Claims are swirling that Michael Jackson may—or may not—be gravely ill and in need of a lung transplant because of a rare genetic condition called alpha-1 antitrypsin deficiency. Whether the King of Pop is breathing easy or gasping to hit a high note, the buzz has certainly cast a spotlight on a little discussed disorder that can lead to lung disease in adults. U.S. News spoke with Mark Wewers, a pulmonologist who is a professor of medicine at Ohio State University Medical Center. Wewers started working with alpha-1 antitrypsin deficiency 25 years ago; he now runs a specialty clinic for affected patients. Edited excerpts:
What is alpha-1 antitrypsin deficiency?
It's a genetic disorder that leads to a low level of alpha-1 antitrypsin protein in the blood, a protein that acts as a protective shield and blocks the activity of destructive enzymes. These enzymes can, in essence, chew up the lung tissue and destroy it when there's no protective shield. So patients have a deficiency in this protective shield that we think serves to inhibit damage. That destruction is also called emphysema. How many people have it?
It's a rare disorder. Somewhere in the ballpark of within 1 in 5,000 to 1 in 10,000 people have it in the U.S. That's why you [probably] haven't heard of it before. What symptoms does it cause?
The way it usually presents is with shortness of breath upon exertion. Patients start to notice that they can't do the things they used to do. They might get short of breath walking up a flight of stairs, or, if they're active, they have to cut back on the amount of exercise they can do because they just can't do the same amount they used to. Sometimes there's a wheeze. Sometimes [patients] are misdiagnosed as asthmatics for a long time. This disease is missed frequently. How does it interfere with daily life?
It can be quite devastating. In severe cases, patients are unable to do activities of daily living. It may become hard to get dressed; it may become hard to take a shower. In mild cases it might be that [patients] can't run the 10k anymore. It's a matter of degree. It's all about being able to breathe and about shortness of breath. How would a lpha-1 interfere with the career of a professional singer?
It can really affect [a patient's] wind power, and wind power is really important for singing, so, yeah, it could have a big effect on that. Not to mention dancing. All of the things that require effort and require voice and wind power are tremendously affected. Can some people with alpha-1 live a full life without ever getting symptoms?
We think there's a large fraction of folks who have it and probably never get disease—particularly those who don't have risk factors like cigarette smoking. They may live a normal life without ever getting emphysema. Smoking increases the onset [of symptoms] by about 15 to 20 years. Most folks start to show disease somewhere between 30 and 50 years of age, which is young for emphysema to show up, and, again, most of them are smokers. Patients may get disease in their 50s, 60s, or 70s, but those are typically nonsmokers. How is it treated?
There is a form of therapy that's given to some patients in the hopes of trying to prevent future lung damage—to prevent the emphysema—called augmentation therapy, or replacement therapy, that's giving intravenous infusions of the alpha-1 protein itself. But probably more important than that is getting folks to quit smoking. Alpha-1 deficiency emphysema is treated like all other emphysemas. That means bronchodilators, it means pulmonary rehab programs, exercise programs, that sort of thing.
Can the disorder be cured? What does it mean for patients who have severe cases?
The issue [for patients] is how much lung damage do they have and how much lung function have [they] lost. This is not a reversible process—this is permanent damage to the lungs. If [patients are] at the severe stage, the options become quite few. One might consider, eventually, things like a lung transplant. That would be the ultimate therapeutic approach, but it carries its own problems and risks as well.