A genetic disorder can only be confirmed through genetic testing1
Range of serum AAT levels by phenotype (uM)
Since alpha1 antitrypsin is an acute-phase reactant, serum levels alone can be misleading and are not a complete diagnosis. A genotype test is therefore recommended along with a serum level test.2,3
Of more than 500,000 patients tested through an independent, certified laboratory, >15% (76,634) were positive for a deficient allele.1
An alpha-1 family tree
Model based on an actual family tested for alpha-13
Any deficient allele should prompt an immediate discussion of testing the whole family.4
Patients with alpha-1 with at least one deficient allele have a genetic susceptibility to lung disease. Early testing is essential so that family members—if tested positive for alpha-1-may utilize disease-management programs to potentially improve patient outcomes.3,4
Detecting patients with deficient alleles is crucial
- AlphaID™ is free and makes it easy to screen for alpha-1
- A simple cheek swab sample provides 100% accurate and reliable genotyping results3,5
I know now, as an expert in alpha1-antitrypsin deficiency, it's not really rare, it's just rarely thought of, or rarely tested.
The only way to know [if a person has alpha-1] is by screening. You know, [patients with alpha-1] look the same. They walk the same. They cough the same. They have all the same symptoms as your other patients with COPD. The only way to know is by screening.
IMPORTANT SAFETY INFORMATION
PROLASTIN®-C LIQUID is an alpha1-proteinase inhibitor (human) (alpha1-PI) indicated for chronic augmentation and maintenance therapy in adults with clinical evidence of emphysema due to severe hereditary deficiency of alpha1-PI (alpha1-antitrypsin deficiency).
Limitations of Use
- The effect of augmentation therapy with any alpha1-PI, including PROLASTIN-C LIQUID, on pulmonary exacerbations and on the progression of emphysema in alpha1-PI deficiency has not been conclusively demonstrated in randomized, controlled clinical trials
- Clinical data demonstrating the long-term effects of chronic augmentation or maintenance therapy with PROLASTIN-C LIQUID are not available
- PROLASTIN-C LIQUID is not indicated as therapy for lung disease in patients in whom severe alpha1-PI deficiency has not been established
PROLASTIN-C LIQUID is contraindicated in immunoglobulin A (IgA)-deficient patients with antibodies against IgA or patients with a history of anaphylaxis or other severe systemic reaction to alpha1-PI products.
Hypersensitivity reactions, including anaphylaxis, may occur. Monitor vital signs and observe the patient carefully throughout the infusion. If hypersensitivity symptoms occur, promptly stop PROLASTIN-C LIQUID infusion and begin appropriate therapy.
Because PROLASTIN-C LIQUID is made from human plasma, it may carry a risk of transmitting infectious agents, eg, viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent. This also applies to unknown or emerging viruses and other pathogens.
The most common adverse reactions during PROLASTIN-C LIQUID clinical trials in >5% of subjects were diarrhea and fatigue, each of which occurred in 2 subjects (6%).
Please see full Prescribing Information for PROLASTIN-C LIQUID.
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.
1. Data on file, Alpha-1 Genetics Laboratory. 2. World Health Organization. α1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415. 3. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900. 4. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with the α1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186. 5. Learning about alpha-1-antitrypsin deficiency (AATD). National Human Genome Research Institute. http://www.genome.gov/19518992. Accessed August 15, 2014.