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:
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:
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.
Next: How common is alpha-1 antitrypsin deficiency? »
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