Alpha-1 antitrypsin (AAT) is a protein produced in the liver that protects tissues, particularly the lungs, from damage caused by enzymes like neutrophil elastase. This enzyme, which is released during inflammation, can break down elastic fibers in the lungs if not adequately controlled by AAT.

The Alpha-1 Antitrypsin test measures AAT levels in the blood to evaluate conditions related to lung and liver health.

Why is Alpha-1 Antitrypsin Important?

1. Protecting Lung Tissue:

• AAT inhibits neutrophil elastase, preventing excessive lung tissue breakdown.
• Deficiency in AAT increases the risk of emphysema or chronic obstructive pulmonary disease (COPD).

1. Liver Function:

• Abnormal AAT production can lead to accumulation of dysfunctional AAT protein in the liver, causing liver damage or cirrhosis.

Why is the Test Done?

The test is ordered to:

1. Diagnose Alpha-1 Antitrypsin Deficiency (AATD):

• A genetic disorder where the body produces insufficient or dysfunctional AAT protein.

1. Evaluate Lung Symptoms:

• Chronic cough, wheezing, or shortness of breath not explained by smoking or other environmental factors.

1. Assess Liver Problems:

• Jaundice, unexplained liver enlargement, or abnormal liver function tests in infants, children, or adults.

1. Family Screening:

• To determine if family members of a person with AATD also have the condition or carry the gene mutation.

Symptoms Leading to Testing

1. Lung-related Symptoms

• Early-onset emphysema or COPD, especially in non-smokers or young individuals (<45 years).
• Persistent or worsening shortness of breath.
• Chronic bronchitis or frequent respiratory infections.

1. Liver-related Symptoms

• Jaundice (yellowing of the skin or eyes).
• Unexplained fatigue or weakness.
• Abdominal swelling or discomfort.
• Cirrhosis or elevated liver enzymes on blood tests.

1. Skin Involvement

• Panniculitis: Inflammation of the fatty layer under the skin, leading to painful lumps or sores.

Test Results and Interpretation

• Normal AAT Levels: Suggest adequate protection against neutrophil elastase.
• Low AAT Levels: Indicate AAT deficiency. Genetic testing may be recommended to confirm.

Common Genetic Variants:

• MM: Normal levels.
• MZ: Carrier state, slightly reduced levels, usually asymptomatic.
• ZZ: Severe deficiency, associated with high risk of lung and liver disease.

Complications of AAT Deficiency

1. Lung Disease:

• Increased susceptibility to emphysema, even in non-smokers.
• Faster progression of COPD in smokers with AATD.

1. Liver Disease:

• Cirrhosis and liver failure in both children and adults.
• Risk of hepatocellular carcinoma (liver cancer).

Management of AAT Deficiency

1. For Lung Health:

• Avoid smoking and environmental pollutants.
• Augmentation therapy: Infusion of AAT protein in severe cases.
• Regular pulmonary rehabilitation and use of bronchodilators or inhaled corticosteroids.

1. For Liver Health:

• Monitoring liver function with regular blood tests.
• Avoid alcohol and hepatotoxic substances.
• Consider liver transplantation for advanced liver disease.

Early detection and lifestyle adjustments are key to improving outcomes for people with AATD.