Connective Issues Winter 2019

reLATed CondiTionS

GETTING THE RIGHT DIAGNOSIS IS LIFE-SAVING Knowing the difference between Loeys dietz and Marfan is critical

LOEYS DIETZ AND ALLERGIES Loeys dietz syndrome and Marfan syndrome have several overlapping features, but they differ in several ways. According to dr. Hal dietz, who gave a presentation on Loeys dietz syndrome as part of the Foundation’s Virtual Medical Sym- posium Series, allergies are quite common among people living with Loeys dietz syndrome. Food allergies that are most often seen in those with Loeys dietz are similar to those most often seen in the general population. Children may experience allergic reactions to milk, eggs, peanuts, soy, wheat, and fish. Adults more often experi- ence reactions to peanuts, other tree nuts, and fish, especially shell- fish. Seasonal and other allergic conditions, such as asthma and eczema, are more frequently found in Loeys dietz syndrome than in the general population. reactions can range from chronic and low- grade to acute and life-threatening. dr. dietz advises that people with Loeys dietz avoid decongestants, which can stimulate the heart rate and increase blood pressure, resulting in further negative side effects. dr. dietz recommends that indi- viduals discuss their allergic reac- tions with their primary care provider. Those with Loeys dietz syndrome can also benefit from evaluation and management by an allergist. Make sure the allergist is aware of the Loeys dietz diagnosis and current medications. To watch a recording of the presentation from dr. dietz about Loeys dietz syndrome, visit the Virtual Medical Symposium series on the Foundation’s website.

The Snyder family’s experience with connective tissue conditions began in 2001, before Tracy and Chris Snyder, of noblesville, in, were even married. Chris’ father passed away on Thanksgiving from what was later determined to be an aortic dissection. The coroner suggested the family look into Marfan syndrome, in 2005, their daughter, AvaLynn, was born. After several months of ear infec- tions and difficulty with nursing, Ava was given a cleft palate diagnosis. She under- went corrective surgery at 16 months old, but Tracy was still noticing lots of other unsettling things. She had frequent urinary tract infections and fevers, and her little body would “snap, crackle, and pop” during routine movements like diaper changes. Two years later, olivia made her way into the world and appeared, at first, to have not inherited the cleft palate. but as she cried and nursed, her palate opened up, putting olivia on a path of recurrent ear infections and tubes, just like her older sister.

oLiViA (LeFT) And AVA Snyder

At age four, Ava tested negative for Marfan syndrome, a possibility Tracy and Chris had kept in the back of their minds. Her negative test, exceptional height, and hypermobility left Ava with an “unspecified connective tissue disorder” diagnosis. olivia went undiagnosed for a while longer after being dismissed for testing because she did not present classic outward signs of a connective tissue condition. it wasn’t until the family attended the Foundation’s annual conference in 2009 that they got their answers. At our free clinic there, the girls, along with their father, were evaluated. Chris, it turned out, had an aneurysm in his aorta. The clinic doctors, who happened to include dr. bart Loeys, spent hours with the family and gave a clinical diagnosis to all three—Chris, Ava, and olivia—of Loeys dietz syndrome. “The Loeys dietz diagnosis brought peace to our family, “said Tracey. “we knew all along that something was not right and a veil of uncertainty was lifted.“ A year after the diagnosis, Chris underwent valve-sparing root replacement surgery. All three are now under medical care appropriate for Loeys dietz syndrome. Cleft palate is one of the many features that affect people with Loeys Dietz, but not people with Marfan. For more information about differentiating characteristics, please visit Marfan.org.

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