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What Is Alpha-1 Antitrypsin Deficiency?
Facts on Alpha-1
This information was copied from the Alpha-1 Foundation site. We thank them and Dr. Sandhaus for the writing of this article. Please visit the Alpha-1 Foundation for more information.
Alpha-1 Antitrypsin Deficiency (Alpha-1) is one of the most common serious hereditary disorders. Alpha-1 has been identified in virtually all populations but is most common in individuals of Northern European (Scandinavian and British) and Iberian (Spanish and Portuguese) descent. An estimated 100,000 Americans and a similar number in Europe have severe deficiency. Alpha-1 results in low levels or a lack of an essential blood protein that protects tissues in the lungs from being destroyed by enzymes released from the body's own white blood cells.
Alpha-1 is a life-threatening genetic disorder for which there is currently no cure. Originally discovered in 1963, an estimated 21 million Americans now are undetected carriers of the abnormal Alpha-1 gene and may pass it on to their children. Alpha-1 is a leading genetic killer of adults in the United States. Alpha-1 is a single gene disorder and, therefore, has a high probability of being cured in the near future.
Chronic Obstructive Pulmonary Disease (COPD) is the most common clinical manifestation of Alpha-1 and the most frequent cause of disability and death among affected persons. Alpha-1 is a major reason for lung transplants in adults.
Liver disease, the second most frequent manifestation of Alpha-1, typically presents as abnormal liver function in infancy. This can lead to liver failure in childhood, making Alpha-1 one of the primary causes of liver transplantation in children. Alpha-1 may also cause progressive liver damage in adults, often going undetected until reaching a critical life-threatening stage.
The only approved treatment for the lung disease caused by Alpha-1 is weekly intravenous augmentation of the Alpha-1 protein at an estimated annual cost of $60,000 per person. Alpha-1 can lead to lung destruction (emphysema) in people of all ages even in the absence of smoking. Alpha-1 lung destruction usually appears in adults during the third through fifth decade of life.
Alpha-1 is widely under-and misdiagnosed and is as common as Cystic Fibrosis (CF).
Fewer than six percent of individuals predicted to have Alpha-1 have been diagnosed just in the United States, although Alpha-1 is easily identifiable by a blood test. It is estimated that as many as three percent of individuals with COPD have Alpha-1. Approximately 16 million people in the US have COPD, making it a leading cause of death and disability.
Early diagnosis and intervention can be critical in preventing lung damage or early death as well as in reducing major economic costs to both patients and society in terms of lost wages, disability payments, and medical care costs. Median survival among individuals diagnosed with Alpha-1 who become ill is only 54 years of age.
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