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alpha-1 antitrypsin deficiency
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What Is Alpha 1 Antitrypsin Test?

An alpha-1 antitrypsin test is a type of test that assesses the amount of alpha-1 antitrypsin (AAT) in the bloodstream. AAT is a protein that is produced in the liver. This protein safeguards your lungs from damage and ailments, including emphysema and chronic obstructive pulmonary disease (COPD).

alpha-1 antitrypsin deficiency

Certain genes in your body produce AAT. A person receives two copies of the gene that makes AAT, one from his father and another one from his mother. In case of any mutation in one or both copies of this gene, your body will produce less AAT or AAT that doesn’t function properly. If you carry two mutated copies of the gene, then you are suffering from a condition called AAT deficiency. But if you have one mutated AAT gene, you may produce a lower amount of AAT, but mild or no symptoms of the disease. These people are carriers of AAT deficiency. An AAT test determines whether you have the genetic mutation that makes you more prone to getting the risk for disease.

The cost of the alpha antitrypsin is Rs.1600 to Rs.1900, depending on your location and place.

Please check the price of the allergy test in Delhi/NCR, your nearby centers and other details.

Test Summary 

Also known as A1AT, AAT, Alpha-1-Antiprotease Deficiency, α1-Antitrypsin
Test Type Blood
Alpha-1 antitrypsin includes To check whether you have a lung infection or not
Preparation You may not need any special preparations
Reporting Within 24 hrs
Test price The cost of the alpha antitrypsin is Rs.1600 to Rs.1900, depending on your location and place.
Also included in Health Insurance Plans
Related tests MRI, ECG, Echocardiogram, chest X-Ray, liver biopsy

 

Why do you need this test?

An AAT test is recommended to diagnose AAT deficiency in people who are suffering from lung disease at an early age (45 years or younger) but don’t have other risk factors such as smoking. This test is also beneficial in diagnosing a rare form of liver disease in infants.

Your doctor will refer to this test if you are below 45 years and have symptoms of lung disease, including

  • Wheezing
  • Shortness of breath
  • Chronic cough
  • Abnormal heartbeat especially you stand up
  • Vision problems
  • Asthma that doesn’t get cured with a treatment

 

If you have a family history of AAT deficiency, then your doctor may suggest this test. Most people get this between their 20s and 40s.

In babies, AAT deficiency may affect the liver. So your baby may require an AAT test if his or her healthcare professional finds certain signs of liver disease. These include:

  • Jaundice is a healthcare condition that makes your skin and eyes yellow for more than a week or two
  • An enlarged spleen
  • Difficulties in weight gain
  • Frequent itching
  • Nose or umbilical cord bleeding

 

The AAT Test Preparation

This test doesn’t demand any kind of special preparation from the participants.

The Test Procedure

  • A deft nurse or technician will collect your blood sample by inserting a small needle from a vein in your arm.
  • Once the needle is injected, a small amount of blood will be drawn into a test tube or vial.
  • You may feel a sharp pain when the needle goes in or out.
  • Your blood sample will be sent to the lab for further testing
  • The entire process takes less than five minutes

 

The Test Results

The normal level of AAT is between 100 and 300 mg/dL. Lesser than 80 mg/dL suggests that you have a significant risk of developing lung disease.

  • If your results come up with a lower than normal amount of AAT, then you may have one or two mutated AAT genes.
  • But if the level is too low, then you may have two mutated genes and AAT deficiency.

FAQs

What are the Risks of this Test?

This blood test involves minimal risk. You may experience mild pain or bruise at the puncture spot where the needle was put in. But the symptoms will disappear within a day or two.  

What are the Causes of AAT Deficiency?

Alpha-1 antitrypsin deficiency is an inherited genetic disorder. You got this disorder from the faulty genes of your both parents. Some people with these genes may have no symptoms or they might have mild symptoms.

What are the Treatments for AAT Deficiency?

There is no permanent cure for AAT deficiency; you can elevate the amount of AAT protein in your blood. This elevated amount will protect your lungs from more damage. Doctors can call this augmentation therapy. If you are having emphysema, then also you may get this kind of treatment.

Augmentation therapy is also known as replacement therapy. The treatment will offer you a new supply chain of AAT protein that comes from the blood of healthy human donors. This is a weekly treatment where the replacement of alpha-1 gets into your body through an IV. This treatment can be done at the doctor’s office or you can get it done at home with the help of a technician.

The objective of this augmentation therapy is to avert or stop the damage to your lungs. This will only prevent you from getting worse but it doesn’t heal any damage that you already have. Your treatment will be for the rest of your life.

Your doctor will give you a medication that you breathe into your lungs with an inhaler. This medication is called a bronchodilator. But if your breathing problem minimizes the level of oxygen in your blood, you might need a mask or nosepiece.

Is Alpha-1 antitrypsin a terminal disease?

This rare disorder may lead to some life-threatening diseases like lung or liver problems including emphysema and cirrhosis.

Is Alpha-1 deficiency related to inflammation?

Alpha-1 antitrypsin deficiency is related to several inflammatory conditions like bronchiectasis, vasculitis, and panniculitis. 

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