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How to Recognize Alpha-1 Antitrypsin Deficiency

By
WebMD Feature
Reviewed by David T. Derrer, MD

When Bob Campbell found out that he had alpha-1 antitrypsin deficiency (alpha-1) 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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Alpha-1 is genetic. People with it have two copies of a faulty gene, one from each parent. Like Campbell, many people with this condition have a family history of lung and liver problems.

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

What Is Alpha-1 Antitrypsin Deficiency?

The first signs are usually lung problems, like chronic wheezing or coughing. But the problems start in your liver. It doesn't send enough of a special protein, called alpha-1, out into the bloodstream. The protein is needed to protect your lungs.

Over time, the lack of the protein can lead to lung damage. Tobacco smoke, pollution, and even common colds can cause serious illness.

Symptoms include:

  • Shortness of breath and wheezing
  • Chronic cough with mucus
  • Colds that don't go away
  • Asthma that doesn't get better with treatment

In some people, the buildup of the alpha-1 protein in the liver leads to problems, including:

  • Jaundice, which causes your skin and eyes to turn yellowish
  • Swelling in your belly and legs

No one can diagnose it based on symptoms alone. You need a blood test.

Many other conditions share some of these symptoms. That's why doctors often miss it. It's estimated that fewer than 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."

Often, people are first told they have COPD (chronic obstructive pulmonary disease) and only later learn it's actually alpha-1.

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