Alpha-1 Fast Facts

• Alpha-1 Antitrypsin Deficiency (Alpha-1) is one of the most common serious hereditary disorders in the world and can result in life-threatening lung or liver disease.

The most common signs and symptoms of Alpha-1 are:

• Family history of lung disease or liver disease
• Elevated liver enzymes
• Shortness of breath or awareness of one’s breathing
• Recurring respiratory infections
• Decreased exercise tolerance
• Non-responsive asthma or year-round allergies
• Rapid deterioration of lung function without a history of significant smoking
• Unexplained liver problems

Alpha-1 has been identified in virtually all populations. An estimated 100,000 Americans and a similar number in Europe have the deficiency.

• Alpha-1 is widely under diagnosed and misdiagnosed.

Less than 10 percent of those predicted to have Alpha-1 have been diagnosed. It often takes an average of three doctors and seven years from the time symptoms first appear before proper diagnosis is made.

• An estimated 25 million people in the U.S. are undetected carriers of an abnormal gene that causes Alpha-1 and may pass the gene on to their children. Alpha-1 Carriers may be at risk for lung and/or liver disease.
• Alpha-1 can lead to lung destruction and is often misdiagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). Lung Disease is the most frequent cause of disability and early death among affected persons – striking in the prime of life – and a major reason for lung transplants.
• Alpha-1 can lead to liver failure in childhood, making it major cause of liver transplantation in children. It may also cause progressive liver damage in adults, often going undetected until reaching a critical, life-threatening stage.
• The World Health Organization (WHO) and American Thoracic Society recommends that all individuals with COPD be tested for Alpha-1 – an estimated 10 million Americans. Alpha-1 can be detected by a simple blood test for the new mouth swab test.