November Marks Awareness Initiatives for Alpha-1-Antitrypsin Deficiency

By CooperGenomics — November 26, 2012

1 min read

This November is Alpha-1 Antitrypsin (AAT) awareness month.  Throughout the United States, United Kingdom, Australia and Canada, many different organizations, government initiatives and patient awareness groups have been working diligently to promote AAT awareness. AAT is one of the most common genetic disorders in the Caucasian and Hispanic populations in the U.S., affecting 1 in 5,000 newborns. Worldwide, this disease has higher incidence among Northern European populations.

AAT affects the lungs and liver. In this disease, the enzyme, neutrophil elastase, does not function properly and attacks the body’s own tissues, especially the lungs and liver. Affected individuals develop lung disease between the ages of 20 and 50, which often leads to emphysema, a disease usually associated with heavy smokers. A smaller proportion of affected patients also develop liver disease as children or as adults, leading to jaundice and sometimes liver failure.

Treatment options for AAT are varied. Lung transplantation or liver transplantation may be appropriate for patients with end-stage lung disease or liver disease due to AAT. Vitamin E therapy has been demonstrated to improve liver function in symptomatic infants and may help prevent oxidative damage to the lungs. It is important that individuals with AAT avoid smoking. More recently, new research was presented at the 63rd Annual Meeting of the American Association for the Study of Liver Diseases for an RNAi therapeutic for the treatment of liver disease associated with AAT.

By raising awareness for AAT, we can ensure that affected individuals are diagnosed and treated appropriately. Diagnosis is particularly challenging for individuals with AAT.  In fact, even though AAT affects approximately 100,000 people in the United States, less than 10 percent of affected individuals have been properly diagnosed. Since AAT causes permanent organ damage, delayed diagnosis can result in irreparable damage.

To learn more about AAT and the Alpha-1 Association visit www.alpha1.org.  The Alpha-1 Association strives to improve the quality of life for those affected through support, education, advocacy, and research. They also offer a free Genetic Counseling Program (1-800-785-3177) that provides confidential information and resources to those diagnosed, their family members and medical professionals.  Support is also available through the Alpha-1 Foundation.  For those outside of the U.S. support is available in the U.K through Alpha-1 Awareness UK, in Australia through the Alpha-1 Association of Australia  or in Canada through Alpha-1 Canada.