The genetic trigger behind some COPD cases and heart incidents

NORTHEAST PHILADELPHIA (WPVI) -- COPD, chronic obstructive pulmonary disease, affects more than 16 million Americans.

It's usually associated with smoking.

However, in some people, a genetic condition is also a factor.

"I live in a third-floor apartment. And if I walk up all three flights of steps, I feel like I'm gonna pass, like I'm gonna die," says Ken Fisher of Northeast Philadelphia.

Ken was 45 when he suddenly had an aortic dissection - tears in the lining of the main artery leaving the heart.

"I passed away from that, and they brought me back to life. Then my lungs filled up with blood, and they brought me back to life again," he explains.

After that, breathing problems set in.

"I miss working more than anything in the world," says Ken of his old job at a fishing pier in Florida.

Ken's hunt for answers led to the Temple Lung Center back home in Philadelphia.

There, he learned both problems were likely due to Alpha-1 Antitrypsin Deficiency, a genetic disorder.

"There is loss of lung tissue in the lower lobes," says Dr. Fred Kueppers, a long-time researcher and specialist on Alpha 1 deficiency.

Dr. Kueppers says the disorder disrupts a protein that protects the lungs.

If a person inherits one damaged Alpha 1 gene from each parent, their body won't make enough protein.

Inheriting a damaged gene makes a person a carrier.

"Between 3 and 5% have an abnormality of this particular protein," says Dr. Kueppers.

"My daughter's a carrier and my little brother's a carrier," notes Ken.

Dr. Kueppers, who identified the first American cases, says it's more common in people with European heritage, including African Americans with European ancestors.

"It's prevalent in Northern Europe - in Sweden, Norway, Denmark it's very high. And there is a certain type of deficiency that's more common in southern countries in Spain and Portugal, for example, They're a bit of Italy as well," says Dr. Kueppers.

Up to 80% of Alpha One carriers may be going undiagnosed.

"Personally, I feel very strongly that families should be screened," he says.

The American Thoracic Society already recommends screening for all COPD patients, because conventional drugs may not work for Alpha 1 patients.

Ken hopes weekly infusions of the missing protein will postpone a lung transplant.

"I do feel a lot better every time I get it," Ken says.

He's also in clinical trials for an oral drug that's cheaper and more convenient.

Dr. Kueppers is hopeful the new drug will succeed.

"Very easy to take, the safety profile is very good," he notes.

Dr. Kueppers says it's very important that Alpha 1 carriers avoid smoking.

In studies, those who didn't have almost no lung symptoms.