Alpha-1 antitrypsin deficiency (or Alpha-1 for short) is a rare, genetic condition. This means that you most likely inherited the genes that cause the condition from your parents. Alpha-1 can affect your lungs and liver. You may have trouble catching your breath or feel more tired than usual. These are some symptoms of Alpha-1. Sticking to your therapies and living a healthy lifestyle can help you manage your condition.
How Alpha-1 affects you
Your body works hard to keep you healthy. For example, when you get a lung infection or your lungs get irritated from things like smoking, pollution or chemicals, the body makes enzymes to kill the bacteria or get rid of damaged cells. In the case of Alpha-1, the enzyme is called neutrophil elastase. Neutrophil elastase is made in the liver and sent to the lungs when it is needed. After the elastase does its job, it should “turn off” so that it does not hurt healthy lung cells. It’s the job of Alpha-1 antitrypsin (AAT) to turn off the elastase.
With AAT deficiency, AAT gets trapped in the liver and can’t get to the lungs. When there is not enough AAT to get to the lungs, the elastase doesn’t get turned off and the lungs get damaged. When the lungs are affected, you may have trouble breathing, wheezing or a cough that doesn’t go away. If AAT builds up in the liver, some people will get liver disease. You may notice eyes and skin turning yellow, swelling in the stomach or feeling very tired.
Testing and monitoring
Your doctor may have run tests to help diagnose Alpha-1. Your family members may also get these tests done. That’s because they won’t always know they have the condition. Tests may be done especially if your family member has other conditions like:
- Lung diseases like emphysema or chronic obstructive pulmonary disease (COPD)
- Asthma (another type of lung disease) that does not get better with treatment
- Unexplained bronchiectasis (a chronic lung condition that causes you to cough up mucous)
- Unexplained liver disease
Your doctor may also run routine tests to check how you’re doing. These tests may include spirometry (a breathing test to find out how your lungs work) and an arterial blood gas (a blood test that measures how much oxygen is in your blood). Your doctor may also order blood tests to check your liver.
Sticking to your therapy
The good news is that many therapies are available to help you stay healthier. As of today, there is no cure for Alpha-1. You can manage your condition and improve your symptoms by staying on track with your therapies.
To help you feel and breathe better, your doctor may prescribe medications like as bronchodilators or inhaled steroids. These can help open your airways and help you breathe easier. Your doctor may also suggest pulmonary rehabilitation – a type of exercise program – to help improve your breathing.
Medications called augmentation therapies help replace the missing AAT in your blood and lungs. Augmentation therapies don’t cure Alpha-1, but they can slow down or stop the damage. This is a long-term treatment that’s given intravenously (into the vein) every week. With your doctor’s approval and some training, the therapy can often be given at home.
Healthier lifestyle
One of the best ways to protect your lungs is to stop and avoid smoking. Tobacco smoking irritates and damages the lungs by itself and speeds up the lung damage from AAT.
You can also follow these tips to stay as healthy as you can:
- Stay inside and keep your windows closed when the air quality is poor
- Wear a face mask when you dust, vacuum, shake rugs or sweep
- Stay away from dusty environments
- Wash your hands often to protect against germs
- Call your doctor as soon as you feel sick like you’re coming down with a cold or the flu
- Stay active and stick to your exercise plan
- Limit or avoid alcohol to protect your liver
- Keep up with your flu, pneumonia and other vaccines
- Get regular health check ups
- Join a support group
If you have any questions about your treatment or have concerns about side effects, talk to your doctor. Your Alpha-1 Advocate Team is also here for you. Call us at 1-877-602-6726 whenever you need us.
Disclaimers
This information is not a substitute for medical advice or treatment. Talk to your doctor or health care provider about your medical condition and prior to starting any new treatment. Coram assumes no liability whatsoever for the information provided or for any diagnosis or treatment made as a result.
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