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 detect alpha-1 antitrypsin levels. 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.

The laboratory test measures alpha-1 antitrypsin levels in the blood, which are reported using two units of measurement: milligrams per 100 ml (mg%) and micromoles per liter (µM/L). Both measurements provide the same basic information on how much alpha-1 antitrypsin is in the blood.

People with two healthy copies of the alpha-1 gene produce the most alpha-1 antitrypsin, and people with no copies of the gene at all produce the least. In addition, environmental factors can affect how much alpha-1 antitrypsin is in the blood. An individual's genetic makeup (genotype) combines with environmental factors to determine their phenotype. Here are the more common phenotypes and their corresponding blood alpha-1 levels.
 

Phenotype	µM/L	mg%
MM (two normal copies)	20-53	150-350
MZ (one normal copy, one deficient copy)	12-28	90-210
SS (two marginally deficient copies)	13-27	100-210
SZ (one deficient copy, one marginally deficient copy)	10-16	75-120
ZZ (two deficient copies)	2.5-7	20-45
NULL (two nonfunctional copies)	0	0

Alpha-1 levels of 11 µM/L (80 mg%) or less put you at greatest risk of developing alpha-1 related emphysema. Smokers with intermediate deficiency levels (80 - 160 mg%) are also at increased risk of lung disease.

In the table above, M refers to the normal gene. Over 75 combinations of gene variations (alleles) have been identified, some of which can cause Alpha-1. The S, Z and Null genes are the most common ones that cause alpha-1 deficiencies. ZZ is the most common allele that causes lung disease.

The Null gene is one that produces no detectable levels of alpha-1. Alphas with the Null-Null phenotype are at the greatest risk of developing emphysema, yet none have suffered liver damage as a result of their Alpha-1

For more information on Alpha-1 testing, please click here to visit the Alpha-1 Foundation's webpage.