Alpha-1 antitrypsin deficiency, or AAT deficiency, is a condition that raises your risk for lung disease and other diseases.
Some people who have severe AAT deficiency develop emphysema often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe.
This article focuses on AAT deficiency as it relates to lung disease.
Cause
Alpha-1 anti-trypsin (AAT) deficiency is an inherited disease. "Inherited" means it's passed from parents to children through genes, Children who have AAT deficiency inherit two faulty AAT genes, one from each parent. These genes tell cells in the body how to make AAT proteins.
In AAT deficiency, the AAT proteins made in the liver aren't the right shape. Thus, they get stuck in the liver cells. The proteins can't get to the organs in the body that they protect, such as the lungs. Without the AAT proteins protecting the organs, diseases can develop.
The most common faulty gene that can cause AAT deficiency is called PiZ. If you inherit two PiZ genes (one from each parent), you'll have AAT deficiency, If you inherit a PiZ gene from one parent and a normal AAT gene from the other parent, you won't have AAT deficiency. However, you might pass the PiZ gene to your children.
Even if you inherit two faulty AAT genes, you may not have any related complications. You may never even realize that you have AAT deficiency.
Symptoms
The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.
Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss.
Some people who have severe AAT deficiency develop emphysema often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic cough.
At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.
Diagnosis
Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition.
Diagnosis
Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition.
Your doctor may suspect AAT deficiency if you have signs or symptoms of a serious lung condition, especially emphysema, without any obvious cause. He or she also may suspect AAT deficiency if you develop emphysema when you're 45 years old or younger.
Diagnostic Tests
Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions.
A genetic test is the most certain way to check for AAT deficiency. This test will show whether you have faulty AAT genes.
A blood test also may be used. This test checks the level of AAT protein in your blood. If the level is a lot lower than normal, it's likely that you have AAT deficiency.
Lung-Related Tests
If you have a lung disease related to AAT deficiency, your doctor may recommend lung function tests and high-resolution computed tomography scanning also called CT scanning.
Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests may show how severe your lung disease is and how well treatment is working.
High-resolution CT scanning uses x rays to create detailed pictures of parts of the body. A CT scan can show whether you have emphysema or another lung disease and how severe it is.
Treatments
Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD(chronic obstructive pulmonary disease).
If you have symptoms related to AAT deficiency, your doctor may recommend:
- Medicines called inhaled bronchodilators and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD.
- Flu and pneumococcal vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs.
- Pulmonary rehabilitation, Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best.
- A lung transplant. A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery, you may be a candidate for it. Augmentation therapy is a treatment used only for people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. The infusions raise the level of the protein in your blood and lungs.
Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease.
People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.
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