Grifols, a global healthcare company, has launched the “Look into Genetic COPD” educational campaign to raise awareness of chronic obstructive pulmonary disease (COPD) that is caused by alpha-1-antitrypsin deficiency (alpha-1), a rare genetic condition.
The global healthcare company, headquartered in Barcelona, Spain, is offering free blood tests for alpha-1, the commonly accepted way of diagnosing the condition.
Alpha-1 deficiency is estimated to affect 100,000 people in the U.S. but remains highly undiagnosed, with more than 90 percent of carriers not knowing they have it. The condition can remain unidentified for several years, often being misdiagnosed as asthma or as smoking-related COPD, overshadowed by the patient’s smoking history.
Up to 3% of people diagnosed with COPD may have undetected alpha-1.
Although not everyone with alpha-1 will experience complications, it can lead to serious liver and/or lung disease, including emphysema and COPD.
“Alpha-1 is a debilitating rare disease that is often overlooked,” Bill Zabel, president of Grifols North America sales and commercial operations, said in a press release. “Imagine suffering from a disease you don’t know you have. As a market leader and longstanding partner to the alpha-1 patient community, Grifols aims to help patients find answers about their condition, so they can make informed decisions.”
Alpha-1 is hereditary, caused by the presence of two abnormal copies of the alpha-1 antitrypsin gene, one from each parent.
The gene instructs for the production of the alpha-1 antitrypsin protein, which is produced in the liver but transported to the lungs, where it safeguards the organ against inflammation caused by irritating substances such as cigarette smoke.
In people with abnormal alpha-1 antitrypsin, the protein cannot normally leave the liver and accumulates inside it.
Although people with Alpha-1 may remain healthy throughout their life, it increases the risk for liver and lung injury.
Early diagnosis and avoiding risk factors such as smoking can help prevent alpha-1 from causing disease.
Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; a blood test is needed to make the diagnosis.
Grifols’ “Look Into Genetic COPD” campaign provides information about the condition, and offers COPD patients in the U.S. a free alpha-1 test kit.
The kit is delivered directly to the patient, who should bring it to his or her healthcare provider to be completed. The test takes less than 10 minutes, and it is based on a quick and easy finger-stick. Results are processed and delivered free of charge.
“Reaching undiagnosed patients with Alpha-1 is important so that additional treatment options can be discussed,” said Robert Sandhaus, a professor of medicine and director of the Alpha-1 Program at National Jewish Health in Colorado.
According to Sandhaus, Grifols’ campaign “is bringing much-needed attention to Alpha-1 and provides the tools that patients with COPD need to have conversations about Alpha-1 with their doctors.”
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