The Alpha-1-Antitrypsin, Quantitative test contains 1 test with 1 biomarker.
Description: The Alpha-1-Antitrypsin Quantitative test measures levels of the alpha-1-antitrypsin protein in the blood.
Also Known As: Alpha1-antitrypsin Test, A1AT Test, AAT Test, Alpha 1 Antitrypsin Serum Test
Collection Method: Blood Draw
Specimen Type: Serum
Test Preparation: No preparation required
When is an Alpha-1-Antitrypsin test ordered?
When Alpha-1 antitrypsin tests may be prescribed:
- Jaundice that lasts more than a week or two in a baby, an enlarged spleen, fluid buildup in the belly, persistent itching, and other symptoms of liver damage are present.
- A person with COPD, elevated, sensitive skin lesions that develop into ulcers, granulomatosis with polyangiitis, or unexplained airway widening may be of any age.
- Wheezing, a persistent cough, bronchitis, shortness of breath after exercise, and/or other emphysema symptoms often appear in people under the age of 40. This is particularly true when the person is not a smoker, has not been exposed to known lung irritants, and when the lung damage appears to be low in the lungs.
- Someone has an alpha-1 antitrypsin deficiency that runs in their family.
- A person wants to know how likely it is that their child would experience the same problems as their impacted family member.
The American Thoracic Society advised AAT testing in their 2003 guidelines when people were diagnosed with diseases like:
- Young age for onset of emphysema and/or absence of clear risk factors for the condition, such as smoking
- difficult-to-treat asthma Unknown origin of liver disease
- Panniculitis with necrosis
The Alpha-1 Foundation suggests AAT testing for all people with:
- illness of the liver with no known cause
- Panniculitis with necrosis
- Polyangiitis and granulomatosis
- mysterious bronchiectasis
The Alpha-1 Foundation also advises providing genetic counseling and AAT testing to people who have immediate or extended family members who have an aberrant AAT gene.
What does an Alpha-1-Antitrypsin blood test check for?
A blood protein called alpha-1 antitrypsin shields the lungs from harm from enzymes that have been activated. To help with the diagnosis of alpha-1 antitrypsin deficiency, laboratory tests detect the amount of AAT in blood or find aberrant forms of AAT that a person has inherited.
The most significant enzyme that AAT aids in inactivating is elastase. Elastase is a white blood cell termed a neutrophil that is created as part of the body's normal response to inflammation and injury. Elastase disassembles proteins so that the body can eliminate and recycle them. Elastase will also start to degrade and harm lung tissue if its activity is not controlled by AAT.
The gene that codes for AAT is inherited twice every person. The protease inhibitor gene is what it is known as. Because of the co-dominance of this gene, the body produces half of its AAT from each copy of the SERPINA1 gene. Less AAT and/or AAT with diminished function are produced if there is a change or mutation in one or both of the gene copies.
Alpha-1 antitrypsin deficiency is a condition that affects a person whose AAT production falls below 30% of normal. Emphysema, a progressive lung illness, is a serious danger for people with this disorder to experience in their early adult years. The lung damage likely to happen sooner and be more severe if they smoke or are exposed to occupational dust or fumes.
AAT that is dysfunctional of a particular sort builds up in the cells of the liver, where it is created. As AAT accumulates in these cells, it starts to produce aberrant protein chains, which then start to kill the cells and harm the liver. AAT-deficient neonates are jaundiced and suffer liver damage in about 10% of cases. These infants may need a liver transplant to survive in serious circumstances. The most frequent genetic cause of liver disease in children is presently AAT deficiency.
Adults with an AAT deficiency are more likely to develop liver cancer, cirrhosis, and chronic liver disease. Adults with AAT insufficiency rarely experience symptoms or indicators of liver damage, nevertheless. The hereditary gene mutation determines the amount and function of the AAT. The SERPINA1 gene contains more than 120 distinct alleles, however only a few of them are widespread. 90% of Americans have two copies of the typical, "wild type," M gene. S and Z are the aberrant genes that are most frequently found.
Lab tests often ordered with an Alpha-1-Antitrypsin test:
- Protein Electrophoresis
- Total Protein
- Hepatic Function Panel
- Blood Gases
Conditions where an Alpha-1-Antitrypsin test is recommended:
- Lung Disease
- Liver Disease
How does my health care provider use an Alpha-1-Antitrypsin test?
When a patient has early onset emphysema or chronic obstructive pulmonary disease but no clear risk factors, such as smoking or exposure to lung irritants like dust or fumes, alpha-1 antitrypsin testing is utilized to help diagnose alpha-1 antitrypsin deficiency as the cause. It may also be applied to asthmatics who continue to have breathing difficulties despite receiving treatment.
Other symptoms of unexplained liver injury, such as prolonged jaundice, are also diagnosed with the use of testing. This can be done on anyone of any age, but is typically done on infants and young children.
A person with a family history of alpha-1 antitrypsin deficiency may also undergo testing to identify whether they have one or two copies of the SERPINA1 gene.
There are typically three different AAT exam kinds. One or more of these could be applied to assess a person:
- The protein alpha-1 antitrypsin in blood is measured by alpha-1 antitrypsin.
- Testing for the phenotype of alpha-1 antitrypsin assesses the quantity and kind of AAT being produced and contrasts it with typical patterns.
- To determine if the typical wild type M allele or variant alleles are present in the SERPINA1 gene, alpha-1 antitrypsin genotyping testing can be utilized. This test won't find every variant, but it will find the most prevalent ones as well as those that might be frequent in a specific region or family. Other family members may be examined to determine their own risk of acquiring emphysema and/or liver dysfunction as well as the possibility that their children may inherit the condition after the sick person's SERPINA1 gene alleles have been determined.
Although gene sequencing for AAT is uncommon, it might be required to find uncommon alleles and make a precise diagnosis.
What do my Alpha-1-Antitrypsin test results mean?
Alpha-1 antitrypsin deficiency may be present in a person whose blood has a low amount of AAT, according to the test results. The risk of developing emphysema and other conditions linked to AAT insufficiency increases with decreasing AAT levels.
We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.