FAQs
Frequently Asked Questions about Alpha-1 Antitrypsin Deficiency
What is Alpha-1?
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.
What are the tests for Alpha-1?
There are two types of simple laboratory blood tests for Alpha-1. These are blood level testing and Pityping. Pi-typing is done by two methods. Phenotyping looks at the AAT (alpha-1 antitrypsin) protein circulating in the blood, while genotyping looks at the AAT inside the gene.
When is the blood test considered normal/abnormal?
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 genotyping or phenotyping. Phenotyping examines the type of AAT protein floating in the blood and evaluates whether it is normal or abnormal. Genotyping looks at the DNA code for AAT in our cells to see whether that code would produce a normal AAT protein or an abnormal one.
How often should AAT levels in the blood get checked?
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.
Where does the alpha-1 antitrypsin come from that goes into making augmentation therapy products?
Augmentation therapy products are made from plasma donated through plasma donation centers 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. This is very important for plasma safety as 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.
What is the primary purpose of augmentation therapy?
Augmentation therapy infusions are intended to increase or augment the amount of alpha-1 antitrypsin (AAT) available in the blood to bathe the tissues of the body in 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.
What are the best methods for fighting viral infections? What about bacterial infections?
The best method for fighting viral and bacterial infections is prevention against their occurrence. 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.
At what point should a person consider supplemental oxygen?
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.
What are the side effects of long-term steroid use?
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, acute aseptic 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.
Can I stop my long-term steroids at any time?
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.
What are the risks of flying if I have Alpha-1 lung disease?
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.