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| The Danger of Undiagnosed Breathing Problems Hereditary Emphysema Derails Executive |
Annie Garcia wishes she'd known about hereditary emphysema before she changed her life. In 2002, Annie considered herself to be among thousands of New Yorkers who were suffering breathing problems due to post-9/11 poor air quality. She was so certain about the cause of her increasingly labored breathing that she moved away from New York City, leaving behind a home and corporate lifestyle that she loved.
Her symptoms grew worse, and Annie struggled to manage them on her own. As a noted Hispanic executive with an impressive corporate resume, she was used to taking charge, but it took a full-scale medical emergency to persuade Annie to seek help.
In the middle of an important meeting, Annie was terrified to realize she could not exhale. She was hospitalized and then referred to a pulmonologist, who administered a battery of inconclusive tests. As a last resort, he ordered a simple, inexpensive Alpha-1 Antitrypsin (AAT) deficiency blood test.
That is how Annie learned that she is one of the approximately 100,000 people in the United States with AAT deficiency,1 a genetically linked disorder also known as hereditary emphysema or Alpha-1. AAT deficiency is a progressive disease caused by a reduction or lack of the blood protein AAT in the lungs. Up to 95 percent of those with AAT deficiency are undiagnosed.1
Annie's pulmonologist recommended she start weekly infusions of alpha1-proteinase inhibitor, an augmentation therapy that raises concentrations of the AAT protein in the lungs. Annie also wears a cannula (slender tubes inserted in her nostrils to provide oxygen) around the clock and takes medications daily. "According to my doctor," said Garcia, "I have experienced about a 40 percent improvement in lung function since starting therapy.
"If properly diagnosed, I probably would have stayed in New York. But I feel fortunate," Annie said. "Thanks to my diagnosis and follow-up care, I now feel strong, physically and psychologically."
For Annie and many other Alphas, treatment frequently includes bronchodilators to reduce airway constriction, inhaled corticosteroids to reduce inflammation, and pulmonary rehabilitation to improve cardiovascular function and exercise tolerance, according to her pulmonologist, William R. Kenny, M.D., of Piedmont Pulmonary Consultants in Atlanta.
"We encourage people with serious breathing difficulties to quit or never start smoking, maintain good physical condition, eat healthfully and ask their doctors for an accurate diagnosis," Dr. Kenny said. "With awareness, lifestyle changes and treatment of chronic obstructive pulmonary disease (COPD) and related conditions, like AAT deficiency, people can successfully manage their symptoms and lead full, active lives."
People with COPD, early onset emphysema, asthma that doesn't respond well to medication, liver disease with unknown cause, or family history of these diseases are encouraged to ask their doctors about an AAT deficiency test. Baxter Healthcare Corporation offers complimentary test kits to physicians to screen their patients for the condition. Baxter sponsored a nationwide screening and prevalence study to identify people at risk for AAT deficiency. To date, the company has helped test more than 13,000 individuals for AAT deficiency.
"Early diagnosis of Alpha-1 is critical since the condition cannot be reversed once it causes deterioration in the lungs," said Dr. Kenny.
For details about AAT deficiency or to order an educational brochure about the condition, call 1-866-272-5278 or visit www.alpha1health.com.
Up to 95 percent of those with AAT deficiency are undiagnosed.
1 American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Resp Crit Care Med 2003;168:818-900. |
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