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When alpha1-antitrypsin (AAT) deficiency is suspected, there are multiple steps that may be taken in regard to testing. One step is to measure AAT concentration (or level) in blood or serum. The AAT level is expressed in micromolar (μM) units.
The “threshold” above which there is sufficient AAT to protect the lungs (and below which the individual has an increased risk of developing emphysema compared to the general population) is 11 micromoles (μM).1
Another step may be to conduct a test to determine the actual genes carried by the individual. This testing is indicated for individuals who fulfill the criteria set forth in the ATS/ERS guidelines, who have a low AAT level and/or who have a family history of AAT deficiency.1
AAT protein in the blood can be phenotyped by isoelectric focusing in polyacrylamide gels.2,3 Genotyping is typically performed from whole blood by polymerase chain reaction, using primers specific for particular point mutations in the DNA.
Request free AlphaKits (alpha1 - antitrypsin deficiency test kits) and additional resources for you and your patients.
References:
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Buist S: Alpha1-antitrypsin deficiency – diagnosis, treatment, and control: Identification of patients. Lung. 1990;Suppl:543-551. |
| 2. |
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Gadek JE, Crystal RG: Alpha1-antitrypsin deficiency. In: Stanbury JB, Wynbgaarden JB, Fredrickson DS, Goldstein JI, Brown MS, eds. The Metabolic Basis of Inherited Disease. 5th ed. New York: McGraw-Hill, 1982;1450-1467. |
| 3. |
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Fagerhol MK, Cox DW: The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha1-antitrypsin. Adv Hum Genet. 1981;11:1-62, 371-372. |
| 4. |
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Campbell E: Data on file, 1999. |
Important Safety Information
Prolastin®, Alpha1-Proteinase Inhibitor (Human) is indicated for chronic replacement therapy of individuals having congenital deficiency of alpha-1 PI (alpha1-antitrypsin deficiency) with clinically demonstrable panacinar emphysema. Weekly Prolastin® therapy has demonstrated a low occurrence of side effects. In clinical studies with Prolastin®, reactions were observed in 1.16% of infusions, the most common events being fever (0.77%), light-headedness (0.19%), and dizziness (0.19%). As with all plasma-derived therapeutics, the potential to transmit infectious agents cannot be totally eliminated. Individuals with selective IgA deficiencies who have known antibody against IgA (anti-IgA antibody) should not receive Prolastin®, since these patients may experience severe reactions, including anaphylaxis, to IgA which may be present.
You are encouraged to report negative side effects of prescription drugs
to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.
Please click here for Prolastin® full Prescribing Information.
Remember, your doctor or healthcare provider is the single best source of information regarding you and your health. Please consult your doctor or healthcare provider if you have any questions about your health or any of your medications.
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