Lab Tests for Alpha-1 Antitrypsin Deficiency - An Overview

Introduction:

Protein, as we all know, is known as the bundle block of life. Proteins and compounds made from proteins act like bricks and form the basis of the human body. One such important protein compound is alpha-1 antitrypsin (AAT), which is important for the human body. The basic function of this protein is to protect the human body, especially vital organs like the lungs and liver. During infection, trauma, or damage to the body, this protein serves its protective role. Neutrophils, protective white blood cells in the body, often damage our vital organs during infection or inflammation. AAT protein prevents such damage by preventing the enzyme neutrophil elastase, which helps in the aggregation of neutrophils. Also, this protein helps protect and maintain the integrity of the air sac present in the lungs. As a result, deficiency of this enzyme leads to damage to important organs like the lungs and liver.

What Is Alpha-1 Antitrypsin (AAT) Testing?

Alpha-1 antitrypsin deficiency is an inherited condition, which means that this disease is passed on from parents to children over the generations. In general, such conditions are rare. However, AAT deficiency is one of the most common genetic disorders.

Changes in the gene structure (mutation) of SERPINA1 are responsible for this condition. Different types of dysfunctions in genetic structures lead to different types of problems, such as less production of AAT, defective production of AAT, and no production of AAT in the liver.

Based on genetic subtypes, If a person possesses two mutated copies of the gene, the condition is known as AAT deficiency. Individuals with this condition face an increased likelihood of experiencing lung disease or liver damage before reaching 45 years of age. On the other hand, if a person has one mutated copy of the gene, it is known as a carrier of AAT deficiency. This situation puts you at a somewhat elevated risk of developing lung disease, particularly if you have additional risk factors like smoking. There is also a possibility of passing the mutated gene to your offspring.

Almost, every one out of 2000 to 6000 individuals in the world suffer from this condition. Among European people, this condition is more commonly seen. Almost one out of 25 people of European descent suffer from this. Even every one out of 3,500 people in the U.S. suffers from this disorder. Despite such common occurrences, this condition remains undiagnosed for a long time.

Alpha 1 antitrypsin test is used for detecting alpha-1 antitrypsin (AAT) deficiency. AAT deficiency is a severe yet one of the most underdiagnosed conditions. Doctors use the tests for diagnosis, screening, and treatment planning purposes.

What Are the Types of AAT Tests?

There are different types of alpha 1 antitrypsin deficiency tests. These tests are;

1. AAT Blood Level Test: This blood test helps to know the serum level of AAT. A serum level of less than 11 micromoles per liter of AAT indicates alpha-1 antitrypsin deficiency (AATD).
2. The Genotype Test: This test is also done through blood sample collection. Genetic screening helps to identify genetic variations that are associated with AATD. There are two types of genetic tests: comprehensive genomic testing and gene-targeted testing. While comprehensive genetic testing is done in suspected cases of AATD where patients do not show typical features of the disease, gene-targeted testing identifies particular genes involved in this disease.
3. The Phenotype Test: The alpha1 phenotype test identifies the kind of AAT protein flowing in the blood. It looks at how the proteins move and compares those patterns to normal ones to see if there is any unusual AAT protein hanging around.

What Is It Used For?

A lot of people might wonder how to understand whether they need a test or not. Well, if you are experiencing the following conditions or symptoms, you might require an alpha 1 antitrypsin test. The symptoms are;

1. Difficulty in breathing or a wheezing sound while breathing.

2. Cough with sputum for a long period.

3. Pain in the chest.

4. Pain or discomfort in the abdomen.

Apart from this, patients may also suffer from different disease conditions like;

1. Chronic obstructive pulmonary disorder (COPD, a disease in which the airway is damaged and blocked).

2. Emphysema (a prolonged lung disease that causes damage to the air sac) at an early age or before the age of 45 years. In such cases, known factors responsible for such conditions are usually not present.

3. Asthma (breathing problem) in adulthood is not caused by any provocating factor like smoking. Such cases usually do not respond well to the treatment.

4. Panniculitis (a skin issue that leads to toughened areas with sore lumps or patches.)

5. Liver problems without any known cause.

Alpha-1 antitrypsin test results indicate the following things;

1. Tests can identify any persons suffering from AAT deficiency. It is useful for patients who are suffering from unusual liver and lung disorders.

2. Test results are useful for screening persons with a family history of AATD. As this condition is passed on to generations, screening is useful to understand the potential threat of AATD in symptomless patients.

3. Test results can help doctors to determine potential treatment plans beneficial for patients.

Taking an Alpha-1 Antitrypsin Test:

For genetic testing of AAT, swab samples are taken from saliva. However, such genetic screening can also be done through blood sample tests. Alpha-1 antitrypsin blood test is usually done for phenotype testing or for knowing the serum level of AAT.

1. Before the Test: Typically, you do not need to do much to prepare for AAT tests. It is a good idea to check with your doctor to see if there are any specific instructions you should follow beforehand. If your AAT test involves a cheek swab, you might be asked to rinse your mouth out before the test.

2. During the Test: Most AAT tests are done through a blood draw using a needle. This is a pretty standard procedure where a trained professional, like a nurse or phlebotomist, will tie an elastic band around your upper arm to help the blood flow.

3. After the Test: Once the blood draw is done, they will put a cotton swab and a bandage on the spot to help stop any bleeding. You might notice some bruising or soreness in your arm, but you can go back to your regular activities right after the test.

Are There Any Risks to the Test?

No, these tests are absolutely risk-free and safe. The process of drawing blood is performed by specialists, and it is absolutely safe.

What Do the Results Mean?

In the blood test report, the serum level is mentioned in the form of micromoles per liter. The normal range of the alpha-1 antitrypsin test is 20 to 53 micromoles per liter. If your test value is below the normal level of serum AAT, you should immediately consult the doctor. Based on your symptoms and clinical condition, the doctor will evaluate you further. Additional tests like pulmonary function tests, MRI (Magnetic Resonance Imaging), and chest CT (Computed Tomography) may be advised to understand the condition of the lungs and liver. Also, the doctor will prescribe you the AAT phenotype or genotype. These tests reflect abnormality in genetic structure and defective protein functioning.

Can I Take the Test at Home?

Yes, there are options for home tests. However, such options are available in selected regions and countries. In such cases, blood samples are collected from you, and a report is delivered. Such tests usually involve genetic screening. However, you must consult your doctor before going for such tests.

Conclusion:

Alpha-1 antitrypsin is an important protein compound in the body that protects the lungs in case of an emergency. Deficiency of this protein involves serious health problems. Though the name of the disease seems non-familiar, alpha-1 antitrypsin deficiency (AATD) is a prevalent genetic disease. Proper and timely testing for alpha-1 antitrypsin deficiency is necessary for minimizing disease complications. Also, accurate test results help in proper treatment planning.

Key Takeaways:

Alpha-1 antitrypsin deficiency (AATD) is a serious inherited disorder that affects the lungs and liver. Proper and accurate lab tests are required to identify the root cause of this disease. Do not hesitate to consult your doctor for symptoms and lab reports.