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.

 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.