Alpha-1-antitrypsin (AAT) deficiency, or Alpha-1, is an inherited condition that can lead to cirrhosis and other liver diseases, and/or emphysema. A child inherits AAT deficiency from both parents, each of whom has an abnormal AAT gene that gets passed along at birth. If only one parent has the abnormal gene and the other parent's AAT gene is normal, the child will be a "carrier" of the disease, but not have the disease itself.
Treatment for AAT Deficiency
- Smoking cessation
- Elimination, or reduction, of exposure to environmental irritants
- COPD Medications, including the proper use of antibiotics
- Flu, pneumonia and hepatitis vaccines
- Pulmonary rehabilitation
- Oxygen therapy, if necessary
- A healthy nutrition and exercise program
- Lung transplant
- Augmentation therapy, if you have AAT deficiency and emphysema
What is Augmentation Therapy?
Augmentation (replacement) therapy is a treatment specific to AAT deficiency that replaces AAT in patients who are AAT deficient. It is reserved for people with lung diseases caused by AAT deficiency, and the treatment involves a weekly intravenous infusion of the AAT protein. The goal of replacement therapy is to increase AAT levels in the blood and lungs of an individual with AAT deficiency.
Is Augmentation Therapy a Cure for AAT Deficiency?
No, augmentation therapy is not a cure, nor will it restore lung function that's already been lost because of AAT deficiency.
What Are the Benefits of Augmentation Therapy?
Studies suggest that replacing the AAT protein in AAT-deficient individuals slows the progression of lung decline typical of Alpha-1. It may also decrease the frequency and severity of COPD exacerbations, thus reducing hospitalizations and hospital-related healthcare costs, and enhancing survival.
How Long Must I Undergo Augmentation Therapy?
Until other treatment options become available, intravenous infusions of AAT are ongoing and lifelong.
Where Does Replacement AAT Come From?
Augmentation therapy uses AAT protein derived from the blood plasma of human donors. Once removed from a healthy donor, it goes through a rigorous screening process before it's ready to be infused into a patient with AAT deficiency.
Which Medications Are Approved for Replacement Therapy?
To date, there are four FDA-approved medications available in the United States for augmentation therapy, and one available in Spain. They include:
Where Do I Get the AAT Infusion?
Generally, the AAT infusion is administered by a qualified healthcare professional, either in your home, at your doctor's office, or at an outpatient infusion center. Some people, with a doctor's approval and proper instruction, may elect to self-administer the infusion at home.
Is Augmentation Therapy Appropriate for Every Patient?
Only patients who've been accurately diagnosed with AAT deficiency and emphysema are candidates for augmentation therapy. In addition, the Alpha-1 Foundation cites existing controversy over administering augmentation therapy to individuals with either very mild, or very severe, lung disease. The most recent clinical data reveals that patients who benefit the most from augmentation therapy are those whose lung function falls somewhere in the mid-range of severity.
What are the Side Effects of Augmentation Therapy?
The majority of patients undergoing augmentation therapy report no significant side effects from the treatment. If side effects do occur, they are usually mild, with the most common listed below:
- Muscular aches
- Flushed skin
Is Periodic Monitoring of My AAT Level Required?
Currently, the periodic monitoring of AAT levels during augmentation therapy is not recommended, although some doctors feel they should still do it.
What Type of IV Access is Required for Replacement Therapy?
The type of IV access device you'll use depends upon your doctor, the condition of your veins, your lifestyle, and your personal preference. The majority of patients choose an intermittent IV catheter that's inserted weekly each time they have the infusion. Some patients, however, have veins that are difficult to visualize or palpate, making intermittent IV access a nightmare. In these cases, an implanted central venous access port (portacath) or a PICC line may be recommended to make augmentation therapy more convenient and less traumatic. Before making a decision about which access device is best for you, be sure to discuss the risks and benefits of each device with your healthcare provider.
What Else Should I Know About Augmentation Therapy?
Before starting augmentation therapy, the Alpha-1 Foundation recommends that patients be tested for a hereditary condition known as IgA deficiency. People with IgA deficiency are more likely to suffer severe allergic reactions to plasma products. Patients should also consider getting vaccinated for Hepatitis A and B to prevent potential liver damage from Alpha-1.
For more information about Alpha-1, visit:
Barros-Tizón JC, et. al. Reduction of severe exacerbations and hospitalization-derived costs in alpha-1-antitrypsin-deficient patients treated with alpha-1-antitrypsin augmentation therapy. Ther Adv Respir Dis. 2012 Apr;6(2):67-78. Epub 2012 Feb 21.
Heresi GA, Stoller JK. Augmentation therapy in alpha-1 antitrypsin deficiency. Expert Opin Biol Ther. 2008 Apr;8(4):515-26.
Tonelli, Adriano R., et. al. Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank. Int J Chron Obstruct Pulmon Dis. 2009; 4: 443–452. Published online 2009 December 29.
The Alpha-1 Foundation. Augmentation Therapy. Updated 2012.