ANN ARBOR, Mich. – 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.
Through her advocacy, Michigan joins the nation in recognizing March 11 as Fibromuscular Dysplasia Awareness Day, to encourage awareness and research of the underdiagnosed vascular disease that primarily affects women in their 30s and 40s.
“Many rare diseases are not well-known by the public or medical community,” says State Rep. Pat Somerville who sponsored the resolution. “Individuals and families affected by fibromuscular dysplasia often experience problems such as a sense of isolation, difficulty in obtaining accurate and timely diagnosis and optimal treatment options.”
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.
“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.”
An FMD specialty clinic at the U-M provides direct patient care and the opportunity to bridge clinical care and research. The U-M’s Michigan Cardiovascular Outcomes Research and Reporting Program supports an international FMD clinical registry, initiated by James Froehlich, M.D., M.P.H., which has collected clinical, imaging and genetics data from nearly 1,000 FMD patients.
Vascular surgeon James Stanley, M.D., a director of the U-M Frankel Cardiovascular Center, described characteristics of FMD in the 1970s and receives international referrals for surgical management of FMD.
Through collaboration, scientists are zeroing in on the molecular and genetic basis of the disease 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.
"By working together with many institutions and studying hundreds of patients and their unique clinical and biological traits we have the chance to move the field forward, seeking better preventive, diagnostic and treatment solutions,” says cardiologist Kim Eagle, M.D., a CVC director and founding director of MCORRP. “The ultimate goal is a care strategy that is personalized for every patient and family wrestling with this rare but potentially lethal problem.
“Having our state legislature recognize this need exemplifies the partnership that must exist between government and academic institutions if we are to walk together toward a brighter future for our citizens," he says.
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's very common to have a five-year delay from the beginning of symptoms to diagnosis.
Mace is executive director of Fibromuscular Dysplasia Society of America, an organization she founded in 2003. She has shared her story with national stroke groups and at international cardiovascular research meetings.
“With each door that opened, I found a new opportunity to focus attention on FMD as a public health issue,” she says.
FMDSA patient resources available at http://www.fmdsa.org/
Watch “Tomorrow’s Answers Start Here” to learn more about cardiovascular research at the University of Michigan.