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About Alpha-1-antitrypsin deficiency

What is Alpha-1-antitrypsin deficiency?

Alpha-1-antitrypsin deficiency (AATD) is an inherited disorder that can cause lung and liver disease. It is caused by a deficiency of the protein alpha-1-antitrypsin (AAT), which is produced in the liver. AAT helps protect the lungs from damage caused by certain enzymes. When AAT levels are low, these enzymes can damage the lungs, leading to emphysema and other lung diseases. AATD can also cause liver disease, including cirrhosis.

What are the symptoms of Alpha-1-antitrypsin deficiency?

The most common symptoms of Alpha-1-antitrypsin deficiency are shortness of breath, wheezing, and chronic cough. Other symptoms may include fatigue, chest pain, recurrent bronchitis or pneumonia, and difficulty exercising. In some cases, the deficiency can also lead to liver disease, including cirrhosis and liver cancer.

What are the causes of Alpha-1-antitrypsin deficiency?

Alpha-1-antitrypsin deficiency is caused by a genetic mutation in the SERPINA1 gene, which is responsible for producing the alpha-1-antitrypsin protein. This mutation results in the body not producing enough of the protein, which can lead to a variety of health problems.

What are the treatments for Alpha-1-antitrypsin deficiency?

1. Augmentation therapy: This involves regular infusions of a purified form of alpha-1-antitrypsin (AAT) to replace the missing or deficient enzyme.

2. Lung transplant: This is an option for people with severe lung damage due to alpha-1-antitrypsin deficiency.

3. Bronchodilators: These medications help to open up the airways and make breathing easier.

4. Corticosteroids: These medications can help reduce inflammation in the lungs.

5. Antibiotics: These medications can help to treat any infections that may be present.

6. Oxygen therapy: This can help to increase the amount of oxygen in the blood.

7. Pulmonary rehabilitation: This involves a program of exercise and education to help improve breathing and quality

What are the risk factors for Alpha-1-antitrypsin deficiency?

1. Family history of Alpha-1-antitrypsin deficiency
2. Smoking
3. Exposure to environmental pollutants
4. Age (more common in adults)
5. Gender (more common in males)
6. Certain ethnic backgrounds (more common in people of Northern European descent)

Is there a cure/medications for Alpha-1-antitrypsin deficiency?

Yes, there are treatments available for Alpha-1-antitrypsin deficiency. These include medications to reduce inflammation and improve lung function, as well as enzyme replacement therapy (ERT) to replace the missing Alpha-1-antitrypsin protein. Additionally, lifestyle modifications such as quitting smoking, avoiding air pollution, and exercising regularly can help improve symptoms.