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How to Recognize AAT Deficiency

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. 

How Is AAT Deficiency Different From COPD?

COPD (chronic obstructive pulmonary disease) is the name for two conditions: emphysema and chronic bronchitis. They both make it hard to breathe. Most people get COPD from irritants that damage their lungs. Smoking is the most common cause.

AAT deficiency isn’t the same as COPD, but it can lead to it.

Up to 3% of all COPD cases are triggered by AAT deficiency. Most people are first told they have COPD. Later they learn they have AAT deficiency. It's sometimes called "genetic COPD." 

Early symptoms are one clue.

  • People with AAT deficiency tend to develop symptoms in their 30s and 40s.
  • People with COPD from other causes are more likely to get symptoms their 60s and 70s.

What Can You Expect?

Getting diagnosed with AAT deficiency can be a shock. At its worst, the illness can make it hard to work or care for a family. It can shorten a person's life. Then again, it might not.

The good news is that once you know you have it, you can get treatment to help stop it from getting worse.

Campbell, who's in his late 60s, says he's grateful that he was diagnosed and that treatment is working well. As communications director for the Alpha-1 Foundation, he tries to reach the people struggling without a diagnosis -- the people who don’t even know what AAT deficiency is. Campbell was once one of them.

"If you have any symptoms, ruling out alpha-1 with a test should be a routine, just like doctors rule out other conditions," Campbell says.

Sandhaus has received funding for clinical studies from CSL Behring, AstraZeneca, Grifols, and Kamada.

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Reviewed on May 03, 2013

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