Simplifying Therapy for Alpha-1 Antitrypsin DeficiencyDiplomat Specialty Infusion Group combines clinical expertise with personalized care.
AATD is an inherited condition that causes AAT proteins, which protect the lungs and other organs, to get trapped in the liver. This increases risks of cirrhosis and other liver diseases.
People with AATD are most susceptible to life-threatening lung diseases. They can develop emphysema early in life (usually between ages 40 and 50). Risk factors include exposure to tobacco smoke, toxic substances, dust, and fumes.
Rarely, people with AATD can develop a painful skin disease called necrotizing panniculitis.
People with AATD inherit the condition from their parents. Each parent must pass on a faulty AAT gene for their child to have AATD. However, even people with two faulty AAT genes might not have symptoms or even know they have AATD. People with one faulty gene will not have AATD, but could pass the gene to their children.
The first symptoms of AATD usually occur between ages 20 and 40, although liver complications are often diagnosed in infancy and early childhood.
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What are the symptoms of alpha-1 antitrypsin deficiency?
The first symptoms of AATD can include shortness of breath, wheezing, and reduced physical endurance. Patients might also have lung infections, vision problems, tiredness, weight loss, and a rapid heartbeat upon standing.
Patients who develop emphysema can have a chronic cough, trouble breathing, and wheezing. That’s why AATD is often misdiagnosed as asthma.
What are the different types of alpha-1 antitrypsin deficiency?
There are many different types of AATD that are based on the genes you have. The most common defective genes tied to AATD are known as S and Z, while M is considered normal. So, a person without AATD will have two M genes (MM).
Generally, people with one faulty AAT gene are carriers of the disorder, while people with two faulty AAT genes have the disorder. However, even people with two faulty genes might never have complications or even know they have AATD.
This table shows how AAT genes relate to circulating AAT protein levels and associated lung disease. This helps your doctor understand how to treat your AATD.
How does Diplomat help people with alpha-1 antitrypsin deficiency?
There is no cure for AATD, but the related lung diseases can be treated. Not smoking, or quitting if you do smoke, will help delay or prevent lung diseases. A healthy diet and regular physical activity will help maintain lung function.
If you have severe AATD, your doctor might prescribe alpha-1 augmentation therapy. This involves a medication called alpha-1 proteinase inhibitor (A1Pi), which helps increase the AAT proteins in your body. Augmentation therapy is often prescribed in severe cases to help slow a decline in lung function. The medication will be infused — injected into a vein. This can be done safely at home with a nurse’s help.
Diplomat Specialty Infusion Group dispenses many A1Pi treatments. We can provide qualified in-home nursing service as well.
Remember: The information here — and on linked sites — is not meant to replace advice, care, or a diagnosis from your physician. If you have questions about your condition, please ask your provider.
The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.
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