What is Alpha-1 antitrypsin (AAT)?
AAT is a protein found in blood which protects lungs from damage (like emphysema & COPD) caused by activated enzymes. It is made by two copies of protease inhibitor (SERPINA1) gene. If there arises a mutation or change in one or both gene copies, then AAT is produced less or with reduced function. Its function is to inactivate elastase & several other enzymes. Elastase would break down proteins so that they can be removed & recycled by the body, but if its action is not regulated by AAT, it will start to breakdown & cause damage to lung tissues.
What is Alpha-1 antitrypsin level lab test?
This test will, therefore, measure the AAT levels in blood & diagnose a genetic disorder called alpha-1 antitrypsin deficiency. The disorder is linked with having abnormally low levels /lack of alpha-1 antitrypsin (AAT) protein in blood.
Why is Alpha-1 antitrypsin level lab test done?
The AAT levels measured in this test is done for following reasons:
- Helps diagnose AAT deficiency which is cause of early onset of emphysema (lung condition) or COPD (chronic obstructive pulmonary disease).
- It is used when person doesn’t have other obvious risk factors of lung diseases like smoking or exposure to lung irritants
- Used in asthma where even after treatment, breathing obstruction takes place
- Diagnosis of cause of persistent jaundice & other signs that indicate towards unexplained liver injury
- Determining SERPINA1 gene copies (either one or both present) in people with family history of alpha-1 antitrypsin deficiency
- What is considered as normal AAT level?
The serum AAT levels are given in milligrams per decimeter (mg/dL) and its reference range is approximately 100 to 300 mg/dL. Levels less than 80 mg/dL may suggest significant risk of lung disease
- What is the meaning of high alpha-1 antitrypsin?
Those people who make large amounts of abnormal AAT protein i.e. nearly 85% gets stuck in liver. If liver doesn’t break down this abnormal protein, the liver gets damaged & will be scarred gradually.
- How is AAT deficiency test done?
A blood test will help measure concentration of AAT in blood. If levels are low, they show AAT deficeincy. When AAT levels come low than normal, then blood sample is tested for looking at abnormal types of AAT proteins present.
- How much will be the life expectancy of someone with Alpha-1?
Those who have Alpha-1 associated lung disease & they continue to smoke, then they may live for about 60 years.
- Can alpha-1 be considered as autoimmune disease?
AAT deficiency is an under-recognized hereditary disorder that is linked with premature onset of chronic obstructive lung disease, & liver cirrhosis in adults and children.
You get tested as it helps:
- In diagnosing the cause of early onset of emphysema & liver dysfunction
- To state the risk of emphysema & liver disease caused by AAT deficiency
- Determine AAT deficiency likelihood in children who might inherit it