What Is AAT Deficiency?
Alpha-1 antitrypsin (AAT) deficiency is a condition that can cause serious lung or liver disease. Symptoms often include trouble breathing and jaundiced, or yellow, skin. It’s a genetic disease, which means it’s passed down to you from your parents.
You get it because your liver doesn’t make enough of the AAT protein, and much of what it does make gets trapped in your liver. You need this protein to protect your lungs from inflammation and damage caused by infections and irritants such as smoke and pollution. If your lungs are damaged, you can get COPD or emphysema. AAT deficiency is sometimes known as genetic COPD or genetic emphysema. And when AAT builds up in your liver, the buildup may cause scarring, or cirrhosis, of your liver.
You might not know you have the disease until you’re an adult. Most people get their first symptoms between the ages of 20 and 50.
Symptoms of AAT Deficiency
Common symptoms of AAT deficiency include:
- Wheezing or whistling sounds when you breathe
- Having colds often
- Feeling tired
- A fast heartbeat when you stand up
- Weight loss
If AAT deficiency affects your liver, you could have:
- Yellowish skin or eyes
- A swollen belly or legs
- Coughing up of blood
A newborn baby might have:
- Yellowing of the skin or eyes (jaundice)
- Bright yellow urine
- Trouble gaining weight
- An enlarged liver
- Bleeding from the nose or umbilical stump
- Pale, smelly poop
- Low energy
It’s rare, but some people also get a skin disease called panniculitis. It is inflammation of the fat layer under your skin and causes hardening of the skin along with painful lumps or patches.
How Alpha-1 Affects Your Liver
Alpha-1 is a rare disease that makes an enzyme in your liver work poorly. Alpha-1 antitrypsin protein usually travels from your liver through your blood to protect your lungs and other organs. But if the proteins aren’t the right shape, they can get stuck in your liver.
This can cause cirrhosis, severe liver damage and scarring, and liver cancer. And because the proteins aren’t traveling to your lungs like they should, it can also cause lung problems.
AAT Testing
First, your doctor will listen to your breathing with a stethoscope to check for wheezing or other signs that your lungs aren’t working right.
Blood tests. These will show the levels of AAT in your blood and measure your liver function. A special blood test called a blood gases test looks at the oxygen level in your arteries, a sign of how well your lungs work.
Genetic testing: If your blood levels of AAT are low, these tests will find abnormal genes and see if any have a link to AAT.
Imaging. X-rays and CT scans show where damage is in your lungs and how serious it is.
Pulmonary function tests. You’ll breathe into a machine that measures how well your lungs are working.
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Liver ultrasound or elastography. These tests will show if there are signs of scarring o
