A: Alpha-1 Antitrypsin Deficiency, or Alpha-1, is an inherited genetic condition which predisposes you to the development of certain diseases. Most commonly these are lung disease and liver disease. Many persons diagnosed with Alpha-1, however, never develop any disease associated with Alpha-1. Individuals with Alpha-1 have lower than normal levels of a protein in the blood called alpha-1 antitrypsin or AAT.

A: There are three types of simple laboratory tests for Alpha-1. First, you can test for the amount of AAT protein in the blood. This is often called a blood level of AAT. Second, you can evaluate the AAT protein in the blood for its chemical characteristics since deficient AAT protein is different than normal. This is called Pi-typing or phenotyping. Finally, you can look at the AAT genes and test them for common abnormalities. This is called genotyping. It is often helpful to do two or even all of these tests in order to be sure of an Alpha-1 diagnosis.

A: The normal range of AAT in the blood can be as high as 400 mg/dL or 4 grams in each quart of blood. The level can be measured using one of a variety of techniques but, most commonly, antibodies against AAT are used to quantify the amount of AAT in the serum. The results are expressed either in mg/dL (milligrams per 100 cc of blood) or in μM (micromoles). Local labs tend to use the mg/dL units and the normal range tends to vary from lab to lab, with the low end of the normal range varying from 70 to 200 mg/dL. In general, individuals with severe Alpha-1 deficiencies tend to have an AAT level of less than 50 mg/dL. The national testing laboratories use the μM system, and the low end of the normal range is approximately 28 μM in this system. Individuals with a level less than 11 μM are considered to have severe deficiency of AAT. Most low levels need to be confirmed by Pi-typing or genotyping.

A: It usually is not necessary to have more than one AAT level checked during an Alpha’s lifetime, just as it usually is not necessary to have an Alpha’s phenotype or genotype checked more than once in a lifetime. Having said this, however, there are some exceptions that should be noted. When the initial diagnosis is made, it is reasonable to recheck it, preferably at a reference laboratory with experience in testing for Alpha-1.

A: Augmentation therapy products are made from plasma donated through plasma donation centers. These centers are run by several companies. Plasma donation is distinct from blood donation. People can donate plasma very frequently (as often as every week), and plasma can be frozen and stored for many months. To ensure plasma safety, plasma centers routinely test a potential donor for HIV/AIDS, hepatitis, etc., then take the plasma donations and freeze them. Two to six months later, they retest the donor for the various viruses and, if all the testing is negative, they release the plasma that was collected 2-6 months before. If the donor doesn’t return for the repeat testing, the plasma is discarded.

A: Augmentation therapy infusions are intended to increase or augment the amount of alpha-1 antitrypsin (AAT) available in the blood of individuals with Alpha-1-related lung disease. Some individuals report that they notice improvements in their health when on augmentation therapy, and there is some evidence for a decrease in the number of lung infections in individuals receiving augmentation therapy. Yet the primary aim of this therapy is to reduce the rate of decline of lung function and, therefore, improve the long-term quality of life and even the lifespan of individuals with Alpha-1.

A: The best method for fighting viral and bacterial infections is prevention. Avoid crowds, young children and known infected individuals. Wash your hands frequently. Get flu shots and Pneumovax as recommended. Ask your health care provider to
consider immunization against Hemophilus influenzae, hepatitis B and hepatitis A. The best method for treating a known bacterial infection is to give an appropriate antibiotic at the earliest possible time. No one antibiotic is necessarily better or stronger than another; rather, particular bacteria may be more sensitive and better killed by one or more antibiotics than by others.

A: Individuals who have decreased oxygen levels in their blood for a significant period out of each day should be using supplemental oxygen. In addition, individuals whose oxygen is normal most of the time but have severe decreases in oxygen for short periods of time, should be on oxygen during those times of low oxygen. The actual levels of oxygen in the blood that should prompt the use of oxygen depend on the individual’s underlying conditions. Individuals with heart disease or disease of the blood vessels in the arms, legs, brain, or other important organs may need more oxygen therapy to treat milder decreases in oxygen than individuals without these conditions.

A: The long-term side effects of steroid use are quite variable and can be severe. When taken for prolonged periods, they can turn off steroid production by the adrenal glands and/or turn off the signal to make steroids by the pituitary gland, and can cause increased appetite, weight gain, deposition of fat in specific locations (widow’s hump, moon faces), loss of calcium from bone, accentuation or appearance of diabetes, cataracts, accentuation or appearance of high blood pressure, avascular necrosis of bone (death of bone due to loss of blood supply), increased susceptibility to infection, appearance of infection caused by organisms that normally don’t lead to infection (opportunistic infection), activation of dormant infections (such as TB), development of so-called steroid psychosis, steroid myopathy (loss of muscle tissue and muscle strength), ulcers of the stomach and duodenum, poor wound healing, low potassium, bruising, thinning of skin, changes in menstrual cycle, acne, hair growth, anxiety, and insomnia. Doctors avoid prescribing steroids unless necessary because WHEN USED LONG-TERM steroid therapy has so many possible consequences. However, for many people with lung disease steroid medication is quite helpful and when needed should not be overly feared.

A: When stopping steroids after long-term use, the steroid dose must be reduced gradually over a long time period. Once steroids have been stopped in this way, the adrenal glands are able to start making normal levels of steroid (the body needs steroids to maintain function), but they may not be able to boost natural steroid production during times of stress or injury. This can lead to severe medical problems, including shock. This impairment of adrenal reserve can last for up to a year after stopping chronic steroids. It is important to tell any physician caring for you that you are on chronic steroids or have recently been weaned off chronic steroids so that, in an emergency, supplemental steroids can be administered.

A: The risks regarding flying relate to rapid pressure changes in the outside environment compared with the lungs. In general, any increased risk that an Alpha might have in this regard would be related to the potential presence of bullae or blebs near the surface of the lung. If there are no blebs, and the Alpha’s lung function is normal or only mildly to moderately impaired, there should be no problem.

A: AlphaNet is an innovative not-for-profit health management company dedicated to improving the lives of persons with Alpha-1 Antitrypsin Deficiency (Alpha-1). It was founded by Alphas to serve Alphas. We are “Alphas Serving Alphas.”

A: An AlphaNet Coordinator is your personal AlphaNet staff member. Each AlphaNet Coordinator is a person with Alpha-1 employed by AlphaNet to serve you.

A: AlphaNet employs regional AlphaNet Coordinators who are assigned to a specific geographical region of the country. You will be assigned to the Coordinator who covers the area in which you live at the time that AlphaNet receives a request to provide service.

A: Your Coordinator will contact you by phone a minimum of once a month. They will assist you with issues related to your augmentation therapy, such as ordering infusion supplies, sorting through insurance issues, and helping to coordinate services provided by pharmacies, drug manufacturers, infusion centers and/or home health agencies. They will inform you of opportunities to participate in research activities, educational conferences, support groups and other activities within the Alpha-1 community. Your Coordinator will help you educate yourself about Alpha-1 by utilizing AlphaNet’s comprehensive patient guide to Alpha-1 called The Big Fat Reference Guide. Perhaps most importantly, because your Coordinator is also an Alpha, he or she will understand and will be there to offer support and understanding, or to just listen.

A: Yes. Prolastin Direct is a program for the distribution of Prolastin® to patients with Alpha-1-related lung disease. It is comprised of three separate and distinct companies each serving different functions. First is Talecris Biotherapeutics, the manufacturer of Prolastin® and the overall sponsor of the Prolastin Direct program. Unlike other medications, once Prolastin® is manufactured, it is shipped directly to you through a specialty pharmacy, Centric Health Resources. Centric Health Resources processes your prescription, gets authorization from your insurance company, arranges infusion services, if required, and then ships Prolastin® to you or your infusion agency. With your consent, AlphaNet provides health management services by assigning an AlphaNet Coordinator who works directly with you to coordinate the services of the other two companies, as well as provide you with many other important services.

A: Yes, you can. CSL Behring is the manufacturer of Zemaira®. CSL has an agreement with AlphaNet to provide health management services to Alphas on Zemaira® who agree to receive such services. When a Zemaira® patient consents to receive AlphaNet support, AlphaNet is notified and an AlphaNet Coordinator dedicated to serving Alphas on Zemaira® is assigned to that person.

A: All you need to do to receive the services of AlphaNet is to sign and return the consent form granting permission to provide AlphaNet your contact information. Because of their commitment to the Alpha community, Talecris Biotherapeutics, the manufacturer of Prolastin®, and CSL Behring, the manufacturer of Zemaira®, have contracted with AlphaNet, to provide you with our services. Once you have signed your consent to be followed by AlphaNet, you are automatically assigned to the appropriate Coordinator. Within a short period of time, that Coordinator will call you to introduce himself or herself and welcome you to AlphaNet.

A: No. Thanks to the commitment of Talecris Biotherapeutics and CSL Behring, neither you nor your insurance company pay for AlphaNet services.

A: AlphaNet and the Alpha-1 Foundation were founded by the same three individuals with Alpha-1. Both entities are not-for-profit organizations dedicated to serving the Alpha-1 community. The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection and a cure for Alpha-1 Antitrypsin Deficiency (Alpha-1). AlphaNet was established to provide health maintenance and support services to the Alpha-1 community. AlphaNet realizes revenue through the provision of health management services, clinical research management activities and other specialized services. AlphaNet donates funds to the Alpha-1 Foundation and other organizations. AlphaNet is the largest contributor to the Foundation and has donated over $27 million dollars since its founding.

A: The Alpha-1 Association is a member-based not-for-profit organization founded in 1991 to identify those affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improve the quality of their lives through support, education, advocacy and research. AlphaNet supports the activities of the Alpha-1 Association by providing educational grants, support services and speakers for its many programs around the country. AlphaNet has donated more than $1.7 Million to the Association.