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 40.
Symptoms
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. It causes hardening of the skin along with painful lumps or patches.
Treatment Plan
There’s no cure for AAT deficiency. But you can protect yourself from more lung damage with a treatment called augmentation therapy, sometimes called replacement therapy. It works by raising the amount of AAT protein in your blood. You may also have this treatment if you get emphysema.
With this treatment, you get a new supply of AAT protein from healthy human donors through an IV once a week. You can have this procedure at your doctor’s office or at home with the help of a technician.
Augmentation therapy can slow or stop the damage in your lungs, but it won't reverse the disease or heal any damage you already have. You’ll need these treatments for the rest of your life.
You may also get a bronchodilator, or medication to open your airways that you breathe into your lungs with an inhaler.
If your breathing trouble leads to low levels of oxygen in your blood, you might need extra oxygen through a mask or nosepiece.
Your doctor may also suggest that you go into pulmonary rehab, where you can learn breathing techniques and exercises, as well as how to make some everyday activities easier.
Diagnosis and 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.
Liver ultrasound or elastography. These tests will show if there are signs of scarring on your liver.
Liver biopsy. A small sample of cells is taken using a very thin needle and checked for signs of damage.
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