sooner and is more severe if they smoke or are exposed to occupational dust or fumes.
Chronic liver disease, cirrhosis, and liver cancer (hepatocellular carcinoma) are more likely in individuals with AAT deficiency. On the other hand, adults with AAT deficiency rarely show signs or symptoms of liver damage. The inherited gene mutation determines the amount and function of the AAT.
What is the test used for?
When a person does not have apparent risk factors such as smoking or exposure to lung irritants like dust and fumes, alpha-1 antitrypsin (AAT) testing is used to help diagnose alpha-1 antitrypsin deficiency as the cause of early-onset emphysema or chronic obstructive pulmonary disease (COPD). It can also be performed if someone has asthma that impedes their breathing despite treatment. Testing can also be done to determine what's causing persistent jaundice and other symptoms of undiagnosed liver damage. This is most commonly done in infants and little children, but it can be done on anyone of any age.
Why and when do you need an ACTH test?
Alpha-1 antitrypsin testing may be requested in the following situations:
- Neonatal Jaundice that lasts more than a week or two, an enlarged spleen, fluid collection in the abdomen (ascites), persistent itching (pruritus), and other indications of liver injury in infants.
- Someone has COPD, necrotizing panniculitis, granulomatosis with polyangiitis (a vascular disease), or unexplained airway enlargement (bronchiectasis).
- Wheezing, a chronic cough or bronchitis, shortness of breath after exertion, or other symptoms of emphysema developed in a person younger than 40 years of age if the person isn't a smoker, hasn't been exposed to possible lung irritants, and when lung damage looks to be low in the lungs.
- Someone has an alpha-1 antitrypsin deficiency in their close family.
- Someone wants to discover the likelihood of having an affected child.
AAT testing is recommended by the American Thoracic Society when people are diagnosed with diseases such as:
- Emphysema at a young age (less than 45 years old) with no evident risk factors, such as smoking
- Bronchiectasis of unknown cause
- A complicated case of asthma
- Unexplained Liver Disease
- Necrotizing panniculitis
- COPD ( Chronic Obstructive Pulmonary Disease)
- Polyangiitis with granulomatosis
What kind of sample is required for the test?
A healthcare provider will use a small needle to obtain a blood sample from a vein in your arm. A small amount of blood will be collected into a test tube or vial once the needle is inserted. When the needle goes in or out, it may sting a little. It usually takes less than five minutes to complete this process.
Do you need to prepare for the test?
An AAT test does not require any specific preparation.
Are there any risks to this test?
Having a blood test carries relatively little risk. You may experience minor pain or bruising where the needle was inserted, but most symptoms disappear quickly.
What do the test results mean?
If your AAT levels are lower than usual, you likely have one or two mutant AAT genes. The lower the number, the more likely you have two mutant genes and AAT deficiency.
You can make certain lifestyle modifications to lower your risk of other related diseases if diagnosed with AAT deficiency. These are some of them:
- Quit smoking if you're a smoker. In persons with AAT deficiency, smoking is the primary cause of life-threatening lung disorders
- Maintaining a healthy diet
- Exercise regularly
- Consulting your Healthcare Provider regularly
- Taking medications as directed by your healthcare provider