Alpha-1 Antitrypsin Deficiency

• What is alpha-1 antitrypsin deficiency?
• What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency?
• How common is alpha-1 antitrypsin deficiency?
• What genes are related to alpha-1 antitrypsin deficiency?
• How do people inherit alpha-1 antitrypsin deficiency?
• Where can I find information about treatment for alpha-1 antitrypsin deficiency?
• What other names do people use for alpha-1 antitrypsin deficiency?

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.

What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency?

The first signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency usually appear between ages 20 and 50. The earliest symptoms are:

• shortness of breath following mild activity,
  
  
• reduced ability to exercise, and
  
  
• wheezing.

Other signs and symptoms can include:

• unintentional weight loss,
  
  
• recurring respiratory infections,
  
  
• fatigue,
  
  
• rapid heartbeat upon standing, and
  
  
• vision abnormalities.

Advanced lung disease leads to emphysema, in which small air sacs in the lungs (alveoli) are damaged. Characteristic features of emphysema include:

• difficulty breathing,
  
  
• a hacking cough, and
  
  
• a barrel-shaped chest.

Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs.

About 10 percent of infants and 15 percent of adults with alpha-1 antitrypsin deficiency have liver damage. Signs of liver disease can include:

• a swollen abdomen,
  
  
• swollen feet or legs, and
  
  
• yellowing of the skin and whites of the eyes (jaundice).

In rare cases, alpha-1 antitrypsin deficiency also causes a skin condition known as panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.