Alpha-1, or AAT deficiency, is a common hereditary disorder characterized by low levels of alpha-1 antitrypsin, a protein in the blood. This protein protects the tissue of the body from being digested by enzymes released from inflammatory cells. A deficiency of this specific protein can result in life-threatening liver disease in children and adults, as well as lung disease in adults.

Alpha-1 is widely under diagnosed. Of the 100,000 individuals in the United States estimated to have it, only about 10 percent have been identified. Many times, the symptoms are misdiagnosed as chronic obstructive pulmonary disease (COPD) or even asthma.

Alpha-1 can be detected by a simple test that determines the level of ATT in the blood. The most common signs and symptoms of alpha-1 are:

• A family history of alpha-1, or lung or liver disease
• Recurring respiratory infections
• Shortness of breath at rest or with exercise
• Rapid deterioration of lung function without a history of significant smoking
• Decreased tolerance for exercise
• Nonresponsive asthma or year-round allergies
• Abnormal liver test results

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