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Also Known as:     A1AT, AAT, alpha-1-antiprotease deficiency, α1-antitrypsin

What is an alpha-1 antitrypsin (AAT) test?

This test determines how much alpha-1 antitrypsin (AAT) is present in the blood. AAT is a protein produced by the liver. It assists in protecting lung from damage and diseases such as emphysema and chronic obstructive pulmonary disease (COPD).

Several enzymes, the most important of which is elastase, are inactivated by AAT. Elastase is an enzyme generated by neutrophils, a kind of white blood cell that plays a role in the body's normal reaction to injury and inflammation. Elastase is a protein-degrading enzyme that allows the body to remove and recycle proteins. Elastase will begin to break down and destroy lung tissue if its action is not regulated by AAT.

Certain genes in your body produce AAT. Genes are the basic components of heredity that are passed down from one generation to the next. They contain data that determines your individual characteristics, such as height and eye colour. Each person receives two copies of the gene, one from their father and the other from their mother. If one or both copies of this gene have a mutation (change), your body will produce less AAT or AAT that doesn't operate as effectively as it should.

Alpha-1 antitrypsin deficiency is a condition that occurs when AAT production falls below 30% of normal. In early adulthood, people with this illness are at a high risk of acquiring emphysema, a degenerative lung disease. Lung damage occurs sooner and is more severe if they smoke or are exposed to occupational dust or fumes.

Chronic liver disease, cirrhosis, and liver cancer (hepatocellular carcinoma) are all more likely in individuals with AAT deficiency. Adults with AAT deficiency, on the other hand, rarely show signs or symptoms of liver damage. The amount and function of the AAT are determined by the inherited gene mutation.

What is the test used for?

When a person does not have clear risk factors such as smoking or exposure to lung irritants like dust and fumes, alpha-1 antitrypsin (AAT) testing is used to help diagnose alpha-1 antitrypsin deficiency as the cause of early onset emphysema or chronic obstructive pulmonary disease (COPD). It can also be performed if someone has asthma that continues to impede their breathing despite treatment.Testing can also be done to figure out what's causing persistent jaundice and other symptoms of undiagnosed liver damage. This is most commonly done in infants and little children, but it can be done on anyone of any age.

Why and when do you need an ACTH test?

Alpha-1 antitrypsin testing may be requested in the following situations:

Neonatal Jaundice that lasts more than a week or two, an enlarged spleen, fluid collection in the abdomen (ascites), persistent itching (pruritus), and in  other indications of liver injury in infants.

Someone has COPD, necrotizing panniculitis , granulomatosis with polyangiitis (a vascular disease), or unexplained airway enlargement  (bronchiectasis).

Wheezing, a chronic cough or bronchitis, shortness of breath after exertion, or other symptoms of emphysema developed in a person younger than 40 years of age  if the person isn't a smoker, hasn't been exposed to possible lung irritants and when lung damage looks to be low in the lungs.

Someone has an alpha-1 antitrypsin deficiency in their close family.

Someone wants to discover the likelihood of having an affected child.

AAT testing is recommended by the American Thoracic Society when people are diagnosed with diseases such as:

  • Emphysema at a young age (less than 45 years old) with no evident risk factors, such as smoking
  • Bronchiectasis of unknown cause
  • A complicated case of asthma
  • Unexplained Liver Disease
  • Necrotizing panniculitis
  • COPD ( Chronic Obstructive Pulmonary Disease)
  • Polyangiitis with granulomatosis

What kind of sample is required for the test?

A small needle will be used by a healthcare provider to obtain a blood sample from a vein in your arm.  A small amount of blood will be collected into a test tube or vial once the needle is inserted. When the needle goes in or out, it may sting a little. It normally takes less than five minutes to complete this process.

Do you need to prepare for the test?

An AAT test does not require any specific preparation.

Are there any risks to this test?

Having a blood test carries relatively little risk. You may experience little pain or bruising where the needle was inserted, but most symptoms disappear quickly.

What do the test results mean?

If your AAT levels are lower than usual, it's likely that you have one or two mutant AAT genes. The lower the number, the more likely you have two mutant genes as well as AAT deficiency.

You can make certain lifestyle modifications to lower your risk of other related diseases if you are diagnosed with AAT deficiency. These are some of them:

Quit smoking if you're a smoker. In persons with AAT deficiency, smoking is the major cause of life-threatening lung disoders

Maintaining a healthy diet

Exercise on a regular basis

Consulting your Healthcare Provider regularly

Taking medications as directed by your healthcare provider

Related tests: Protein Electrophoresis, Immunofixation Electrophoresis, Total Protein, Albumin-Globulin (A/G) Ratio ,Blood Gases, Liver Panel



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