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A new initiative is underway to optimize the management of patients with a
fairly common and potentially lethal lung disease known as alpha-1 antitrypsin
disorder, or alpha-1. Part of the initiative involves an effort to increase
awareness among physicians to be on the lookout for alpha-1 in certain patients,
including those who have common lung conditions such as chronic obstructive
pulmonary disease, emphysema and asthma.
Driving the initiative is the recent publication of new guidelines for the
diagnosis and management of alpha-1. The guidelines were published in several
medical journals, including the October 1 issue of the American Journal of
Respiratory and Critical Care Medicine; they replace similar guidelines last
published in 1989.
Significant advances in the understanding of the disease prompted the
creation of a task force four years ago by the American Thoracic Society and the
European Respiratory Society. The task force mobilized alpha-1 specialists from
around the world to review data about the disease and to collaborate on creation
of new diagnosis and treatment guidelines.
"Alpha 1 is a relatively common, but under-recognized disorder,"
says Cleveland Clinic physician James K. Stoller, M.D., M.S., an expert on
alpha-1 and a task force member who helped write the new guidelines. "The
goal of these new guidelines is to enhance recognition of alpha-1 so that
individuals who have it—and their families—can get ideal management."
In fact, alpha-1 is one of the most common and serious inherited disorders in
the world; in children it can cause life-threatening liver disease and in adults
chronic lung disease that requires treatment for life. Some patients may require
liver or lung transplants. The disease occurs most commonly among Caucasians.
According to the Alpha-1 Foundation, an estimated 100,000 Americans and a
similar number of Europeans have the severe form of the disease, although many
have not been diagnosed. The Florida-based nonprofit agency advocates for and
sponsors research seeking a better understanding of, and ultimately a cure for,
the disease.
Earlier diagnosis is beneficial
Alpha1-antitrypsin, or AAT, is a protein produced by the liver;
the protein protects the lungs from an enzyme carried in white blood cells and
in turn helps preserve normal lung function. In people with the disorder, the
liver produces too little or no AAT. Over time, the deficiency causes damage to
lung tissue that results in poor lung function and difficulty breathing. Common
early symptoms include cough, difficulty breathing or exhaling and wheezing. As
is the case with other chronic diseases, the earlier that detection or diagnosis
of alpha-1 occurs, the better the chances of minimizing symptoms and even
slowing disease progression.
"The evidence tells us that earlier diagnosis of affected individuals
can confer benefit to them," says Dr. Stoller, who heads the section of
respiratory therapy in the Clinic’s Department of Pulmonary, Allergy and
Critical Care Medicine. He says the earlier people are diagnosed, the sooner
they can modify behaviors—smoking, for instance—that can aggravate the
condition or accelerate the rate of tissue damage, and the sooner they can begin
augmentation therapy. This involves increasing the deficient AAT levels in the
bloodstream by the infusion of purified AAT.
Such treatment, says Dr. Stoller, "has been shown to slow the rate of
decline of lung function. It doesn’t eliminate the decline, but in selected
individuals, it does slow it." That also means slowing the rate of decline
in quality of life for people with the disease. Patients must maintain the
treatment for life, says Dr. Stoller. Although expensive, most health insurance
plans offer reimbursement for alpha-1 treatment.
Free testing
Dr. Stoller says that a simple blood test can be used to detect alpha-1.
Physicians can get test kits for free from the Alpha-1 Foundation; individuals
can also be tested on a confidential basis through the Foundation's Alpha-1
Coded Testing Trial. (To obtain free alpha-1 test kits, call the Alpha-1
Foundation toll free at 1-877/228-7321, ext. 217.)
Dr. Stoller encourages physicians to review the new guidelines "because
they clarify the clinical circumstances in which one should be suspicious for
the disease. Then physicians can be on the alert for the common clinical
presentation." And, he says, "They should have a low threshold for
testing, particularly since testing is available for free." In other words,
if results from the patient examination and history suggest a risk for alpha-1,
then patients should get the blood test.
Dr. Stoller also encourages physicians to collaborate with pulmonologists who
have experience diagnosing and treating alpha-1. "We need to heighten our
suspicion for the presence of this disease," says Dr. Stoller.
Collaborating with specialists, he says, could also help identify alpha-1
patients who might otherwise be overlooked or misdiagnosed. For instance, it is
not uncommon for alpha-1 to be mistaken for chronic obstructive pulmonary
disease, a group of diseases that also cause airflow blockage and
breathing-related problems.
Dr. Stoller has been studying alpha-1 in Cleveland since 1988, when the
Clinic became the coordinating center for the Alpha 1-Antitrypsin Deficiency
Registry Study. The National Institutes of Health study involved 37 medical
centers and enrolled 1,129 individuals, age 18 or older, who had been diagnosed
with alpha-1. The study participants were monitored for seven years so that
researchers could study what happens as the disease progresses, chart the rate
of progression of tissue damage and monitor the effects of treatment. Results
from the study helped demonstrate the benefits of early diagnosis and treatment,
says Dr. Stoller.
In addition to the American Thoracic Society and the European Respiratory
Society, additional collaborators on the new guidelines included the American
College of Chest Physicians, the American Association for Respiratory Care and
the Alpha-1 Foundation.
For more information, visit:
Alpha-1 Foundation
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