Biochemistry Test

Test : Alpha1-proteinase inhibitor


Indications : The Alpha1-Proteinase Inhibitor (A1PI) test is a laboratory test that is carried out to measure the amount of the Alpha-1 Anti-Trypsin (A1AT) enzyme in your blood (1^✔ ✔Trusted Source
Alpha-1 Antitrypsin Testing

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This test is useful in diagnosing A1AT deficiency, which causes a rare form of emphysema in adults and a rare form of cirrhosis in both children and adults. A1AT deficiency causes the liver and the lung to be exposed to the damaging effects of the proteases. This condition is hereditary and is likely to pass through families (2^✔ ✔Trusted Source
Alpha-1 Antitrypsin Deficiency

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Most of us have two copies of the A1AT gene. However, some individuals with suboptimal levels of the enzyme have one normal and one abnormal gene, while those with the severe form of the disease have two abnormal copies of the gene (3^✔ ✔Trusted Source
About Alpha-1 Antitrypsin Deficiency

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The blood sample for the test is usually acquired by puncturing a vein in the forearm. This procedure involves very little risk.

You may need the test if you are having the following symptoms (1^✔ ✔Trusted Source
Alpha-1 Antitrypsin Testing

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• Wheezing
• Shortness of breath
• Chronic cough
• Faster heartbeat
• Vision problems
• Asthma

Physiology : Alpha-1 proteinase, also known as Alpha-1 Anti-Trypsin (A1AT), is an enzyme that functions as an inhibitor of a variety of proteins-cleaving enzymes (proteases) such as elastase, trypsin, and chymotrypsin. In other words, this A1AT protects the liver and the lungs from the damaging effects of certain harmful enzymes (4^✔ ✔Trusted Source
Alpha-1 Antitrypsin Mutation

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A1AT deficiency is an inherited disorder that impacts both adults and children. In normal individuals, the liver produces an adequate quantity of AAT and releases it into the blood stream, but for those with faulty genes, the enzyme is produced in inadequate amounts, or is not produced at all, causing lung disease (emphysema) in adults and liver disease in both adults and children (5^✔ ✔Trusted Source
Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease

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Normal Range : The normal ranges of the Alpha1-Proteinase Inhibitor test is below (6^✔ ✔Trusted Source
Alpha-1 Antitrypsin Deficiency

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• Normal plasma concentration of AAT ranges from 80 mg/dL to 220 mg/dL
• By using nephelometry, the ranges from 20 to 48 micromol/L
• By using radial immunodiffusion, the ranges from 150 mg/dL to 350 mg/dL

Interpretation : Normal value of A1AT ranges from 150-250mg/100ml. This value can vary between different laboratories.

Lower than normal levels could indicate (7^✔ ✔Trusted Source
Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease

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• Cirrhosis
• Emphysema
• Obstructive jaundice
• Portal hypertension
• Tumors in the liver
• Heart, liver or respiratory failure

More Information

Children with A1AT deficiency are likely to develop liver problems that last all through their lives. The condition cannot be cured, but it can be treated.

One method of treatment is gene therapy, which involves replacing the missing gene. This treatment is not popular world-wide and is still in its nascent stage. The other treatment option is to undergo a lung transplant (7^✔ ✔Trusted Source
Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease

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If you are diagnosed with AAT deficiency, the below steps will be used to reduce the risk of disease (1^✔ ✔Trusted Source
Alpha-1 Antitrypsin Testing

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• Not smoking
• Healthy diet
• Regular exercise
• Consult a health care provider regularly
• Medications as per prescription

References:

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