Innovative Blood Test for Vascular Ehlers-Danlos Syndrome

Researchers are making some progress discovering a potential biomarker for aortic dissections related to Vascular Ehlers-Danlos Syndrome. 

Posted by: Anna Ishibashi

aortic-dissection-diagram“Researchers from ShrinersHospital for Children, OregonHealth & ScienceUniversity, Baylor College of Medicine and the Texas Heart Institute, have demonstrated for the first time that fibrillin-1 in the blood stream could be a biomarker to diagnose aortic aneurysms and aortic dissections.

Aortic aneurysms and dissections, which often have symptoms similar to a heart attack, cause more than 10,000 deaths annually in the U.S. The survival rates of patients with Type-A dissections are 77% in 24 hours and 50% in 48 hours, according to the International Registry of Acute Aortic Dissections (IRAD). On the other hand, the survival rate is greater than 95% in non-emergency cases when patients have surgery after doctor’s diagnosis.

Researchers found high levels of fibrillin-1 in blood of patients with thoracic aortic aneurysms. Fibrillin-1 is a protein which is essential to make the body’s connective tissues and blood vessels, and high levels of fibrillin-1 are caused by damage of these tissues. They also found that high levels of fibrillin-1 are more likely to be associated with aortic dissection. These findings mean that fibrillin-1 could be used in a blood test to diagnose these two diseases in aortic.

“Biomarkers for aortic aneurysm and dissection are necessary because the presence of these conditions in the chest cannot be detected without appropriate imaging,” said Dr. Scott LeMaire, Professor and Vice Chair for Research in the Michael E. DeBakey Department of Surgery, Baylor College of Medicine. “A chest x-ray cannot reliably detect an aortic tear or aneurysm and, too frequently, by the time doctors dismiss the more common causes of chest pain, it is too late to help the patient.”

Currently, the diagnosis is made through medical imaging such as echocardiography, MRI and CT scanning, and there were no simpler or faster way that can be used in emergency department or in the doctor’s office. This innovative blood test of fibrillin-1 could benefit patients with Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers Danlos syndrome and familial thoracic aortic aneurysm and dissection.

“Our next step is to measure fibrillin-1 levels over several years in patients at high risk for aortic aneurysms. Long-term studies with large numbers of patients are the best way to determine whether the blood test is sensitive enough to monitor aortic aneurysm development or detect dissection,” said Dr. Lynn Marshall, an epidemiologist from Oregon Health& Science University.

Researchers are now enrolling children and young adults for a 5-year study at the Portland, Houston Shriners Hospitals for Children and the University of Utah, which is to identify the association of fibrillin-1 levels in blood and aneurysm growth. The study will monitor fibrillin-1 levels and echocardiograms of aortic root size in patients with Marfan syndrome and related disorders.”

This is some impressive work by researchers to help those with Ehlers-Danlos Syndrome, Marfans and other related disorders.

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  • Diane Crockett

    Hi,
    I am still waiting for confirmation of EDS, but I do have a Chiari 1, fibromyalgia, and hypermobility (as well as many other symptoms).
    As soon as I find out about the EDS, I want to have my two children tested. My daughter is almost 21, and a student at University of Utah. I would very much like to get her into the testing program if she is a candidate. Her symptoms have included migraine, hyperelasticity, nausea, anxiety, and some other symptoms.
    I just wanted to ask if you could please keep in contact with me about further studies.
    Thank you very much,
    Diane Crockett, age 53
    Chiari 1 (diagnosed 2013)
    just had new MRI’s 8/14 and 8/15 at Dixie Regional Imaging center. I am working with Dr. Laura Schlagel (re Chiari), and Dr. Clark (regarding hyperelasticity, joint problems). I also have some fear of my having vascular EDS, because I’ve had several angina-like attacks in my chest, arm, neck, nerve, and also because my feet tend to get Raynaud’s like black/purple color if they are not elevated all the time. It is not raynauds.
    Thank you!
    Diane Crockett
    435 669 6416

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