Is there treatment for alpha-1 antitrypsin deficiency?
There are treatments for people with alpha-1 antitrypsin deficiency (AATD). Guidelines written for healthcare providers about diagnosis and management of people with AATD can be found at: http://journal.copdfoundation.org/jcopdf/id/1115/The-Diagnosis-and-Management-of-Alpha-1-Antitrypsin-Deficiency-in-the-Adult
Augmentation therapy is the U.S. FDA-approved treatment for AATD-related lung disease. Augmentation therapy increases the amount of alpha-1 antitrypsin protein (AAT) in the blood and lungs. It is not meant for individuals with AATD who do not have lung disease. It does not treat liver disease. The goal is to slow or stop the progression of lung damage by replacing the protein that is missing. Augmentation therapy cannot cure AATD or restore lost lung function; however, there is evidence that it slows progression of emphysema.
Augmentation therapy is made of AAT protein from the blood of healthy human donors. It is usually given weekly by intravenous (IV) infusion. Infusions may be done at home or at an infusion center. Until other therapies become available, augmentation therapy is considered ongoing and lifelong.
As of 2017, there are four augmentation therapy products approved by the FDA and available in the United States: Prolastin-C, Aralast NP, Zemaira, and Glassia.
Augmentation therapy is the only specific therapy for AATD-related lung disease, but people with this also benefit from standard treatments for chronic obstructive pulmonary disease (COPD). If you have COPD due to AATD, talk with your healthcare provider about which treatments might be right for you.
There are many medications that treat symptoms of lung disease. In general, these medications are the same as those for individuals with other lung diseases, such as asthma, emphysema, bronchiectasis, and COPD. Medications may be taken by mouth or inhaled. Pills and capsules have an effect on the body as a whole, whereas inhaled medications target the lung directly.
Medications for lung disease may be prescribed to help decrease mucus production and inflammation, reduce or prevent flare-ups, open airways, help clear mucus, relieve air from being trapped in the lungs, help with airflow and fight infection.
People with AATD should receive vaccinations for influenza, pneumonia, whooping cough (pertussis), and hepatitis B.
People with COPD may require supplemental oxygen. Pulmonary rehabilitation programs help people to live and breathe better with the lung function they have.
Lung or liver transplantation is an option for some patients with advanced AATD. Individuals must have extensive damage to the lungs or liver to warrant this surgical option.
Next steps: For more information about treatments, talk to your doctor or someone who specializes in alpha-1 antitrypsin deficiency. A list of alpha-1 specialists can be found at www.alpha1.org.
Alpha-1 Foundation. Treatment. Retrieved from https://www.alpha1.org/Newly-Diagnosed/Living-with-Alpha-1/Treatment.