Simple Answers to Commonly Asked Questions About Alpha-1
December 11, 2017
11/28/17 Posted By: CSL Behring LLC
Simple Answers to Commonly Asked Questions About Alpha-1
For many with alpha1 antitrypsin deficiency, or Alpha-1, the journey to diagnosis often feels like a long, winding road. Finding answers isn’t always easy, but it can help to learn from the experiences of others. Here are some simple answers to questions patients often ask.
Q: What is Alpha-1?
A:Alpha-1 is the common name for the condition known as alpha1 antitrypsin (A1AT) deficiency—a hereditary and progressive condition that affects the lungs.Patients with Alpha-1 don’t produce enough of the protein A1AT. The primary function of this protein is to protect the lungs from an enzyme called neutrophil elastase. When you have Alpha-1, your lungs may be damaged over time, placing you at higher risk for developing lung diseases, such as emphysema and chronic obstructive pulmonary disorder (COPD).
Q: How does A1AT protect my lungs during an infection?
A: When bacteria or irritants invade the lungs, the body’s immune system releases an enzyme called neutrophil elastase to attack and destroy the invaders. When the battle is over, the liver releases the A1AT protein to travel to the lungs and shut down the body’s immune response. Because Alpha-1 patients don’t produce enough of the protein, the immune system continues attacking anything around it—including the lungs.
Q: Am I at risk?
A:Alpha-1 is hereditary, which means it can be passed on from parents to their children through DNA, or genes. People with Alpha-1 inherit 2 defective genes, one from each parent. People with 1 normal gene and 1 defective gene are called “carriers.” Carriers may not have the disease, but they can still pass the defective gene on to their children. Because Alpha-1 is a hereditary and progressive disease, early testing and diagnosis can help you and possibly your loved ones get appropriate treatment that may potentially help decrease the progression of lung disease.
Q: What are the symptoms of Alpha-1?
A:People with Alpha-1 may have clinical symptoms like wheezing, a cough that won’t go away, or trouble breathing. People with other lung conditions, such as COPD, emphysema, and asthma, often have these same clinical symptoms. Because the physical symptoms of Alpha-1 may resemble the symptoms of other serious lung diseases, it may be difficult for your doctor to diagnose. In fact, over 90% of patients living with Alpha-1 have not been accurately diagnosed.1
Q: Is it COPD or Alpha-1?
A: It is not possible to know if COPD was caused by Alpha-1 based on symptoms because the symptoms are similar regardless of the cause. That is why multiple clinical practice guidelines recommend all patients with COPD be screened for Alpha-1 with a blood test.2,3
Q: Can Alpha-1 cause COPD even if I’ve never smoked?
A: Yes. Having Alpha-1 puts someone at higher risk for COPD even if they don’t smoke. That said, stopping smoking now will lessen the risk of getting COPD, whether you have Alpha-1 or not.
Q: How do I get tested for Alpha-1?
A: You and your doctor should talk about your risk for Alpha-1. If you have COPD, emphysema, irreversible asthma, unexplained liver disease, a skin disorder called necrotizing panniculitis, or a family history of Alpha-1, you should be tested.While there are many tests and observations that your doctor can perform to identify the physical symptoms of lung disease, an accurate diagnosis can only be achieved by taking a blood test. Talk to your doctor about free testing. Because Alpha-1 is hereditary, testing for Alpha-1 is recommended for parents, children, siblings, and extended family of anyone who has been diagnosed with Alpha-1.
Q: I’ve got Alpha-1. Now what?
A:Finding out that you have Alpha-1 will help your doctor recommend the appropriate treatment and changes to your lifestyle. Without treatment, Alpha-1 can get worse over time and can also cause other serious lung diseases such as COPD and emphysema. In some cases, Alpha-1 can also cause liver disease. Your doctormay recommend augmentation (replacement) therapy to replace the protein that you are missing and raise A1AT protein levels in the blood. Augmentation therapy is recommended in clinical practice guidelines for individuals with Alpha-1 who show signs of reduced lung function. While it is not a cure for Alpha-1, augmentation therapy has been proven to raise the levels of the protein A1AT, which your body needs to maintain good lung health.
Q: Where can I find support?
A:If you’ve been recently diagnosed with Alpha-1, you may want to connect with other Alphas who truly understand what you are going through. AlphaNet is a network of Alpha-1 patients who share nonmedical advice about living with Alpha-1 with ongoing peer-to-peer engagement for understanding and emotional support that only other Alphas can provide.
You can also look to the Alpha-1 Foundation, a nonprofit organization promoting research and development of new treatments to improve the lives of those living with Alpha-1.
With a better understanding of Alpha-1, it’s important to talk to you doctor about your personal risk factors, symptoms you may be experiencing, and family testing for Alpha-1. Only then can you and your doctor work together to find appropriate treatment that can help you improve your lung health.
1. Petrache I, Hajjar J, Campos M. Safety and efficacy of alpha-1- antitrypsin augmentation therapy in the treatment of patients with alpha-1- antitrypsin deficiency. Biologics. 2009;3:193-204. 2. Alpha-1 Foundation website. What is Alpha-1? http://alpha-1foundation.org/what- is- alpha-1. Accessed April 21, 2017. 3. National Heart, Lung, and Blood Institute (NHLBI) website. What is Alpha-1 Antitrypsin Deficiency? https://www.nhlbi.nih.gov/health/health-topics/topics/aat. Accessed September 25, 2017. 4. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186. 5. Silverman EK, Sandhaus RA. Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749-2757 6. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016;3(3):In press.