Alpha-1 Lung Disease Questions & Answers
For family testing, genotype or phenotype is better than just testing levels
Q: My father recently was diagnosed as a carrier of Alpha-1 and his doctor recommended my sister and I be tested. We had the test and my level was 104 and hers was 107. The normal range provided on the test was 90-200.
Should we consider having any additional testing done? Or are the levels considered normal and no further testing needed?
A: For family testing, where the goal is to discover whether siblings or offspring might be carrying one or two genes for Alpha-1 Antitrypsin Deficiency, we usually recommend checking a genotype or phenotype, rather than just a level.
The alpha-1 antitrypsin levels that you and your sister were given could mean that you have either two normal genes for Alpha-1 or one abnormal gene and one normal one.
Why would you want to know if you have a single abnormal gene?
Because there is a slightly increased risk of developing lung or liver disease even with one abnormal gene. Perhaps of greater importance, if you have children or are planning on having children, you may want to know so you will be able to determine the probability of passing an abnormal gene on to them.
For more information, see our web page on testing or call the Alpha-1 Research Registry Program at the Medical University of South Carolina toll-free at 1-877-886-2383.
Alpha-1 “carrier” has early-onset emphysema
Q: I am a 40 year old female smoker, just diagnosed with mild emphysema. I am quitting smoking, of course! I asked my docs to test for Alpha-1. They reluctantly agreed.
My dad has pulmonary fibrosis. I also have a new intolerance to alcohol. It seems to make me quite sick now. Although I am not a drinker, I would like the occasional drink! I already have multiple health issues, autonomic dysfunction and coagulation abnormalities, and I am currently being tested for autoimmune illnesses. So, it will take a while before this gets sorted out.
The Alpha1 test results just came and I am a carrier—which I thought meant I was healthy. The Alpha-1 level is 26.8mm, phenotype is PiMZ, genotype was not performed. So, if I am just a carrier, why do I already have emphysema and could this be related to the alcohol intolerance?
What exactly does it mean to be a carrier? My doctor wrote that I am a carrier but my blood level is normal. Then why do I have these problems? And do I need treatment? And should I have my liver investigated further?
A: It sounds like you’ve had an extensive workup at an academic center. Unfortunately, it also sounds like you are suffering from the conditions you’ve been diagnosed with. You were certainly correct to request the Alpha-1 testing.
The results present three possibilities.
The first, and the one that needs to be evaluated first, is that the results are incorrect. With coagulation abnormalities and the MZ results, it is important to be sure the result is correct. There is a rare Alpha-1 abnormality, the Mpittsburgh phenotype, that leads to a normal level with coagulation problems. It can sometimes be confused with the M phenotype. If you were PiMpittsburghZ, this is a severely deficient phenotype and should be treated.
It might be wise to send a blood sample to a national reference laboratory such as the Alpha-1 Detection Lab at the University of Florida, with a note about the possible results.
The second possibility is that the results are correct (PiMZ) and that the combination of this mild deficiency and your smoking has led to your early-onset emphysema. People with an MZ phenotype have been shown to have about a 2.3 times increased risk of getting emphysema if they smoke, compared with the general population of smokers. In this case, smoking cessation and avoiding environmental risk factors is the treatment of choice.
The third possibility is the PiMZ phenotype is correct and it has absolutely nothing to do with your early-onset emphysema. There are some people with entirely normal Alpha-1 genes who get early-onset emphysema. We assume that there are other genes involved that have yet to be identified in these people.
Some ZZ Alphas can keep normal lung function, stay disease-free
Q: Does Alpha-1 (PIZZ type) always hurt the lungs?
If you’re healthy, exercise, don’t smoke, etc., are the lungs still being damaged regardless? In other words, is there any way to NOT lose lung function?
A: Under most circumstances, people with PIZZ Alpha-1 have plenty of circulating alpha-1 antitrypsin to protect the lungs and they are not being damaged.
Lung damage seems to occur only during times when the alpha-1 antitrypsin protein is harmed (as from smoking or other environmental exposures) or when the alpha-1 antitrypsin protein protection of the lungs is overwhelmed by a large number of white blood cells coming into the lungs (such as during pneumonia and other lung infections).
Therefore it is certainly possible for the lung to remain healthy and not lose lung function, even in PIZZ individuals. And we see this every day, because there are many adults with PIZZ who have no lung disease late into their lives.
Singulair, Tylenol are OK for Alpha-1 kids
Q: My daughter has Alpha-1 and was diagnosed with asthma when she was three. Her pediatrician put her on Singulair as a preventative. Is Singulair safe for children that have Alpha-1? I am worried about its long-term effects. Also, I have always heard that Tylenol is unsafe for Alpha-1 children. Is this true?
A: There are no known problems with Singulair in Alpha-1 kids. Tylenol is OK when taken as directed. Make sure that the recommended dose is not exceeded. There are much worse risks in children from using aspirin than Tylenol, even in Alpha-1 kids.
Lung, liver symptoms call for Alpha-1 testing
Q: I am 51 years old, a female and have been diagnosed with COPD about five years ago. I found this to be extremely odd as I have NEVER smoked in my life. However, I was raised in a home where both parents were chain smokers.
For the past two years I have had elevated liver enzymes, with no explanation. I felt intuitively that the two were somehow connected.
I do not drink alcohol and have never used illegal drugs. Except for the asthma/COPD and some osteoporosis, I am currently OK. My question is, how do I bring this up to my doctor and am I better off seeing an allergy/asthma specialist that I met a while ago? Any guidance would be greatly appreciated.
A: All diagnosed Alphas should consider seeing a pulmonary or allergy specialist with experience in Alpha-1.
But first, you should be tested for Alpha-1. You can ask your current doctor to order an Alpha-1 blood test, based on your symptoms, all of them good reasons to be tested. If for any reason your doctor is reluctant to do the testing, you can see the asthma/allergy specialist you mentioned.
You can also get free and confidential testing by a finger stick done in your home through the Foundation’s Coded Testing Study. For information, see our web page on testing or call the Alpha-1 Research Registry Program at the Medical University of South Carolina toll-free at 1-877-886-2383.
What’s the best way to rinse after using an inhaler?
Q: Should I rinse my mouth after using an inhaler? What’s better, plain water or gargling with a mouthwash?
A: Many side effects caused by using an inhaler or nebulizer can be greatly reduced by rinsing your mouth after using them. This is especially true for inhaled or nebulized steroids (Advair is one common example).
The goal of rinsing your mouth is to get rid of any medication that didn’t make it into your lungs and is still sitting in your mouth and throat. Swishing and spitting, or gargling and spitting, are the recommended methods. It’s okay to use water, but some have suggested that an alcohol-containing mouthwash is more effective. You can also brush your teeth and rinse, immediately after using an inhaler or nebulizer.
A spacer is another way to reduce the amount of medication landing in your mouth, though spacers are not needed with dry powder inhalers such as Spiriva and Advair.
Finally, if you are using a steroid inhaler and develop pain with swallowing, accompanied by white and red patches in your throat, this could be a sign of a fungal infection called thrush. If this doesn’t go away with more vigorous rinsing, it’s best to consult your doctor because more specific therapy might be needed.
The purpose of augmentation therapy
Q: What is the primary purpose of augmentation therapy? What results can people expect if they are taking augmentation therapy? Do these expectations change depending on the severity of the underlying lung disease?
A: Augmentation therapy infusions are intended to augment (add to) the amount of alpha-1 antitrypsin protein (AAT) floating in the blood and bathing the tissues of the body in people with lung disease related to Alpha-1 Antitrypsin Deficiency. Although some people 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, the primary aim of this therapy is to reduce the rate of decline of lung function towards normal and, therefore, improve the long-term quality of life and even the lifespan of those with lung disease due to Alpha-1.
Everyone loses lung function during their adult life, whether they have Alpha 1 or not. Alphas with lung disease lose their lung function at a more rapid rate than normal. If augmentation therapy is effective, it will be expected to slow this increased rate of decline, regardless of the severity of the underlying lung disease.
How often should AAT blood levels be checked?
Q: How often should AAT levels in the blood be checked?
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. However, there are some exceptions. When the initial diagnosis is made, it is reasonable to recheck and confirm it, preferably at a reference laboratory with experience in testing for Alpha-1.
Some people with unusual phenotypes and evidence of lung disease may have their levels rechecked to evaluate whether their baseline level is low enough to cause concern. It is not recommended that levels be checked following institution of augmentation therapy. It is also important to know that phenotype tests will be inaccurate in those receiving augmentation therapy. Physicians should not make changes from the recommended dosing of augmentation therapy based on blood levels of AAT.
Why Alpha docs test for IgA deficiency
Q: What is the deal about augmentation therapy and IgA deficiency?
A: IgA is one of the most common hereditary immune deficiencies. IgA deficiency, like Alpha-1, can be associated with lung and allergic-type symptoms. People with either of these conditions (IgA deficiency or Alpha-1) can lead normal, healthy lives without ever knowing they have one of these conditions.
Those with Alpha-1 who are about to start augmentation therapy should be tested for IgA deficiency, because giving repeated infusions of a plasma-derived product can lead to severe allergic reactions in IgA deficient individuals. This is due to the small amount of IgA protein contained in each vial of augmentation therapy. Anyone with hereditary IgA deficiency has circulating antibodies to the IgA molecule and these antibodies can cause an allergic reaction when even small amounts of IgA protein are delivered intravenously.
Since augmentation therapy is only given to patients with lung disease due to Alpha-1, it is hard to know whether those with IgA deficiency have worse lung problems than those without. It is logical to assume they would. Both Alpha-1 and IgA deficiency, when they cause problems, can lead to recurrent lung infections and bronchiectasis and there may well be some additive effects of having both.
Asthma medicine can also help Alphas
Q: Why do Alphas with lung disease take asthma medicines?
A: Many people with emphysema, especially Alphas, have asthma as well. One study indicates that over 70 percent of Alphas with lung disease have asthma at some time during their lives.
Asthma is defined as obstruction to the outflow (exhalation) of air from the lungs that can be reversed with medication. The obstruction caused by emphysema itself (thought to be due to loss of the connective tissue that holds the airways open during exhalation) is generally fixed and permanent. Obstruction that can be reversed by bronchodilators, steroids, theophylline, etc., is by definition, asthma. Asthma is generally thought to be due to spasm of the muscles of the bronchial tubes (bronchospasm), inflammation of the airways with swelling, and increased mucus production blocking the airways.
If you have lung disease from Alpha-1, you can think of emphysema as the component causing the slow, steady decline in lung function that can’t be reversed (with current technology) and asthma as the part that gives you the daily, weekly, or monthly ups and downs in your breathing.
Augmentation therapy is designed to slow down the emphysema-related decline. The inhalers and pills (and emergency room IVs) that people take are designed to reverse the asthmatic side. Of even greater importance, long-acting bronchodilators and inhaled steroids have been shown to reduce the number and severity of flares of lung disease, also called exacerbations, in patients with emphysema.
Prevention is the best defense against infections
Q: What are the best methods for fighting viral infections? What about bacterial infections?
A: The best method for fighting viral and bacterial infections is prevention. Avoid crowds, young children, and known infected individuals. Practice frequent hand washing. Get flu shots and Pneumovax. Consider immunization against Hemophilus influenzae, hepatitis B, and hepatitis A.
Once a viral infection sets in, there is often little that can be done, unless the virus-causing disease is one of the few that have a specific therapy. Most treatments for viral infections are symptomatic – designed to make you feel better while the body fights the virus on its own.
In Alphas who develop a viral respiratory tract infection, it is often recommended they start immediately on an antibiotic. Classic antibiotics do nothing to treat the virus, rather they are used to prevent or treat the possibility that a bacterial infection will develop in the airways already injured by the viral infection.
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, a particular bacteria may be more sensitive and better killed by certain antibiotics than by others. The simplest antibiotic, for instance penicillin, can be just as effective as the newest and most expensive antibiotic if the organism causing the infection is sensitive to it.
The problem is, one often doesn’t know what bacteria is causing a particular infection and one often doesn’t know what antibiotic it might be sensitive to. Antibiotic resistance tends to be different in different geographic areas, so it’s important to let your physician recommend the antibiotic that seems to have the best effect at the current time in your area.
Exacerbations: Hit them hard and early
Q: What is the best philosophy for fighting exacerbations?
A: The best philosophy for fighting exacerbations is to hit them hard and early. Know your own disease; know how your lungs react during an exacerbation. Start early with increasing your usual medications, perhaps starting steroids and/or antibiotics, etc., in consultation with your own physician.
Why are stairs such a challenge for Alphas?
Q: Why are stairs so difficult for Alphas to walk up?
A: Stairs represent one of the hardest challenges for those with obstructive lung disease. They are everywhere; they require that the large muscles of the legs lift the entire body weight with each step; and they represent a measurable amount of activity. For example, you may recall that six months ago you could reach the top of the stairs without stopping, then have to rest and catch your breath, while now you find that you have to stop and rest two steps from the top. It may not appear that walking up 12 steps represents much greater effort than walking 12 steps on the level, but it does.
