Alpha-1 Antitrypsin Deficiency
Overview
What is alpha-1 antitrypsin deficiency?
If you are diagnosed with alpha-1, it means your blood and lungs have low levels (a deficiency) of a protein called alpha-1 antitrypsin (AAT). You need AAT to have healthy lungs; a deficiency can lead to lung and/or liver disease.
Alpha-1 is widely under-diagnosed. Of the 100,000 individuals in the United States estimated to have this condition, only about 10 percent have been identified. Many times, the symptoms are misdiagnosed as chronic obstructive pulmonary disease (COPD) or even asthma.1
Some experts estimate as many between 65,000 and 110,000 people (1 in 3,000 – 5,000) in the United States have alpha-1. As many as 85% are undiagnosed. Alpha-1 is found in all ethnic groups, but it is most common in Caucasians of Northern European ancestry.
Questions regarding your alpha-1 antitrypsin deficiency therapy?
You can reach your Accredo alpha-1 antitrypsin deficiency team, anytime, day or night, seven days a week by phone or online.
24-hour Customer Service Center
1. https://seer.cancer.gov/statfacts/html/livibd.html
Symptoms
What are the symptoms of alpha-1 antitrypsin deficiency?
You might see signs of alpha-1 in your lung or liver functions or, in rare cases, your skin. Unfortunately, alpha-1 often is not discovered until there has been significant tissue damage, or until a patient has been diagnosed with emphysema, chronic obstructive pulmonary disease or treatment-resistant asthma. This is why testing is so important. Some of the most common signs of alpha-1 include, but are not limited to, the following list of symptoms.
Liver
- Abdominal swelling and/or leg swelling
- Dark urine
- Intense itching
- Jaundice (yellowing) of the eyes and skin
- Pain or tenderness in the upper right abdomen
- Unexplained liver problems and/or elevated liver enzymes
- Hardened skin with painful patches or lumps (panniculitis)
Lung
- Cough with or without mucus
- Decreased exercise tolerance
- Increased supplemental oxygen needs
- Nonresponsive asthma or year-round allergies
- Recurring respiratory infections or chest colds
- Shortness of breath
- Wheezing
Skin
- Hardened skin with painful patches or lumps (panniculitis)Hardened
How is it diagnosed?
Alpha-1 can be detected by a simple test that determines the level of AAT in the blood.
The American Thoracic Society and European Respiratory Society both recommend alpha-1 testing for people who have been diagnosed with any of the following:
- Chronic obstructive pulmonary disease
- Emphysema (diagnosed at age 45 or earlier)
- Liver disease with no known cause
- Bronchiectasis (in adults)
- Asthma that does not respond to traditional treatment
- Unexplained panniculitis (skin disorder) and Wegener’s granulomatosis
- Family history of Alpha-1, emphysema, bronchiectasis, liver disease, or panniculitis
- Difficulty breathing and persistent cough among family members (same or multiple generations)
- Testing should also be done for family members of individuals with Alpha-1
Medications
Alpha-1 Antitrypsin Deficiency
The following specialty medications are available at Accredo, your specialty pharmacy, for the treatment of alpha-1 antitrypsin deficiency.
| Drug | Manufacturer |
|---|---|
| Aralast NP® (alpha1-proteinase inhibitor [human]) | Takeda Pharmaceutical Company Limited |
| Glassia® (alpha1-proteinase inhibitor [human]) | Takeda Pharmaceutical Company Limited |
| Zemaira® (alpha1-proteinase inhibitor [human]) | CSL Behring LLC |
Financing Your Care
Financial assistance coordination may be available to help with your medication costs, including manufacturer and community programs. Accredo representatives are available to help find a program that may work for you.
Financial Guidance
Life-saving specialty medication can be expensive. Learn how the Accredo teams help individuals find ways to afford the medication they need to survive in this video.
Find Support
There are many organizations that support research and advocacy for alpha-1 antitrypsin deficiency. See below for a few of those organizations.
Support Organizations
Meet the Team
Your Accredo alpha-1 antitrypsin deficiency team is dedicated to serving you and we understand the complexity of your condition. Our specialty-trained clinicians are available 24 hours a day, seven days a week, to answer any questions.
Why We Do It
Accredo supports patients with chronic and complex conditions and helps them live their best life. Watch our video to learn why we do what we do for our patients.