Alpha-1

Alpha-1 Week

Alpha-1 Week

Welcome to Alpha -1 Week at the ATS!

The American Thoracic Society (ATS) is pleased to recognize Alpha-1 Antitrypsin Deficiency Week, from Feb. 7-13, 2016. The Alpha-1 Foundation has been an important PAR partner and has assisted ATS in many ways, including through the PAR Research funding mechanisms for young investigators, as well as support for the Foundation Research Benefit each year. Additionally, the ATS and the Alpha-1 Foundation have joined together to provide educational information and guidelines for both patients and practitioners concerning this very important condition, and both are strong advocates for this community.

As Louis Pasteur stated in 1854, "chance favors the prepared mind."

Indeed, a discovery by Carl-Bertil Laurell and Sten Eriksson in 1963 revealed the lack of the critical alpha-1 antitrypsin protein in patients with emphysema. Alpha-1 Antitrypsin Deficiency, or Alpha-1, is the most common known genetic form of chronic obstructive pulmonary disease (COPD). An estimated 25 million people carry defective alpha-1 genes, and over 100,000 Americans have severe Alpha-1 Antitrypsin Deficiency. However, fewer than 10 percent have been diagnosed. In contrast, cystic fibrosis, another significant respiratory disease, affects 30,000 patients, and idiopathic pulmonary fibrosis affects 128,000. While effective treatment for Alpha-1 is available in the form of augmentation therapy, much more research is needed to help patients live with this condition, and to cure it.

Patients and physicians should be aware of the clinical pulmonary presentations of Alpha-1. From two patient registries, 54 percent had emphysema, 72 percent had respiratory symptoms, 45 percent had chronic bronchitis and 35 percent had a diagnosis of asthma. Also, another important respiratory disease chronic bronchiectasis can occur in this population. It is extremely important to do testing for Alpha-1, because the clinical presentation does not distinguish Alpha-1 from typical, non-genetic types of COPD. 

Alpha-1 is an imbalance of neutrophil elastase, an important enzyme released in the lung, and the alpha-1 antitrypsin protein, which provides protection from the elastase and prevents it from injuring the lung.  Prescreening for Alpha-1 is available from a number of providers. The Alpha-1 Foundation provides free kits for testing that can be sent to either the Alpha-1 Foundation testing center at the University of Florida or the Alpha-1 Registry at the Medical University of South Carolina.

Please remember that the condition can affect all ages ranging from severe biliary disease in children to emphysema, bronchiectasis and chronic liver disease in adults. It is an extremely significant condition that can be treated with augmentation therapy for Alpha-1 lung disease, and exciting new therapies are being tested for Alpha-1 liver disease. Hence, it is imperative to know your diagnosis and be informed as much as possible about your condition. The Alpha-1 Foundation and ATS provide helpful information for patients and providers with this deficiency on their websites, and they are strong advocates for the community. The research programs of both organizations are dedicated to finding a cure for this condition. The ATS welcomes its longstanding partner, the Alpha-1 Foundation, and the Alpha-1 community, throughout this week.

 

James Donohue, MD

James Donohue, MD
Division Chief, Professor
University of North Carolina School of Medicine
Member, ATS Board of Directors

Karen Erickson

Karen Erickson
Associate Executive Director
Community Engagement
Alpha -1 Foundation
Member, ATS Public Advisory Roundtable

 

ATS Alpha - 1 Partner

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The Alpha -1 Foundation has developed a solid infrastructure to promote research and the development of new therapies for improving the quality of life for those diagnosed with Alpha-1. It has fostered collaborations with investigators throughout the United States and Europe, working closely with the National Institutes of Health (NIH), the Food and Drug Administration (FDA), individuals affected by Alpha-1, and the pharmaceutical industry to expedite the development of improved therapies.