Alpha-1 Antitrypsin Deficiency
What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency is a genetic disorder that leads to low levels of a protective protein in the blood, making the lungs vulnerable to damage. It can lead to chronic lung diseases such as emphysema or COPD.
Causes of Alpha-1 Antitrypsin Deficiency:
- Genetic mutation: Passed from parents to children, leading to low levels of alpha-1 antitrypsin protein
- Liver disease: In severe cases, the protein accumulates in the liver, leading to liver damage
Common Signs and Symptoms:
- Shortness of breath
- Chronic cough, especially with mucus
- Wheezing
- Frequent lung infections
- Fatigue
Popular Treatment Methods:
- Augmentation therapy: Infusions of alpha-1 antitrypsin protein
- Bronchodilators and inhaled steroids: To manage lung symptoms
- Lung transplant: In severe cases of lung damage
- Smoking cessation: Critical for managing lung health
