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
“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
“You haven’t given your all to your COPD patients unless you
screen them for AATD,” added Dr. Rahaghi. “What if they do have
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
“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
“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.”
Baxter is a registered trademark of Baxter International Inc.
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properties of their respective owners.
1. Alpha-1 Foundation.
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
Accessed November 16, 2010.
4. Cystic Fibrosis Foundation. About cystic fibrosis. Available at:
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.