Pamela Mace was moved to become executive director of the Fibromuscular Dysplasia Society of America after her diagnosis with FMD.
Racing toward an answer
U-M research moves closer to demystifying fibromuscular dysplasia
issue 23 | spring 2015
Pamela Mace loves to run. Whether training for a marathon or jogging for the joy of it, this 52-year-old is always ready to hit the pavement. She is forever looking forward.
Mace is particularly looking forward to a day when the world better understands fibromuscular dysplasia (FMD), a rare blood vessel disease that presents no unique symptoms, which explains why doctors rarely look for it and often misdiagnose it.
To speed up the race toward FMD recognition, Mace took the reins as executive director of the Fibromuscular Dysplasia Society of America (FMDSA), a nonprofit organization dedicated to building FMD awareness, education and research. Mace's devotion to FMD comes from her heart, since she herself has the disease — and she's determined to make life better for tomorrow's FMD patients.
FMD presents a characteristic "string of beads" in images of the affected arteries.
Race Against Time
Mace's story began in 2000, when the then-37-year-old woke up with a nasty headache. As the day progressed she sensed that something was seriously wrong, and by the time she was admitted to the emergency room, her fears were confirmed. She'd suffered a transient ischemic attack.
She eventually learned that she'd suffered dissections in the lining of the arteries that supply blood to her brain. The reason for the dissections remained a mystery for another year, until finally she was officially diagnosed with FMD. Mace eventually had stents implanted in her carotid arteries and restarted anticoagulation therapy.
Bridging Research and Care
As of today, there is no known cause or cure for FMD and no protocol to screen for it or evaluate and treat patients already diagnosed with the disease. However, there's been some progress in our understanding of the condition. FMD causes one or more arteries — most commonly the renal, carotid or vertebral arteries, although it can occur in the abdomen and extremities — to have abnormal cell development in the artery wall. In more than one-half of FMD patients there will be evidence of FMD in more than one artery. The most common form of FMD presents a characteristic "string of beads" in images of the affected arteries.
"The causes of FMD are not yet understood," stresses Santhi K. Ganesh, M.D., assistant professor of Cardiovascular Medicine at U-M and FMDSA Medical Advisory Board member. However, Ganesh and a team of U-M scientists are in pursuit of FMD's molecular and genetic basis, as well as disease triggers. She has engaged several international collaborating centers with clinical experts in FMD to facilitate the research. In addition, Ganesh leads an FMD specialty clinic that provides patient care as well as a bridge to emerging research.
As of today, there is no known cause or cure for FMD and no protocol to screen for it or evaluate and treat patients already diagnosed with the disease.
Ganesh and her research team — whom she refers to as "some of the world's best genetic experts" — are currently investigating a hypothesis that FMD is a systemic disease with a genetic predisposition in at least some families. However, even with similar genetics, a relative may have different artery involvement, different disease severity or not develop FMD at all.
"So many people on board"
In addition to Ganesh's research, U-M's Michigan Cardiovascular Outcomes Research and Reporting Program supports an FMD clinical registry, initiated by James Froehlich, M.D., M.P.H. (See sidebar.) Interest in FMD at University of Michigan goes back to the 1970s when vascular surgeon James Stanley, M.D., first described characteristics of the disease. Throughout his career, Stanley has consulted on surgical management of FMD.
There are no guidelines to screen for FMD, but it is recommended that those previously diagnosed have a one-time brain-to-pelvis screening of the arterial tree. Mace sees more recommendations on the horizon, saying, "FMDSA is motivated, patients are motivated, and researchers are motivated. There are so many people on board all over the world helping us to find answers."