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