What is Alpha-1? Alpha-1 Antitrypsin Deficiency (AAT Deficiency or Alpha-1) is one of the most common serious hereditary disorders in the world and can result in life-threatening liver disease in children and adults or in lung disease in adults. Alpha-1 has been identified in virtually all populations. An estimated 100,000 Americans and a similar number in Europe have the severe deficiency. An estimated 25 million people in the U.S. carry a single deficient gene that causes Alpha-1 and may pass the gene on to their children. Alpha-1 is widely under-diagnosed and misdiagnosed. · Less than 10% 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. Alpha-1 can be detected by a simple blood test. Alpha-1 can lead to lung destruction and is often misdiagnosed as Chronic Obstructive Pulmonary Disease (COPD) or asthma. 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 originates in the liver and can lead to liver failure at any time in life. It is the leading genetic cause of liver transplantation in children. Currently, the only treatment for the liver disease of Alpha-1 is a liver transplant. The most common signs and symptoms of Alpha-1 are: Family history of lung disease or infant liver disease Recurring respiratory infections: Shortness of breath or awareness of one's breathing Rapid deterioration of lung function without a history of significant smoking Decreased exercise tolerance Chronic liver problems Non-responsive asthma or year-round allergies Elevated liver enzymes The World Health Organization (WHO) recommends that all individuals with COPD, as well as adults and adolescents with asthma (an estimated 30 million Americans) be tested for Alpha-1. For more information on Alpha-1, please call The Alpha-1 Foundation toll-free at: 1-877-2 CURE A1 (1-877-228-7321) or click on link below Web Page Links Hunter's Gift Recommended Sites: Texas Children's Liver Center C.L.A.S.S. Kids United Network for Organ Sharing Alpha-1 Antitrypsin Deficiency Support Group Information on Alpha-1 Alpha-1 Foundation Alpha-1 Association Alpha Net American Liver Foundation Alpha-1 Advocacy Alliance |
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