Genetics May Be Factor In Deadly Lung Disorder

Jack Massa used to be a smoker, but 11 years ago, something happened that made him quit.

"I got short of breath for no reason, just short of breath. I had to go to my knees to ever get my breath back," he said.

Seven years later, he learned he had a form of pulmonary fibrosis called Idiopathic Interstital Pneumonia (IIP). The air sacs in the lungs get inflamed and scarred. They become like stiff balloons and fail to exchange oxygen and carbon dioxide through the blood.

"You're going to die from it in a period of three years or so -- three to five years," said Duke pulmonologist Dr. Mark Steele.

Most people are diagnosed after age 65. Fortunately, at age 56, Massa was young enough to be a candidate for a lung transplant. He got one in June. Since there is no known cause for pulmonary fibrosis, Dr. Steele led a Duke study interviewing families like Massa's to find a genetic link. One out of 10 had a clear family history.

"My father died of it in 1987," he said.

If you have the pulmonary fibrosis gene, it may never express itself, but Duke researchers feel there are some environmental factors, like cigarette smoking, that may trigger it.

"So if you're a cigarette smoker, you are 3.7 times more likely to end up with the disease," Steele said.

Massa has two children who may have the gene.

"I've got a son that smokes and I've been on to him, I said, 'You're at risk of this and smoking is not going to help it,'" he said.

There may be other environmental triggers like pollution. That's under further study. The next step is to actually find the abnormal gene in the human genome. Then people can be tested and learn who's at risk.

Even if pulmonary fibrosis isn't in your family, smoking cigarettes increases your risk for problems such as heart disease, lung cancer and chronic obstructive pulmonary disease.