Lab Tests for Alpha-1 Antitrypsin Deficiency - An Overview

What Is an Alpha-1 Antitrypsin (AAT) Test?

This test determines the blood's level of alpha-1 antitrypsin (AAT). The liver produces the protein known as AAT. It aids in defending the lungs against harm and ailments, including emphysema and chronic obstructive pulmonary disease (COPD). Some genes in the body produce AAT. The fundamental components of parents' genetic makeup are called genes. They contain data identifying distinctive characteristics, such as height and eye color.

The gene that produces AAT is inherited twice in each person, once from the mother and once from the father. If one or both copies of this gene are altered, the body will produce less AAT or AAT that does not function as it should. AAT deficiency is a disorder resulting from two defective copies of the gene. Before 45, people with this illness are more likely to have lung disease or liver damage.

One mutant AAT gene can result in lower-than-normal levels of AAT as well as minimal or no clinical symptoms. Carriers of AAT deficiency are people with one defective gene. One could convey the faulty gene to their children even though they do not have the disease.

Why Is Alpha-1 Antitrypsin (AAT) Test Necessary?

When lung disease strikes at a young age (45 or younger) without additional risk factors like smoking, an AAT test is frequently used to detect AAT deficiency. The test could be used to identify a rare neonatal liver condition.

Why Should One Take the AAT Test?

If one is under 45, does not smoke, and has any lung disease symptoms, they may require an AAT test.

• Wheezing.

• Breathing difficulty.

• Persistent cough.

• Increased heart rate when they stand up.

• Vision issues.

• Having trouble getting better with asthma therapy.

One might also be given this test if there is a history of AAT deficiency in the family.

How Is AAT Deficiency Identified in Kids?

The liver is frequently impacted in infants who lack AAT. Hence, if the kid's healthcare professional notices any symptoms of liver damage, the youngster might require an AAT test.

They consist of the following:

• Jaundice, a prolonged case of yellowing of the skin and eyes, can occur at any time.

• Increased spleen size.

• Recurring itching.

How Is an AAT Examination Done?

A healthcare practitioner will employ a diminutive needle to collect blood from a vein located in the arm. Once the needle is inserted, a small quantity of blood is withdrawn and placed into a test tube or vial. The needle may sting somewhat when it enters or exits the body. Usually, this only needs a few minutes.

What Impact Does Alpha-1 Antitrypsin Deficiency Have on the Liver and Lungs?

AAT is a protein that develops in the liver and travels through the bloodstream to the lungs. It serves as the "off switch" for the neutrophil elastase enzyme. Neutrophil elastase is crucial for preventing lung infections but can also damage healthy lung tissue. After elastase has had a chance to aid in the battle against infection, AAT suppresses it to avoid lung damage.

One will not have enough AAT in the lungs to prevent the enzyme elastase from starting to break down the protein elastin in the lungs if a gene mutation results in low levels of AAT or wrongly produced AAT. Elastin, a structural component, enhances the flexibility and compressibility of the alveoli, the tiny air sacs within the lungs, allowing them to exhibit properties similar to that of a rubber band. The alveoli grow floppy and lose their shape without it.

One cannot adequately breathe or take in oxygen due to this. Emphysema is a disease that causes this. AAT is prevented from leaving the liver due to gene changes that alter its structure. There, it accumulates and may leave scarring. It cannot enter the bloodstream or reach the lungs since it cannot exit the liver.

How Is a Lack of Alpha-1 Antitrypsin Identified?

A doctor identifies alpha-1 antitrypsin via blood tests. It might occasionally take a while to identify alpha-1 because it exhibits signs of various diseases. If one has COPD (chronic obstructive pulmonary disease) or has symptoms related to the liver, they might be tested for alpha-1. The doctor might conduct the following tests and procedures:

• A Blood Test: A doctor takes a blood sample to assess the AAT levels and learn more about how effectively the liver is functioning. They will perform genetic testing to uncover gene variations linked to alpha-1 antitrypsin.

• Imaging: If one has low levels of AAT, lung symptoms can be shown on X-rays and CT (computed tomography) scans, which can also rule out other illnesses. These tests can indicate the site and extent of any damage present.

• Pulmonary Function Tests: These tests cannot diagnose alpha-1 but can tell the provider how well the lungs work. Frequently, these tests require exhaling into a device that assesses lung function.

• Liver Ultrasound or Elastography: If the provider suspects issues with the liver, they may get a liver ultrasound or elastography ultrasound to see if there is any scarring.

• Liver Biopsy: If one has liver damage, the provider may take a small tissue sample (biopsy) from the liver to determine how severe the injury is.

How Does One Prevent Alpha-1 Antitrypsin Deficiency?

One cannot avoid alpha-1 because it is inherited. But they may still get the illnesses it can bring on. One can take several steps to lessen the chance of organ damage even after receiving an alpha-1 diagnosis, including:

• Avoid Smoking: Avoid breathing in tobacco fumes from others.

• Avert Lung Toxins: If individuals deal with chemicals or dust, wear protective gear (like face masks).

• Resist Drinking: If one has certain types of alpha-1 that can harm the liver, one should limit or entirely avoid drinking alcohol. If the liver has been damaged, booze should not be consumed.

• Get Vaccinated: Obtain an infection-prevention vaccine. This includes liver infections like hepatitis A and B and respiratory illnesses like the flu, pneumonia, and COVID-19. Take steps to prevent getting sick with diseases that can inflame your lungs, such as washing your hands frequently.

Conclusion

Few patients with alpha-1 antitrypsin experience few or no symptoms, and others develop potentially fatal consequences. Individuals can better understand what to anticipate in a particular situation by being open and honest with the healthcare practitioner. Healthcare providers may create a strategy to manage the symptoms, lower the risk of complications, and live as healthily as possible.