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.
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.
- 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:
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."
How Is Alpha-1 Different From COPD?
Up to 3% of all COPD cases are triggered by alpha-1.
- People with alpha-1 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.
Can You Have Alpha-1 and Not Know It?
Without testing, you won't know you have it. And not everyone who has it has symptoms. Experts aren’t sure why.
If you have symptoms, your doctor should consider testing you. That's especially true if you had breathing problems at a young age or have a family history of them.
What Can You Expect?
Getting diagnosed with alpha-1 can be a shock. Avoiding things that can hurt the lungs, like cigarette smoke and air pollution, can sharply lower the odds for serious damage.
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.
Once you know you have it, you can get treatment to 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 know anything about the disease. 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.