In this image, both parents have a normal AAT gene and a mutated AAT gene (called being a carrier). The image below shows how mutated AAT genes are passed to children. The most common mutations that cause AAT deficiency are called PiZ and PiS. The AAT gene can have different mutations. You might also pass the mutated gene to your children. However, you might develop some complications of AAT deficiency if you smoke or regularly breathe in dust and fumes. You might have lower levels of AAT protein in your blood, but you most likely will not have AAT deficiency. If you inherit a mutated AAT gene from one parent and a normal AAT gene from the other parent, you are a carrier for the condition. If you inherit a mutated gene from each parent, you will have AAT deficiency. Every person inherits two AAT genes, one gene from each parent. “Inherited” means it is passed from parents to children through genes. Without enough AAT protein, your immune system may damage your lungs and lead to lung disease.ĪAT deficiency is an inherited disease. The AAT protein prevents you from having too much Inflammation in your lungs. For example, your immune system is your body’s defense against bacteria and viruses but if it is overactive, it can damage your body while fighting diseases. This protein enters your blood and protects your organs, including the lungs, from damage. Your doctor may also talk to you about healthy lifestyle changes, such as quitting smoking and avoiding secondhand smoke and other fumes.Įxplore this Health Topic to learn more about alpha-1 antitrypsin deficiency, our role in research and clinical trials to improve health, and where to find more information.Īlpha-1 antitrypsin (AAT) deficiency happens when you do not make enough AAT protein. You may also need oxygen therapy, pulmonary rehabilitation, or medicines to treat complications. Also, talk to your doctor if you have symptoms such as a chronic (ongoing) cough, shortness of breath, wheezing, or liver disease.Ĭurrently, AAT deficiency has no cure, but a treatment called augmentation therapy may help slow lung damage. Talk to your doctor if you have a family member who has AAT deficiency or who was diagnosed with COPD in their 40s or 50s. Many people do not know that they have it, but early diagnosis can help prevent serious lung disease. This topic focuses on AAT deficiency that leads to lung disease.ĪAT deficiency runs in families.
This is more common in children who have AAT deficiency. AAT deficiency may also cause a liver disease called cirrhosis.
This can lead to serious lung diseases, such as chronic obstructive pulmonary disease, or COPD. If you do not make enough AAT, your lungs are more easily damaged from cigarette smoking or fumes and dust from the environment. Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that raises your risk for lung disease and other diseases.ĪAT is a protein.