Alpha-1-Antitrypsin, Quantitative

The Alpha-1-Antitrypsin, Quantitative test contains 1 test with 1 biomarker.

Brief Description: The Alpha-1-Antitrypsin Quantitative test is a specialized laboratory assay designed to measure the concentration of alpha-1-antitrypsin (AAT) in the blood. AAT is a protein primarily produced by the liver, and its main function is to inhibit the activity of enzymes that break down lung tissue, protecting the lungs from damage.

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
• Bronchiectasis
• difficult-to-treat asthma Unknown origin of liver disease
• Panniculitis with necrosis

The Alpha-1 Foundation suggests AAT testing for all people with:

• COPD
• 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:

When a Quantitative Alpha-1-Antitrypsin test is ordered, it's typically part of a broader evaluation for lung and liver health. Here are some tests commonly ordered alongside it:

1. Liver Function Test:

   • Purpose: To assess liver health.
   • Why Is It Ordered: To evaluate liver function and to check for signs of liver damage or disease, which can be associated with Alpha-1-Antitrypsin Deficiency.

2. Complete Blood Count (CBC):

   • Purpose: To evaluate overall blood health.
   • Why Is It Ordered: To check for signs of infection or other blood-related issues that can accompany lung and liver diseases.

3. Coagulation Profile (PT/INR, aPTT):

   • Purpose: To assess blood clotting function.
   • Why Is It Ordered: To evaluate for coagulation abnormalities, which can occur in liver disease.

4. Serum Protein Electrophoresis:

   • Purpose: To separate and measure various proteins in the blood.
   • Why Is It Ordered: To evaluate the protein profile, which can be altered in liver diseases and other conditions affecting protein metabolism.

These tests, when ordered alongside a Quantitative Alpha-1-Antitrypsin test, provide a comprehensive evaluation of the potential impacts of Alpha-1-Antitrypsin Deficiency on lung and liver health. They are crucial for accurately diagnosing the condition, assessing its severity, monitoring for complications, and guiding appropriate management. The specific combination of tests will depend on the individual’s symptoms, clinical presentation, and family history.

Conditions where an Alpha-1-Antitrypsin test is recommended:

The Alpha-1-Antitrypsin Quantitative test is essential for diagnosing and monitoring various conditions, including:

1. Alpha-1-Antitrypsin Deficiency: This genetic disorder can lead to reduced AAT levels, increasing the risk of lung diseases like emphysema and liver diseases due to protein accumulation in the liver.

2. Emphysema: AAT deficiency can contribute to the development of early-onset emphysema, particularly in individuals who smoke or are exposed to environmental pollutants.

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.

Most Common Questions About the Alpha-1-Antitrypsin Quantitative test:

Purpose and Indications for the Alpha-1-Antitrypsin Quantitative Test

Why is the Alpha-1-Antitrypsin Quantitative test ordered?

The Alpha-1-Antitrypsin Quantitative test is primarily ordered to diagnose Alpha-1 antitrypsin deficiency (AATD), a genetic condition that can increase the risk of lung and liver disease. The test measures the level of alpha-1 antitrypsin (AAT) protein in the blood.

Who should get an Alpha-1-Antitrypsin Quantitative test?

Individuals with symptoms of lung diseases like chronic obstructive pulmonary disease (COPD) or unexplained liver disease, especially if they are of Northern European descent or have a family history of AATD, might benefit from this test.

Clinical Significance of Test Results

What do low levels of Alpha-1-Antitrypsin indicate in the test?

Low levels of Alpha-1-Antitrypsin in the blood suggest that an individual may have AATD. This deficiency can lead to lung and liver damage since AAT is essential for protecting these organs from enzymes released during inflammation.

What does a normal result in the Alpha-1-Antitrypsin Quantitative test mean?

A normal result indicates that the individual has sufficient levels of Alpha-1-Antitrypsin in the blood, reducing the risk of diseases associated with AATD.

Interpretation and Follow-up

If the Alpha-1-Antitrypsin Quantitative test indicates deficiency, what steps should one take next?

Further genetic testing might be recommended to identify the specific genetic mutation responsible for the deficiency. Counseling about lifestyle changes, particularly avoiding smoking, and potential therapeutic options like augmentation therapy might also be discussed.

Is monitoring required after an AATD diagnosis?

Yes, individuals with AATD should undergo regular monitoring to assess lung and liver function and to ensure early detection and management of related diseases.

Conditions and Medications Influencing the Test

Do conditions like liver disease affect Alpha-1-Antitrypsin Quantitative test results?

Yes, since the liver produces the Alpha-1-Antitrypsin protein, liver diseases can influence AAT levels. Moreover, certain genetic variants of AATD can lead to abnormal AAT proteins that get trapped in the liver, causing damage.

Which medications or substances influence Alpha-1-Antitrypsin test outcomes?

Certain medications can potentially influence liver function or protein levels in the blood. It's important to inform the healthcare provider about any medications or supplements being taken.

Dietary Influence and Recommendations

Do diet and nutrition affect the Alpha-1-Antitrypsin Quantitative test results?

While diet doesn't directly affect AAT levels, chronic malnutrition or conditions that impact protein metabolism might influence test results. It's essential to maintain a balanced diet for overall health.

Are there any dietary guidelines for individuals diagnosed with AATD?

While there's no specific diet for AATD, a balanced diet supporting liver and lung health is advisable. Reducing alcohol intake, avoiding smoking, and following any specific guidelines from healthcare professionals is essential.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.