The following article is sponsored by University of Utah Health Care.
Utah is home to the largest per capita population of Pacific Islanders in the contiguous United States. But at just slightly more than one percent, Pacific Islanders only make up a small fraction of the Beehive State’s overall population.
So when David Bull, M.D., a cardiothoracic surgeon at University of Utah Health Care, noticed that Pacific Islanders seemed to make up a significant share of the patients coming in to the hospital emergency room with acute aortic syndrome — severely life-threatening abnormalities of the central artery in the human body — he was determined to investigate further.
Slowly but surely, Bull and his University Health Care colleagues have compiled a database of 50 individuals of Pacific Islander origin who have consented to have their genetic information cataloged by the Utah Thoracic Aortic Center. In the coming year, Bull expects the center will have enough information to begin a search for genetic commonalities that could help lead to better preventative care.
So, what is acute aortic syndrome?
Dr. Bull: Acute aortic syndrome includes aneurism — that’s a dilation of the aorta in the chest. If the aorta gets too large, beyond five or six centimeters in diameter, it can actually tear and rupture.
Aortic dissection — an acute tear of the wall of the aorta — is another problem. That’s when the wall of the aorta tears and ruptures and blood starts moving into an alternative channel. That can compromise the blood flow to major organs like the brain, liver and kidneys.
There’s also intramural hematoma — that’s bleeding into the wall of the aorta — and ulcers that can form in the wall of the aorta. All of these conditions are life-threatening emergencies.
And the suspicion is that these problems are more common in Pacific Islanders?
From our experience, there does seem to be a higher incidence of acute aortic syndrome, so what we’re doing right now is identifying patients and enrolling them for genetic testing so we can better understand if there’s a genetic basis for their aortic disease.
If we can identify a genetic basis, we think we can go back and trace it through generations to better understand how it’s transmitted through a family. To do that, though, we have to build a big enough database of genetically affected individuals — that’s what we’re doing right now.
When people hear words like “genetic basis” they sometimes think there’s nothing they can do.
A lot of people have an almost fatalistic attitude. They think there’s nothing much they can do to change their risk factors. That’s not the case. There is a lot you can do to lower your risk profile and hopefully prevent having one of these terrible complications.
It’s common for people to be under the impression that if their parents or grandparents didn’t have a problem with heart health, they won’t either. And if their parents or grandparents did have a problem, then there’s nothing they can do to impact that. But this isn’t determined by fate.
If you smoke and don’t control your blood pressure, or if you’re heavy and you don’t exercise, then you could develop heart disease even if your parents did not. On the other hand, if you have a family history of heart disease and you continue to engage in unhealthy behaviors, then yes you are that much more likely to develop a problem. But there are a lot of new and existing therapies that have been developed, and if you avoid smoking and keep your weight under control, you absolutely don’t have to be resigned to a certain fate.
Are there other places where work is being done to investigate the connection between Pacific Islanders and aortic disease?
We’re one of the few. Our relatively large population of Pacific Islanders is part of it, but we’re also advantaged because we have some unique resources nearby.
We’re close to ARUP Laboratories, which has a lot of genetics testing experience and expertise. We also have local access to the Utah Population Database — a unique and extensive set of Utah family histories that is a particular asset here in Utah for people doing genetics research. These resources can really help us in a way people from other parts of the country can’t access as easily.
What’s the long-term goal?
People are much more likely to do better if they know they have a problem before it becomes an emergency. So what we want to do is reduce the number of people with surgical emergencies and increase the number of people coming in for regular surveillance check-ups. When people with aortic disease deal with it in an organized, elective, scheduled fashion, they’re likely to do well.
The problem, though, is that aortic disease is often silent. People don’t know they have a problem until they have a rupture or a tear. That’s where genetic testing can be really helpful — it can give us an alert that someone needs regular preventative care.
What is the best advice you can offer anyone when it comes to heart health?
Don’t smoke cigarettes, keep your weight under control, and watch your blood pressure. We find that uncontrolled hypertension is a major risk factor for acute aortic emergencies — and that can become an even more significant risk factor as people get older. It’s important to come in and see a cardiologist if you have any questions or concerns, and to get screened. There’s a lot that can be done if you come in and are being seen on a regular basis.