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"I was going to some of the most prominent allergists in the nation locally, and elsewhere, and, it took them years to make the correct diagnosis. I could have made lifestyle changes that would have positively influenced my health. And, now I can’t help but wonder, how many others did they miss? You know, there are 10 million people with COPD in the United States. How many of them have Alpha-1?" — Frederick J. de Serres, Ph.D.
If you have found your way here, chances are you, or someone you care about, may have some trouble breathing, or have been diagnosed with COPD. One underlying cause of COPD is Alpha-1 Antitrypsin Deficiency, or Alpha-1. Alpha-1 also is known as "genetic emphysema" because it is caused by a detectable genetic flaw. It may not be the result of smoking or other exposure to substances harmful to the lungs.
If you have become breathless while performing simple tasks around the house or at work, you may have COPD, emphysema, or irreversible adult onset asthma, all of which could have Alpha-1 as an underlying factor.
Alpha-1 also can cause liver disease. The Alpha-1 Antitrypsin (AAT) protein made in the liver cannot be released into the blood in Alpha-1 patients. The AAT is responsible for protecting body tissues. When the AAT is not able to perform its job, liver injury and, sometimes, liver disease can occur.
Common signs and symptoms of Alpha-1 are listed below. Alpha-1 often is under- and misdiagnosed. The Alpha-1 Foundation is creating a program to help you and your loved ones learn more about Alpha-1. Our goal is to encourage patients who have been diagnosed with COPD to seek testing for Alpha-1.
Common Signs and Symptoms of Alpha-1: - Family history of lung disease or liver disease
- Symptoms:
- Shortness of breath or awareness of one’s breathing
- Wheezing
- Coughing
- Sputum (or phlegm) production
- Decreased exercise tolerance
- Non-responsive asthma or year-round allergies
- Recurring respiratory infections
- Rapid deterioration of lung function without a history of significant smoking
- Unexplained liver problems
- Elevated liver enzymes
Patients diagnosed with the following diseases should be tested for Alpha-1.- Chronic Obstructive Pulmonary Disease (COPD)
- Emphysema
- Bronchiectasis
- Chronic bronchitis
- Asthma that is incompletely reversible after aggressive treatment
- Chronic liver disease
- Unexplained liver disease in infants and children
- The skin disease panniculitis
It is important to note people with Alpha-1 may not show any signs of the disorder for many years. This does not mean you will not have symptoms in the future.
If you have been diagnosed with COPD and need to get tested for Alpha-1, visit your family physician and get tested. If you do not have a family physician and would like to find an Alpha-1 expert in your area, please click here for more information.
For more information on Alpha-1, please visit The Alpha-1 Foundation's Web site.
Important Facts About Alpha-1
Alpha-1 has been identified in virtually all populations. An estimated 100,000 Americans, and a similar number in Europe, have the deficiency.
Alpha-1 is widely under-diagnosed and misdiagnosed. Less than 10 percent of those predicted to have Alpha-1 have been diagnosed. According to a recent study, it takes an average of three doctors and seven years from the time symptoms first appear before proper diagnosis is made.
An estimated 25 million people in the United States are undetected carriers of an abnormal gene that causes Alpha-1, and may pass the gene on to their children.
Alpha-1 can lead to lung destruction and is often misdiagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). Lung disease is the most frequent cause of disability and early death among affected persons, striking in the prime of life, and a major reason for lung transplants.
The World Health Organization (WHO), American Thoracic Society, and European Respiratory Society recommend all individuals with COPD be tested for Alpha-1. |
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