Alpha-1 antitrypsin (AAT) deficiency is a disorder characterized by premature emphysematous changes within the lung. Many patients know very little about the disorder until they are diagnosed with it. We spoke with Dr. Amit Mahajan, Medical Director of Interventional Pulmonology for Inova Health System about AAT and what is important for patients and caregivers to know.
What Causes AAT Deficiency?
AAT deficiency is an inherited disease that is caused by inheriting two mutated SERPINA1 genes. The SERPINA1 gene makes a protein called Alpha-1 antitrypsin (AAT) whose job is to protect your lungs from damage caused by another protein, neutrophil elastase, which attacks infections in your lungs. Different types of SERPINA1 mutations can tell your body to make less AAT, not to make any ATT or cause AAT to be unable to get to your lungs. These mutations all cause you to have too little AAT in the lungs, leaving them vulnerable and, eventually, causing severe organ damage.
More common in people of European descent, about 1 in 25 Americans are carriers and about 1 in 2,500 have this active disease. AAT deficiency can lead to lung diseases like COPD, emphysema, severe asthma and bronchiectasis. This gene mutation can also cause AAT to congregate in the liver, leading to liver disease, specifically cirrhosis. “AAT results in progressive destruction of the lung tissue mimicking changes seen in people with long histories of smoking. Typically, patients with AAT deficiency will need AAT replacement or may need lung transplant in the future,” Dr. Mahajan said.
Can You Prevent AAT Deficiency?
Because it is linked to your genes, AAT cannot be prevented, but there are things you can do to reduce the risk of organ damage. Quitting smoking or vaping and avoiding secondhand tobacco exposure is the most important thing you can do to improve your health. Similarly, avoiding other lung irritants like chemicals, allergens and dust and limiting alcohol use can keep your lungs and liver from working too hard. Your healthcare provider will also encourage you to stay up to date with your vaccines, especially for COVID-19, pneumonia and the flu, which affect your breathing. In addition, maintaining a healthy diet and getting regular exercise is suggested.
What Symptoms Signal AAT Deficiency?
Symptoms will normally begin between 20 and 50 years old. Since AAT affects the lungs and liver, symptoms normally come in those two forms. The most common are shortness of breath, wheezing, coughing, and as the disease progresses, a decrease in lung capacity, fatigue and pain when breathing. If the liver is affected, weight loss and loss of appetite, swelling of the legs or belly, jaundice, and throwing up blood are all signs of progression.
How is AAT Deficiency Diagnosed?
Symptoms of AAT deficiency are similar to many other lung diseases, specifically asthma, which is sometimes why it is initially misdiagnosed. That is why it is important to talk to your healthcare provider and get tested. “We recommend that the standard of care be for anyone diagnosed with emphysema, with or without a history of smoking, should be tested for AAT deficiency. This can allow for appropriate use of augmentation therapy if needed,” said Dr. Mahajan.
An initial pulmonary function test can tell you how well your lungs are working. Your healthcare provider may suggest an X-ray or CT scan, which will show signs of AAT deficiency in your lungs as well as determine how severely your organs have been damaged. But the most definitive way to diagnose AAT is with a blood test which will show if you have low levels of Alpha-1. If so, further genetic testing is needed to get a definitive Alpha-1 diagnosis.
How is AAT Deficiency Managed and Treated?
Though there is no cure, being diagnosed with AAT is not a death sentence, many people go on to lead long and healthy lives. What is important is to talk to your doctor about what having the condition means for you and what steps you will need to take depending on how much damage has been done to your organs. Augmentation therapy can increase your AAT levels by getting injections of AATs from a blood donor. If you have trouble breathing or low oxygen levels, your healthcare provider may prescribe supplemental oxygen, or in less severe situations, inhaled corticosteroids and bronchodilators. Pulmonary rehabilitation can teach you breathing exercises and other physical therapy to make breathing easier. Some AAT patients will require lung or liver transplants if the organs become severely damaged.
When discussing treatment options with your healthcare provider, you may want to ask about clinical trials. Visit clinicaltrials.gov to learn more about new drugs that are being tested or current drugs that are being evaluated in different ways. “Do not give up hope if diagnosed with AAT deficiency. Appropriate augmentation therapy, inhalers, and pulmonary rehab can slow progression of disease. Additionally, research is constantly evolving in the space of AAT deficiency and newer, improved therapies are currently in the pipeline,” said Dr. Mahajan.
To find out more about AAT Deficiency visit our website.
Blog last updated: August 23, 2023
