Being diagnosed with a genetic disorder can be disconcerting, confusing, and overwhelming. On the one hand, you may feel somewhat relieved — under the circumstances — to have a name for the symptoms you’ve been experiencing. On the other hand, you have to learn an entirely new vocabulary as you learn about the condition and what treatment entails. Such is the case with alpha-1 antitrypsin deficiency. But what, exactly, does it entail? And how can enzyme replacement therapy help?
What is Alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin is a protein that’s made by the liver for the purpose of maintaining lung health. In some individuals, this protein is created misshapenly. As a result, they adhere to liver cells and fail to reach the lungs — leaving the person unprotected from inflammation and infections. This is known as alpha-1 antitrypsin deficiency (AAT deficiency), and it can affect patients of any age.
Symptoms of Alpha-1 Antitrypsin Deficiency
The symptoms of alpha-1 antitrypsin deficiency can range greatly from person to person. In fact, some individuals may experience no symptoms at all. However, those who do typically notice the following signs:
- Shortness of breath
- Excessive coughing
- Increased heart rate when standing up
- Chest pain that increases when taking deep breaths
- Chronic lung infections
- Vision problems
- Unintended weight loss
Enzyme Replacement Therapy for Alpha-1 Antitrypsin Deficiency
Traditional forms of treatment for alpha-1 antitrypsin deficiency include oral medications and oxygen therapy. For those for whom such treatments have failed, enzyme replacement therapy can provide a viable alternative.
Enzyme replacement therapy for alpha-1 antitrypsin deficiency involves using the alpha-1 antitrypsin protein from the plasma of healthy donors. This is then administered weekly through an intravenous (IV) infusion. This type of therapy is done alongside antibiotics, immunizations, and eliminating environmental factors (such as quitting smoking and avoiding secondhand smoke).
Enzyme replacement therapy is not a cure for Alpha-1 antitrypsin deficiency, nor can it restore lost lung function. However, it slows down the progression of lung damage, as well as protects the lungs from further inflammation.
Are there any side effects of enzyme replacement therapy for alpha-1 antitrypsin deficiency?
The infusion medication used to treat alpha-1 antitrypsin deficiency is Prolastin-C. As with any prescription medication, there’s a risk of side effects. These could vary from person to person, and may include:
- Pain at the site of injection
- Muscle aches
The best way to ensure your overall wellbeing during treatment is to have an experienced healthcare professional monitoring each infusion — which you will always have at Infusion Associates. This helps eliminate the risk of infections and other reactions to enzyme replacement therapy.
What to Expect from Enzyme Replacement Therapy for Alpha-1 Antitrypsin Deficiency
When you visit any of our Infusion Associates locations, you’ll immediately notice our welcoming environment. You will first meet with one of our healthcare professionals, who will walk you through the process of your treatment. This includes information about dosage, length of each infusion, and the likelihood of side effects. This is also a good opportunity for you to ask any questions you may have.
After the initial meeting, you will be escorted to one of our treatment rooms. If you would prefer, you can schedule your infusion in a private room. You can bring a loved one for company and/or support. You’ll receive each treatment in a cozy reclining chair, and we provide several amenities to make the experience as comfortable as possible — including blankets, coffee, water or tea, WiFi, and television. You can also bring your snacks of choice.