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Alpha-1 Antitrypsin Deficiency

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What Is Alpha-1 Antitrypsin Deficiency?

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.

A1AT deficiency causes

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.

Alpha-1 antitrypsin deficiency risk factors and complications

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:

  • Asthma
  • Cirrhosis of the liver
  • COPD
  • Emphysema
  • Respiratory failure
  • Vasculitis

Why choose the UPMC Center for Liver Care for A1AT deficiency care?

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 Care.

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.

Alpha-1 Antitrypsin Deficiency Symptoms and Diagnosis

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:

  • Shortness of breath, especially when active.
  • Whistling or wheezing sound in lungs.
  • Rapid heartbeat, especially when you first stand up.
  • Unexplained fatigue.
  • Unexplained weight loss.

Symptoms of liver damage include:

  • Yellowish tint to skin or eyes ( jaundice).
  • Swollen legs or belly.
  • Loss of appetite.

See your doctor if you have these symptoms.

Newborn babies with A1AT deficiency sometimes show symptoms, too.

These include:

  • Jaundice.
  • Enlarged liver or spleen.
  • Diarrhea.
  • Slow weight gain.

Diagnosing alpha-1 antitrypsin deficiency

If your doctor thinks you have A1AT deficiency, you'll need blood tests to confirm the diagnosis.

Your doctor:

  • Will check the level of alpha-1 antitrypsin protein in your blood. If that level is lower than normal, you probably have A1AT deficiency.
  • May also order a genetic test to confirm the results of the blood test. This test can find the defect in the alpha-1 antitrypsin gene.
  • May order an ultrasound of your liver.

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.

Alpha-1 Antitrypsin Deficiency Treatment

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.

Medicine to treat A1AT

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:

  • Quit smoking.
  • Avoid alcohol.
  • Get vaccines for hepatitis A and B.
  • Lose weight if needed.
  • Eat a balanced diet, including plenty of fresh fruits and veggies.
  • Take vitamins D, E, and K with your doctor's approval.
  • Talk to your doctor before using any over-the-counter supplements.

Your doctor can use drugs to treat common liver-related symptoms like:

  • Jaundice
  • Excess fluid retention
  • Severe itching

Surgery to treat alpha-1 antitrypsin deficiency

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.