No.
- There is no scientific evidence (or even compelling suspicion) that it helps.
- There are both clinical and economic adverse effects.
- It depletes insurance money that could be used for other treatments, such as for COPD and other common morbidities.
Q: I am a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. with an MZ genotype. I have emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed.. Shouldn't I be put on augmentation therapy?
A: This is a difficult question and one with no perfect answer. The simplest response is to point out that the package inserts approved by the U.S. Food and Drug Administration for every one of the current augmentation therapies including Prolastin, Aralast, Zemaira, and Glassia require that an individual have emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. and be deficient in alpha-1 antitrypsin to receive such therapy. The Prolastin package insert even specifically states that it is not indicated in individuals with the MZ genotype.
But the question could still be asked, "Does having the MZ genotype contribute to the development of emphysema and, if so, wouldn't augmentation therapy be expected to be helpful?" It appears that there is consensus developing that individuals with the MZ genotype have an increased risk of developing emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. compared with the general population when exposed to risk factors such as cigarette smoking. That increased risk appears to be small. However, it is important to remember that the goal of augmentation therapy in individuals with Alpha-1 is to maintain the blood level of alpha-1 antitrypsin above 11 μM (or about 57 mg/dl). Virtually every individual with an MZ genotype has naturally occurring alpha-1 antitrypsin blood levels that exceed 11μM. In addition, recent studies have shown that non-smoking individuals with the MZ genotype are at no greater risk of developing emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. than non-smokers without an abnormal Alpha-1 gene.
There are some individuals with emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. and an MZ genotype who have been prescribed augmentation therapy by their physician. In most cases, the insurance company had turned these prescriptions down and said it would not pay for this therapy. Some of these patients have paid for the therapy out of their own pockets. There has been no scientific study that has evaluated whether these patients do better once this augmentation therapy has started.
Probably the best advice for an individual with the MZ genotype and emphysema is to make sure that they keep the alpha-1 antitrypsin as "healthy" as possible. We know that environmental exposures such as cigarette smoking, secondhand smoke, dust, organic fumes, and infections can impair the function of alpha-1 antitrypsin and some of these agents can also recruit damaging white blood cells into the lungs. By avoiding these agents, we can allow the alpha-1 antitrypsin that is present to perform its function as the major protector of normal lung tissue.
Ask the Alpha Doc: MZs and Augmentation Therapy - Written by Dr. Robert A. Sandhaus, MD, PhD, FCCP, AlphaNet Medical Director - AlphaNet
The use of IV augmentation therapy with plasma-derived α1-antitrypsin (AATalpha-1 antitrypsin) has become the standard of care for the treatment of pulmonaryMedical term referring to the lungs. disease associated with the severe genetic deficiency of AATalpha-1 antitrypsin. The Medical and Scientific Advisory Committee of the Alpha-1 Foundation has become aware that physicians are prescribing this expensive blood product for the treatment of individuals with a single abnormal AATalpha-1 antitrypsin gene, primarily the PI*MZ genotype. We are aware of no evidence that such therapy is effective in this patient population. The most important therapeutic interventions in such patients remain smoking cessation and elimination of other risk factors for lung disease. This commentary discusses the treatment of AATalpha-1 antitrypsin deficiency and the concerns regarding treatment of PI*MZ individuals. We conclude that clinicians should avoid prescribing augmentation therapy for this heterozygote population.
Chest Journal, October 2008, Volume 134, Issue 4, Pages 831–834
Robert A. Sandhaus, MD, PhD, FCCP, Gerard Turino, MD, James Stocks, MD, FCCP, Charlie Strange, MD, FCCP, Bruce C. Trapnell, MD, Edwin K. Silverman, MD, PhD, Sarah E. Everett, MEd, JD, James K. Stoller, MD, MS, FCCP, for the Medical and Scientific Advisory Committee of the Alpha-1 Foundation
Intravenous augmentation therapy is not recommended for: Individuals with the MZ genotype of AATD.
Clinical Practice Guidelines - The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult - Journal of the COPD Foundation