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Cornerstone Health Solutions is dedicated to supporting you through your alpha-1 antitrypsin deficiency treatment. We are committed to helping you with financial assistance, providing you with thorough medication education, helping keep you on track, and being fully available to you to answer questions.

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency is a genetic disorder that may lead to lung and/or liver disease. The most common symptoms of lung disease are not specific to this disorder and will often be originally diagnosed as asthma or COPD:

  • Shortness of breath
  • Wheezing
  • Chronic cough/coughing up mucus
  • Recurring chest colds or pneumonia
  • Low tolerance for exercise
  • Year-round allergies
  • Difficulty clearing mucus due to lung damage (bronchiectasis)

The most common symptoms involving the liver include:

  • Unexplained liver disease/elevated liver enzymes
  • Skin and/or eyes turning yellow (Jaundice)
  • Swelling of abdomen or legs
  • Vomiting blood

It’s important to understand that some people with alpha-1 antitrypsin deficiency may not show any symptoms at all. The only way to diagnose this disorder is by a blood test that shows a low level of alpha-1 antitrypsin in your blood and abnormal liver function.

alpha-1 antitrypsin
Alpha-1 antitrypsin comparison

What causes alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency is caused by a defect in your alpha-1 antitrypsin genes. This defect causes your liver to produce abnormal alpha-1 antitrypsin proteins. Because these proteins are abnormal, your liver cannot release them into your blood. This causes a buildup of the abnormal protein in your liver, leading to liver disease, and a low level of the protein in your blood, leading to lung disease.

What specialty medications do you offer to treat alpha-1 antitrypsin deficiency?

  • Aralast
  • Glassia
  • Prolastin-C
  • Zemaira

What should I expect from treatment?

Most treatment for alpha-1 antitrypsin deficiency is focused on treating lung disease. Lung disease caused by this disorder can be treated with the same medications that others with lung disease typically use, like inhalers and steroids. The specialty medications that are offered to treat alpha-1 deficiency lung disease are added on to these therapies and work to increase the amount of alpha-1 antitrypsin protein in your body, which is protective to your lungs and can help slow the progression of lung damage. These medications are injected into your veins (IV) usually once a week. This means that you will need to go to an infusion center every week to receive your treatment. We can ship these medications directly to you, your provider, or the infusion center. The most common side effects that you may experience from these medications include headache, nausea, muscle pain, and infections. If these side effects become unmanageable or if you experience any other side effects, contact your provider.

To learn more about alpha-1 antitrypsin deficiency visit the following resources:

https://www.alpha1.org/

https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/

http://www.lung.org/lung-health-and-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/

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