Since 2004, Baxter Healthcare Corporation and the Alpha1 Center, a medical diagnostic laboratory in Salt Lake City specializing in the detection of alpha-1 antitrypsin deficiency (AATD), have coordinated a nationwide effort to help physicians rule out the genetic disorder. In August 2011, this program reached an unmatched milestone by testing its 100,000th patient for AATD.
People with AATD have reduced levels of a naturally occurring blood protein that protects the lungs. If untreated, AATD can result in early onset emphysema, liver damage and premature death.1 It is one of the most common potentially lethal hereditary disorders.2 The American Lung Association estimates the prevalence of AATD in the U.S. at about 100,0003, three times greater than cystic fibrosis4 or Huntington's disease,5 and about 50 percent higher than sickle cell anemia.6
A recent estimate based on screening studies in the general population suggested that only 10% of people who have AATD are diagnosed.7 Baxter and the Alpha1 Center's AlphaTest® kit program helps encourage screening for this hereditary disease.
Wayne Vicknair has a special appreciation for the value of AATD screening. While vacationing in Aruba in 2008, Wayne suddenly couldn't breathe. At the time he was 49 years old and had become accustomed to shortness of breath. Several years earlier he had been diagnosed with exercise-induced asthma, which he tried to manage with a variety of drugs.
Upon returning to his New Orleans home, Wayne was referred to a pulmonologist. When heavy doses of medication failed to improve his condition, the doctor recommended that Wayne be screened for AATD.
"The doctor said he didn't know what was wrong with me," Wayne remembered. "Earlier that day he had discussed AATD screening with a Baxter representative, which led to my doctor deciding to test me. He didn't think I had the deficiency, but I'm very glad he ordered the test.
"Once I was diagnosed with AATD and emphysema, it was a relief. You know what's causing your problems and you can start treating it. I've been using AAT augmentation and I've returned to exercise walking and snorkeling, all because of a simple finger prick to draw the blood for the test."
Testing 100,000 People is Significant
"This is an important milestone and I'm grateful for the test kits. It puts testing into the hands of the physician's office," said F. Franck Rahaghi, MD, MHS, medical director, Pulmonary Education and Rehabilitation Department, Cleveland Clinic Florida. "Today we know that AATD is not a rare disease, and that detecting deficient patients merely requires a simple blood test, typically offered at no charge to COPD patients. We also know that affected individuals can benefit from effective treatments, and their families deserve to know their status, as well."
"Our mission is to identify patients who would benefit from lifestyle changes based on a correct diagnosis and their physicians' recommendations," explained Melody Campbell, technical supervisor of the Alpha1 Center. "The earlier we detect these patients, the sooner they'll know what adjustments might help maintain or improve their health."
The American Thoracic Society/European Respiratory Society (ATS/ERS) has issued guidance that every Chronic Obstructive Pulmonary Disease (COPD) patient should be tested for AATD at least once.8 The number of healthcare professionals who follow this guideline is growing, thanks in part to Baxter's partnership with the Alpha1 Center and to other patient-focused organizations, such as the Alpha-1 Foundation and Alpha-1 Association.
"Physicians should screen every COPD, asthma, bronchiectasis and dyspnea of unknown etiology patients for AAT deficiency. This would put physicians on firm ground and comply with guidelines established by ATS/ERS criteria for diagnosing AAT deficiency and managing COPD patients," said Satyasagar Morisetty, B.Sc. MD, FCCP. Dr. Morisetty called the AlphaTest® kit "an easy screening test and very appropriate for use in a physician's office."
"You haven't given your all to your COPD patients unless you screen them for AATD," added Dr. Rahaghi. "What if they do have it?"
A Life-Altering Blood Test
That What if? mindset changed Wayne Vicknair's life forever. Wayne is glad that his pulmonologist saw it the same way, and he hopes other undiagnosed patients are one day as fortunate as him.
"I hope more doctors do AATD screening if only to rule it out," Wayne said. "My doctor said he didn't think I had AATD and most of the alpha-1 patients I've talked with said their doctors were also skeptical. And some doctors say they don't want to test patients who they feel wouldn't be appropriate to treat if they did have it. But if there's a genetic component to a patient's disease, wouldn't you want to enable their relatives to know if they have AATD or if they are carriers of the genetic disorder?"
"Screening is critical for patients and their family members," Dr. Rahaghi said. "If it weren't for the healthcare professionals who appreciate that every COPD patient should know his or her AAT status, we would be years away from reaching this important milestone of 100,000 people tested."
According to Edward J. Campbell, MD, laboratory director of the Alpha1 Center and developer of the AlphaTest® kit, "It's only a matter of time before AATD testing becomes as routine as testing for other disabling diseases. It takes a while before testing for an under-recognized disorder becomes ingrained in the practice of medicine, but the time is coming for AATD. It's inevitable."
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1. Alpha-1 Foundation. http://www.alpha-1foundation.org/news/advocates-in-chicago-raising-awareness-for-alpha-1-testing. Accessed August 15, 2011.
2. de Serres FJ, Blanco I, Fernandez-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet. 2003;64(5):382-397.
3. American Lung Association. Alpha-1 Antitrypsin Deficiency Emphysema. Available at http://www.kintera.org/site/apps/ninet/content3.aspx?c=hklYLdMSJtE&b=2604517&ct=3004003¬oc=1. Accessed November 16, 2010.
4. Cystic Fibrosis Foundation. About cystic fibrosis. Available at: http://www.cff.org/AboutCF/. Accessed June 1, 2011.
5. Huntington's Disease Society of America. Genetic testing for Huntington's Disease: its relevance and implications; 2001. Available at: http://www.hdsa.org/images/content/1/1/11884.pdf. Accessed June 4, 2011.
6. American Sickle Cell Association. How common is sickle cell anemia? Available at: http://www.ascaa.org/How_Common_Is_Sickle_Cell_Anemia.asp. Accessed June 1, 2011.
7. Silverman EK, Sandhaus RA. Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749-2757.
8. American Thoracic Society, European Respiratory Society Task Force. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.