How Is Alpha-1 Diagnosed?

Although Alpha-1 is one of the most common genetic disorders in the world, it is often misdiagnosed. Many times patients are told they have asthma, bronchitis, symptoms related to stress, emphysema caused by smoking, or simply chronic obstructive pulmonary disease of unknown cause.

The most common indicators of Alpha-1 include shortness of breath, a chronic cough, and abnormal liver test results. If you have any of these symptoms there is a simple blood test that can determine if you have Alpha-1. This test is also recommended if you have relatives, especially siblings, who have been diagnosed with alpha-1, or if there is a family history of early emphysema, with or without smoking.

There are different types of tests for Alpha-1. One laboratory test measures alpha-1 antitrypsin levels in the blood, which can be reported in two different units of measurement: milligrams per deciliter (mg/dL) or micromoles (µM). Both measurements provide the same basic information on how much alpha-1 antitrypsin is in the blood. 

People with two normal copies of the alpha-1 gene produce the most alpha-1 antitrypsin, and people with two deficiency copies of the gene produce the least. In addition, environmental factors can affect how much alpha-1 antitrypsin is in the blood. Here are the more common genotypes and their corresponding blood alpha-1 levels.

 

Genotype

µM

mg/dl

MM (two normal copies)

20-48

150-350

MZ (one normal copy, one deficient copy)

17-33

90-210

SS (two marginally deficient copies)

15-33

100-200

SZ (one deficient copy, one marginally deficient copy)

8-16

75-120

ZZ (two deficient copies)

2.5-7

20-45

NULL (two nonfunctional copies)

0

0

 

Alpha-1 levels of 11 µM or less put you at greatest risk of developing alpha-1 related lung disease. Smokers with intermediate deficiency levels (17-33 µM) are also at increased risk of lung disease.

 

In the table above, M refers to the normal allele. Over 100 alleles, forms of the gene for Alpha-1, have been identified, some of which can cause Alpha-1. The S and Z alleles are the most common ones that cause alpha-1 deficiency. ZZ is severe deficiency of alpha-1 and is associated with lung disease.

 

The Null alleles are ones that produce no detectable levels of alpha-1. Alphas with the Null-Null genotype are at the greatest risk of developing lung disease; however, they may not have the same risk for liver disease as an individual that is ZZ.

 

Free Testing in Florida

The State of Florida Department of Health and Human Services, the Alpha-1 Foundation and the University of Florida College of Medicine sponsor an awareness, screening and detection program for Alpha-1. This program is called the State of Florida Detection Program and it is free to Florida residents. It is administered through doctors’ offices using a finger stick test available from the Alpha-1 Foundation. Your test results will be mailed directly back to your doctor to ensure accurate interpretation. For more information on this program or if your doctor needs test kits, please contact Francisco Pena at the Alpha-1 Foundation at 1-888-825-7421 ext. 250 or fpena@alpha-1foundation.org. For more information on Alpha-1 testing, please click here to visit the Alpha-1 Foundation's webpage.