Alpha One Anti Trypsin Deficiency
What is Alpha-1 antitrypsin (AAT) deficiency?
Alpha-1 antitrypsin (AAT) is a protein made in the liver which protects the liver and lungs from damage. An abnormally low level is referred to as AAT deficiency. This can lead to liver cirrhosis and chronic obstructive pulmonary disease (COPD).
Causes of Alpha-1 antitrypsin (AAT) deficiency
AAT deficiency occurs due to a genetic defect. The deficiency is inherited and is passed from the parents to their children.
Symptoms of Alpha-1 antitrypsin (AAT) deficiency
Symptoms include:
- Liver failure
- Weight loss
- Wheezing
- Shortness of breath
- Wheezing
Diagnosis of Alpha-1 antitrypsin (AAT) deficiency
Your doctor diagnoses AAT deficiency by performing a physical examination. Certain tests may include:
- Arterial blood gas analysis
- Chest x-ray
- Genetic testing
- Lung function test
- AAT blood test
- CT scan of the chest
Treatment for Alpha-1 antitrypsin (AAT) deficiency
Treatment involves replacing the missing AAT protein and addressing associated conditions which can include liver cirrhosis and COPD. The replacement procedure is known as an augmentation therapy. This involves introducing AAT protein through a vein each week or every 4 weeks. Augmentation therapy helps in preventing more lung damage in people without the end-stage disease. It is highly recommended that you stop smoking if you are a smoker.
Risks and Complications of Alpha-1 antitrypsin (AAT) deficiency
As with any disease, AAT deficiency is associated with certain risks and complications which include:
- Failure of the liver or liver cancer
- COPD
- Bronchiectasis (damage to the lung’s airways which can lead to inflammation and infection)