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How to Recognize AAT Deficiency

WebMD Feature
Reviewed by James E. Gerace, MD

When Bob Campbell found out that he had alpha-1 antitrypsin deficiency at age 55, he'd never heard of this inherited lung disease before. Most people haven't. 

But once he learned more, it made sense. "That diagnosis explained so much," he says. Campbell had emphysema by his late 20s. He had a family history of severe lung problems. Up until that moment, he never knew why. 

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Even though he saw many doctors over the years, Campbell had to wait 27 years to get the right diagnosis. It shouldn't take that long. AAT deficiency, also called alpha-1, is rare. But it's easy to find with a simple blood test. If you do have it, the sooner you get diagnosed, the sooner you can start treatment to protect your lungs.

What Is AAT Deficiency?

The first signs of AAT deficiency are usually lung problems, like chronic wheezing or coughing. But the real problem starts in the liver. Your liver doesn't send enough of a special protein, called alpha-1, out into the bloodstream. Alpha-1 helps protect the lungs.

Over time, that lack of protection can lead to lung damage. Tobacco smoke, pollution, and even common colds can lead to serious illness. Meanwhile, the protein builds up in the liver. Rarely, that can lead to liver problems, though these are more likely in kids than adults.

Symptoms of AAT deficiency include:

  • Shortness of breath and wheezing
  • Chronic cough with mucus
  • Colds that don't go away
  • Asthma that doesn't get better with treatment
  • Trouble exercising
  • Jaundice, which causes your skin and eyes to turn yellowish
  • Swelling in your belly and legs

Many other conditions share some of these symptoms. That's why doctors often miss AAT deficiency. It's estimated that only 10% of people with the illness know they have it.

"Many people that I see with alpha-1 were misdiagnosed," says Robert A. Sandhaus, MD, PhD, of National Jewish Health in Denver. "Their doctors told them they had asthma and never tested them."

No one can diagnose AAT deficiency based on symptoms alone. Instead, you need a blood test.

Who Gets AAT Deficiency?

AAT deficiency is genetic. That means people with it have two copies of a faulty gene, one from each parent. Many people have a family history of lung and liver problems.

Not everyone who has AAT deficiency develops symptoms, though. Experts aren’t sure why. Avoiding lung irritants, like cigarette smoke, can sharply lower the odds for serious damage.

Getting tested isn't routine. But if you have symptoms, your doctor should consider it. That's especially true if you had breathing problems at a young age or have a family history of them. 

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