Aneurysm Blood Test

Unfortunately, says Elefteriades, a great many people with aortic aneurysms don't reach the hospital in time.

"The first symptom of an aneurysm is usually death," Elefteriades says.  "Most other diseases cause premonitory  symptoms, but not aneuryms.  Only one out of 20 aneurysm patients in general has any pain before the aneurysm tears internally, or ruptures.  I wish that patients felt their aneuryms, but they just don't.  And that's why screening tests become vitally important."

That's also why Elefteriades has devoted so much of his time researching ways to detect and treat the silent killers with preventative, rather than emergency surgery.

A heart ultrasound can detect aneurysms when the aorta has already begun to enlarge and weaken, and in 2006 Elefteriades urged in the journal Cardiology that bodybuilders and others planning to engage in heavy lifting – more than half of your body weight – be screened with this test.

He also recommends that anyone with a family history of aortic aneuryms be screened with a heart ultrasound, because his research has revealed that they run in familes meaning the cause is likely genetic.

To Elefteriades, that meant there must be a way to use genetic testing to identify patients at risk of aneurysms, as well as, ultimately, to discover the actual genes involved.

Setting the Stage

Now Elefteriades and collaborators at Applied Biosystems have taken the first step toward a simple blood test.

Test results from aneurysm study

As they wrote in PLoS One,  they found a set of 41 genes that were either over or under expressed in aneurysm patients compared with the controls.

They then tested this signature on an independent group of patients and control subjects to see if it could identify the aneurysm patients.  "It was about 85 percent accurate," says Elefteriades. But he adds that it's still not known whether the test would be useful in predicting aneurysms, or detecting them well before they become large and dangerous.

"Right now, we've only looked at… the point in time after the patients have been diagnosed with an aneurysm," Elefteriads says.  "But we would like to study the behavior of that profile over time, and see if it does change as we age, or see if it might predict rupture or internal tearing of the aorta.  That investigation remains to be done."

That will require clinical trials in undiagnosed people, which Elefteriades hopes to initiate in the next year.

"I have no doubt that blood tests for aneurysm will be part of our future," he says.

In addition, Elefteriades says the researchers are now taking a closer look at this set of genes to see if they can link their functions to the causes of aneurysms.

Linksi is living proof that with an aneurysm repaired, patients can go on to live a normal, healthy life.

"Both my grandparents lived to be 100-plus. I'm hoping for the same," Linski says.

This research was published in PLOS One, October 17, 2007, and funded by Yale University-New Haven Hospital, Applied Biosystems and Celera Genomics.