Alpha-1 Antitrypsin Deficiency
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 in children and adults.
Alpha-1 has been identified in virtually all populations. An estimated 100,000 Americans and a similar number of Europeans have the severe deficiency. The number of affected people in Latin American countries is not known but expected to be high as well. The reason why most people haven’t heard about the disease is because it is widely under-diagnosed and misdiagnosed. As a fact, less than 10% of those predicted to have Alpha-1 have been diagnosed: studies have shown that it often takes an average of three doctors and seven years from the time the symptoms first appear before proper diagnosis is made. The estimated number of undetected carriers in the US is around 26 million.In addition, 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 emphysema, chronic bronchitis or Chronic Obstructive Pulmonary Disease (COPD). Lung disease is the most frequent cause of disability and early death among affected persons and a major reason for lung transplantation. Alpha-1 can also lead to liver failure in childhood (a major cause of liver transplantation in children) and may cause progressive liver damage in adults.
Our group includes both clinicians and scientists who have a special interest in the study and management of Alpha-1. We are collaborating in clinical trials with the Alpha-1 Foundation and have a special interest in studying why individuals with this disorder develop airway disease. Our strong commitment to care and research in Alpha-1 has established us as a referral center for patients suffering from this disease in South Florida.
All individuals with COPD, as well as adults and adolescents with asthma, an estimated 30 million Americans, should be tested for Alpha-1. Screening for this disorder is now endorsed by the World Health Organization (WHO), the American Thoracic Society (ATS) and the European Respiratory Society (ERS). Alpha-1 can be detected by a simple blood test. If you live in Miami and want to be tested call us at 305-243-2568. The test is free. You can also call the Alpha-1 Foundation toll-free at 1-877-2 CURE A1 (or 1-877-228-7321) for more information on Alpha-1, or for a free blood testing kit.
