Uncover the truth about alpha 1 antitrypsin deficiency. Understand its nature, recognize the signs, and explore treatment options.
What is Alpha 1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (AAT) is a genetic disorder that affects the liver and lungs.1 It is caused by a mutation in the SERPINA1 gene, which results in the production of a defective form of the alpha-1 antitrypsin protein. This protein is responsible for protecting the lungs from damage caused by inflammation and infection. In individuals with AAT, the defective protein is unable to perform its protective function, leading to the development of lung disease and liver damage.
AAT deficiency is the most common genetic cause of liver disease in children and adults. It is also a leading cause of emphysema, a serious lung disease that can cause shortness of breath, coughing, and wheezing. AAT deficiency can also increase the risk of developing liver cancer.
Learn About Alpha 1 Antitrypsin Deficiency
AAT deficiency is an inherited condition, meaning that it is passed down from parents to children. The SERPINA1 gene is located on chromosome 14, and mutations in this gene can cause AAT deficiency. There are more than 100 different mutations that have been identified in the SERPINA1 gene, and each mutation can cause a different severity of AAT deficiency.
The most common mutation is called the Z mutation. Individuals who inherit two copies of the Z mutation (one from each parent) have severe AAT deficiency and are at high risk of developing lung disease and liver damage. Individuals who inherit one copy of the Z mutation and one copy of a normal SERPINA1 gene have mild AAT deficiency and are at lower risk of developing these complications.
AAT Deficiency Treatment Options
There is no cure for AAT deficiency but there are several treatment options available to slow lung damage.2 Some of these include:
- Alpha-1 antitrypsin replacement therapy: This therapy involves infusing a purified form of the alpha-1 antitrypsin protein into the bloodstream. Replacement therapy can help to slow the progression of lung disease and liver damage in individuals with AAT deficiency.
- Smoking cessation: Smoking is a major risk factor for lung disease in individuals with AAT deficiency. Quitting smoking can help to slow the progression of lung disease and improve overall health.
- Lung transplantation: In some cases, individuals with severe AAT deficiency may require a lung transplant. A lung transplant can help to improve breathing and quality of life in individuals with end-stage lung disease.
Learn More About Alpha-1 Antitrypsin Deficiency
Talk to your doctor for more information about AAT deficiency. You can also consider visiting the following resources:
- Alpha-1 Foundation
- National Institutes of Health
- American Lung Association