Simple Answers to Commonly Asked Questions About Alpha-1

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 doctor may 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.

Read more here.

References:

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.

    Why Family Testing Is Important in Alpha1 Antitrypsin Deficiency

    11/27/17 Posted By: CSL Behring LLC

    Why Family Testing Is Important in Alpha1 Antitrypsin Deficiency

    Alpha1 antitrypsin (A1AT) deficiency, commonly known as Alpha-1, is a progressive condition affecting the lungs. Because the physical symptoms of Alpha-1 resemble those of other serious lung diseases, it is often missed or misdiagnosed. Alpha-1 can have significant consequences, as it is often the root cause of other serious lung diseases.

    Alpha-1 is hereditary, which means it can be passed on from parents to their children through DNA, or genes. People who have Alpha-1 have inherited 2 deficient genes, 1 from each parent. People with 1 normal gene and 1 defective gene are called “carriers.” Carriers may pass the defective gene on to their children.

    According to the Alpha-1 Foundation, there may be as many as 19 million carriers of Alpha-1 in the United States. Because carriers typically don’t have symptoms, they are usually not aware they carry the defective gene. 

     To help explain the genetics of Alpha-1, let’s look at a hypothetical family in which both parents are carriers: Mom is an MZ and Dad is an MS.1

     

    Each child born to this couple has the same chance to inherit 2 normal genes (MM), 1 normal and 1 defective gene (MS or MZ), or 2 defective genes (SZ). Let’s see what each of these gene combinations means in terms of the genetic and health status of each child.1

    MM (Normal) ­­means that the child does not have the disorder and does not carry any abnormal A1AT genes.1

    MZ (Carrier) results in mild to moderate A1AT deficiency, meaning that the child may get disease symptoms and carries an abnormal A1AT gene. For a child with the MS (Carrier) combination, it is unclear whether there is a risk for getting disease symptoms, but the child does carry an abnormal A1AT gene. However, most studies do not show an increased risk for disease.1

    SZ (Alpha-1) means the child has moderate to severe (SZ) Alpha-1 deficiency. The child could get the disease and carries 2 abnormal A1AT genes.1

    In some cases, there may be other variants.1

    Due to an increased understanding of the hereditary nature of Alpha-1, the Alpha-1 Foundation now recommends testing for parents, children, siblings, and extended family of anyone diagnosed with Alpha-1 or identified with an abnormal gene for Alpha-1. Talk to your doctor about your unique risk and testing for Alpha-1.

    Read more here.

    References:
    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.

      What Is Alpha1 Antitrypsin and Why Do We Need It?

      11/27/17 - Posted By: CSL Behring LLC

      What Is Alpha1 Antitrypsin and Why Do We Need It?

      If you’ve heard the term “alpha1 antitrypsin” (or “A1AT”), you may already know that it’s a protein that your body makes in your liver. But what does it actually do, and why do we need it?

      Although A1AT is made in the liver, its main job is to keep certain enzymes—particularly neutrophil elastase—from damaging fragile lung tissue. Neutrophil elastase is released when bacteria or irritants, such as tobacco smoke, invade the lungs. Although neutrophil elastase destroys the bacteria and irritants, it can continue to attack anything around it, including healthy lung tissue. The job of A1AT is to bind neutrophil elastase and prevent it from damaging healthy lung tissue.

      How A1AT Works in Your Body

       

      The main function of A1AT is to protect the lungs from neutrophil elastase.

      Some people have a condition known as A1AT deficiency, which occurs because their body cannot make enough of the A1AT protein. Without sufficient levels of the A1AT protein to protect the lungs following an infection, the body’s immune system will attack healthy tissue causing lung damage and, eventually, emphysema.

      Alpha-1 is a progressive disease, which means that it can worsen over time and cause more damage to your lung function if left undiagnosed and untreated. Getting tested for Alpha-1 is the first step toward better understanding your lung disease and overall health and receiving appropriate treatment.

      Doctors often recommend augmentation (replacement) therapy to replace the missing A1AT protein. While it is not a cure for Alpha-1, augmentation therapy has been proven to raise the levels of A1AT protein, which your body needs to maintain good lung health.

      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 talk to your doctor about testing for Alpha-1.

      Read more here.

      Reference:
      1. Alpha-1 Foundation website. What is Alpha-1? http://alpha-1foundation.org/what- is-
      alpha-1. Accessed April 21, 2017.

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