What is Alpha-1?
Discover the basics of this genetic condition and learn more about the common signs and symptoms.
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic (inherited) condition passed from parents to their children through their genes. Alpha-1 may result in severe lung disease in adults and/or liver disease at any age.
There are usually two genes for each trait a person inherits; one gene comes from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother, and one came from their father.
Alpha-1 antitrypsin deficiency Signs and Symptoms
Symptoms related to the lung:
- Shortness of breath
- Wheezing
- Chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time
- Recurring chest colds
- Recurring pneumonia
- Less exercise tolerance
- Asthma that can’t be completely reversed with aggressive medical treatment
- Bronchiectasis
- Emphysema
Symptoms related to the liver:
- Unexplained liver disease or elevated liver enzymes
- Eyes and skin turning yellow (jaundice)
- Swelling of the abdomen (ascites) or legs
- Vomiting blood (from enlarged veins in the esophagus or stomach)
