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Diagnosing Alpha-1

How can doctors tell if emphysema is caused by smoking or Alpha-1? While the symptoms are generally the same, there are a few differences in the two diseases that offer some clues. Regular emphysema usually develops in the upper part of the lungs first. Alpha-1, however, usually starts in the lower lung regions, where the air sacks are located. Most people who develop regular emphysema do so after years and years of cigarette smoking, so most are older. Alpha-1 often makes its presence known between the ages of 20 and 40.

To truly diagnose Alpha-1, however, requires a blood test. This simple test measures the amount of AAT in a person’s blood. Free testing is available through the University of Florida’s Alpha-1 Genetics Laboratory. For more information, call (877) 228-7321. A confidential testing program is also available through the Alpha-1 Research Registry at the Medical University of South Carolina, (877) 886-2383.

Given the simple nature of the test, many believe everyone with emphysema—regardless of age—should be tested. If you are diagnosed with Alpha-1, your family members—including children—may also want to be tested, since there is a chance they have inherited the condition as well. Anyone found to have low levels of AAT in the blood should quit smoking immediately, or never start. Smoking greatly increases the risk of developing emphysema at an early age in these individuals.

People suspected of having Alpha-1 may also undergo pulmonary function and other tests to help determine the extent of the lung damage and also to measure progression of the disease.

2024 American Association for Respiratory Care