After her diagnosis with fibromuscular dysplasia, Pam Mace, of Grosse Ille, says she felt lonely and frustrated managing a disease with no cure and that few doctors knew anything about.
Patients with FMD often have malformed arteries that appear on imaging like a 'string of beads,' putting them at risk for artery blockages, hypertension, stroke and aneurysm.
Through her advocacy, the nation recognizes Fibromuscular Dysplasia Awareness Day, to encourage awareness and research of the underdiagnosed disease that primarily affects women in their 30s and 40s.
"The cause for FMD is not well understood, but there appears to be a familial genetic component," says Santhi Ganesh, M.D., a specialist in cardiology and genetics at the University of Michigan. "However, even with similar genetics, a relative may have different artery involvement, different disease severity, or not develop FMD at all."
Ganesh investigates the causes and attributes of FMD which leads to abnormal cell development in the arterial wall. She leads a specialty clinic for FMD, providing direct patient care and the opportunity to bridge clinical care and research.
A team of scientists at the University of Michigan Health System is zeroing in on the vascular disease to understand the molecular and genetic basis of FMD and what factors trigger its onset.
It appears that the cellular response to injury may be a key factor that causes the disease to manifest in certain patients.
"Further investigation into the triggering mechanism may lead to therapies that could dramatically change the outlook for FMD patients," says Ganesh, who serves on the medical advisory board of Fibromuscular Dysplasia Society of America (FMDSA).
The U-M's Michigan Cardiovascular Outcomes Research and Reporting Program supports an international FMD clinical registry which has collected clinical, imaging and genetics data from nearly 1,000 FMD patients.
Some researchers now believe FMD is an underdiagnosed disease with data suggesting 4 percent to 5 percent of the population affected.
For Mace, a registered nurse, it was a year after she suffered a transient ischemic stroke, or mini stroke, at age 37, and developed two aneurysms, that she would be diagnosed with FMD. It is very common to have a five-year delay from the beginning of symptoms to diagnosis.
She now serves as executive director of FMDSA and has shared her story with national stroke groups and at international research meetings.
"With each door that opened, I found a new opportunity to focus attention on FMD as a public health issue," she says.
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