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
Other signs and symptoms can include:
- unintentional weight loss
- recurring respiratory infections
- rapid heartbeat upon standing
- 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
- a barrel-shaped chest.
Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs.
About 10% of infants and 15% of adults with alpha-1 antitrypsin deficiency have liver damage. Signs of liver disease can include:
- a swollen abdomen
- swollen feet or legs
- 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.
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