Clinical significance
α1-antitrypsin, a member of the serpin family, is an inhibitor of serine proteases (leucocyte elastase, trypsin, chymotrypsin). Many genetic variants of α1-antitrypsin are known, some of which are associated with clinically significant deficiencies. These deficiencies can cause liver disease.
Clinical indications
Congenital alpha-1 antitrypsin deficiency should be considered in the differential diagnosis of patients with emphysema, jaundice and liver disease in childhood and adulthood.
Sample type
The patient must have a blood sample taken
Preparation
You must fast for at least 8 hours; a small amount of water is allowed. You must have been standing or sitting upright for at least 30 minutes.
Notes
Stress, physical exercise, pregnancy, oral contraceptives and chronic lung disease can raise serum levels.
Levels below 40% of normal require α1-antitrypsin genotyping to clarify the cause.