Connective Issues Winter 2018

LOEYS DIETZ SYNDROME

GENETIC TESTING RESULTS LEAD TO LIFE-SAVING TREATMENT

diagnosis, I also found out that I needed aortic surgery as soon as possible.” Loeys Dietz and Marfan differ in the way the blood vessels are impacted. In Marfan, the aorta, the large artery that takes blood away from the heart, is prone to enlarge and can tear. In Loeys Dietz, blood vessels throughout the body are at risk so affected people need to have more comprehensive imaging of their whole body (not just their aorta). In Marfan syndrome, the threshold for aortic surgery is when the aortic root measures 5.0 cm in diameter (unless there is a family history of dissection at a smaller size). In Loeys Dietz syndrome,

the threshold for surgery is smaller— thus necessitating earlier surgery to repair the aorta in these individuals. In addition to the aortic surgery she needed at the time of her Loeys Dietz syndrome diagnosis, Allison, now 28, has had four other surgeries. She has CT scans every three months as doctors keep an eye on her descending aorta, which is dissected. Sadly, Allison’s father never had the benefit of getting the right diagnosis. He passed away in 2006 at the age of 46 as a result of a descending aortic dissection. This was just one year after Loeys Dietz syndrome was first described by Bart Loeys, MD, and Hal Dietz, MD, at Johns Hopkins. Now she is getting the right treatment for her correct diagnosis. Without genetic testing, she realizes the situation would be very different. Allison is confident that she will make it past 46. She has been on beta-blockers since the age of 6. And now she is also getting the right treatment for her diagnosis. Without genetic testing, she realizes the situation would be very different. For more information on genetic testing, please visit the patient resources section at Marfan.org. The Marfan Blog also has updated information on genetic testing in Marfan and related disorders.

ALLISON, BACK ROW WITH HAT, AND HER FAMILY AT THE FOUNDATION’S 2016 PASADENA WALK FOR VICTORY. THEY WALKED IN MEMORY OF HER DAD, FRANK.

Marfan syndrome and the related disorders, such as Loeys Dietz and Ehlers Danlos syndromes, share many of the same features and, as a result, require some of the same treatments. However, there are important differences too, as Allison Marin, of Oakland, learned just in time to save her life. For nearly 20 years, Allison had been diagnosed with Marfan syndrome. Both she and her father were diagnosed after he had an aortic dissection. Allison was in first grade at the time and, looking back, she acknowledged that she had some of the outward features of Marfan. But, as she got older, she didn’t feel that the characteristics of Marfan described her. “Getting the correct diagnosis felt good. I felt empowered...” At the age of 24, circumstances led her to seek a new cardiologist. Her new heart doctor suggested she get genetic testing. The result: Loeys Dietz syndrome. “Getting the correct diagnosis felt good. I felt empowered and could take charge of what I actually have,” said Allison. “But, there was a lot for me to learn about Loeys Dietz syndrome and it was scary, too, because, when I got the

8 Marfan.org