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 there is not enough AAT, these enzymes can damage the lungs, leading to lung diseases such as emphysema. 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 include:
-Shortness of breath
-Recurrent respiratory infections
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 is the primary treatment for Alpha-1 Antitrypsin Deficiency. It involves the intravenous infusion of a purified form of the Alpha-1 Antitrypsin protein. This helps to replace the missing or deficient protein in the body and can help to reduce the risk of lung and liver damage.
2. Antibiotics: Antibiotics may be prescribed to help reduce the risk of infection in people with Alpha-1 Antitrypsin Deficiency.
3. Bronchodilators: Bronchodilators are medications that help to open up the airways and make it easier to breathe. They can be used to help reduce the symptoms of Alpha-1 Antitrypsin Deficiency.
4. Pulmonary Rehabilitation: Pulmonary rehabilitation is a program of
What are the risk factors for Alpha-1 Antitrypsin Deficiency?
1. Family history: Alpha-1 Antitrypsin Deficiency is an inherited disorder, so having a family history of the condition increases the risk of developing it.
2. Age: Alpha-1 Antitrypsin Deficiency is more common in adults over the age of 40.
3. Smoking: Smoking increases the risk of developing Alpha-1 Antitrypsin Deficiency-related lung disease.
4. Exposure to environmental toxins: Exposure to certain environmental toxins, such as asbestos, can increase the risk of developing Alpha-1 Antitrypsin Deficiency-related lung disease.
5. Ethnicity: Alpha-1 Antitrypsin Deficiency is more common in people of Northern European descent.
Is there a cure/medications for Alpha-1 Antitrypsin Deficiency?
Yes, there are medications available to treat Alpha-1 Antitrypsin Deficiency. These medications are designed to replace the missing or deficient alpha-1 antitrypsin protein in the body. The most commonly used medications are Prolastin-C, Aralast NP, and Glassia. Additionally, there are other treatments available to help manage the symptoms of Alpha-1 Antitrypsin Deficiency, such as pulmonary rehabilitation, supplemental oxygen, and lifestyle modifications.