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Alpha-1 antitrypsin deficiency is a genetic condition, also known as Alpha-1 or A1AT deficiency. It can cause severe lung and liver disease. But some people never have symptoms.
The liver makes alpha-1 antitrypsin, a protein that helps protect the lungs from inflammation and inhaled irritants like tobacco smoke.
With A1AT deficiency, much of the protein gets trapped in the liver. That means the lungs don't get enough of it, leaving them prone to damage.
People with this deficiency may end up with serious lung diseases, including emphysema or COPD.
The build-up of alpha-1 antitrypsin in the liver can cause damage there, too.
Around 1 in 2,500 people worldwide has A1AT deficiency.
Alpha-1 is a genetic disease. If you have it, you received two abnormal genes — one from your mother and one from your father.
If either of your parents has A1AT deficiency, they received two faulty genes from their parents. If your parents don't have Alpha-1 but you do, that means each parent has one faulty gene and one normal one.
Some people inherit the damaged genes but don't have any lung or liver symptoms.
A1AT deficiency is an inherited disorder. That means you're much more likely to have it if you have a family history of the disease.
A1AT deficiency is most common among white people of European descent, but it occurs in all races and ethnic groups.
Alpha-1 can cause serious, even fatal, complications if left untreated such as:
AA1AT deficiency is a lifelong genetic disease for which there is no cure. You'll want a specialist with knowledge of treating Alpha-1, like the experts at the UPMC Center for Liver Diseases.
If your A1AT deficiency leads to liver failure, you'll need a liver transplant.
UPMC is home to one of the oldest and most experienced transplant centers in the U.S. Also, we're a national leader in living-donor liver transplants, which might get you matched with a donor sooner.
Many people who have A1AT deficiency have no symptoms at all. Other people start to show symptoms between ages 20 and 40.
Alpha-1 symptoms to watch out for include:
Symptoms of liver damage include:
See your doctor if you have these symptoms.
Newborn babies with A1AT deficiency sometimes show symptoms, too.
These include:
If your doctor thinks you have A1AT deficiency, you'll need blood tests to confirm the diagnosis.
Your doctor:
If your doctor has concerns about potential liver damage, you might need a liver biopsy. In this minor surgery, your doctor will remove a small piece of liver to examine it.
Doctors can't currently cure A1AT deficiency, but they can treat the symptoms and try to slow down any organ damage.
Your doctor will design treatment goals for you based on your symptoms and specific needs.
If you develop severe liver cirrhosis, you may need a liver transplant.
The most common treatment for this disease is A1AT augmentation therapy.
You can receive the A1AT protein (collected from donated blood) through an IV. This raises the level of the protein in your lungs and helps slow down lung damage.
You can take a number of steps to keep your liver healthy, too.
You should:
Your doctor can use drugs to treat common liver-related symptoms like:
If you have severe liver cirrhosis from A1AT deficiency, you may need a liver transplant.
This is a major operation in which doctors remove your diseased liver and replace it with a healthy one from a donor.
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