A patient registry is proving invaluable in cataloging the clinical features, symptoms, severity, and outcomes of fibromuscular dysplasia (FMD), a non-inflammatory vascular disease that can cause narrowing of arteries in the carotid (neck) and renal (kidney) arteries, which can result in headache, strokes, and aneurysms.
Registry data revealed that 91 percent of patients are women diagnosed in the prime of their lives. As a result, physicians are developing best practices that can lead to early diagnosis and treatment with the goal of improved outcomes and fewer adverse vascular events. The registry results are published in the June 26, 2012 print edition of Circulation.
"This is the largest study published to date; most previous studies included single case reports or small case series," says Jeffrey W. Olin, DO, the study's lead investigator, and Professor of Medicine and Director of Vascular Medicine and the Vascular Diagnostic Laboratory at Mount Sinai School of Medicine. "Seventy percent of the people in the registry have high blood pressure, 10 percent have had strokes, and 20 percent have had an aneurysm." Additionally, there was an average delay in diagnosis of approximately four years from the onset of symptoms.
The study reviews the first 447 patients enrolled in the FMD registry at nine centers in the United States, including Mount Sinai. The registry has since grown to nearly 600 patients. Until now, the disease has been considered rare, but Dr. Olin thinks that it is probably much more common, and some experts believe it may affect up to 4-5 percent of the female population.
Signs of FMD that physicians and patients should be attentive to include:
high blood pressure in patients under age 35, or uncontrolled high blood pressure at any age;
pulsatile tinnitus, where a sound in the ear sounds like a swooshing and occurs with the heartbeat;
stroke under age 60;
a bruit (abnormal sound when listening with a stethoscope) in the abdomen;
a noise in the neck when the doctor listens to it, called carotid bruit, suggesting there is turbulence to blood flow in the artery;
a dissection or aneurysm of an artery.
A big challenge to diagnosing FMD continues to be that many doctors do not listen to the neck with a stethoscope, says Dr. Olin. Diagnosis is confirmed through imaging, such as ultrasound, CT angiography, MR angiography, or catheter-based angiography.
The cause of FMD is unknown. Treatment varies. For example, when FMD results in high blood pressure, percutaneous balloon angioplasty may be performed. For a tear in an artery (dissection), physicians may recommend stenting the affected artery. In some cases, anti-platelet drugs such as aspirin may be used. Still, investigators say more data are needed to understand the cause of the disease and to treat it optimally.
"If the field is to move forward, we urgently need more funding for genetic research into patients affected and other family members," says Dr. Olin.
Other FMD Patient Registry sites include Cleveland Clinic, University of Michigan, Greenville Hospital System, Mayo Clinic, North Central Heart Institute, Ochsner Health System, Massachusetts General Hospital, University of Virginia, University of California Davis, and Baptist Cardiac and Vascular Institute.
The study was funded by the patient advocacy group, the Fibromuscular Dysplasia Society of America (FMDSA), which can be found at www.fmdsa.org.
About The Mount Sinai Medical Center
The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Mount Sinai School of Medicine. Established in 1968, Mount Sinai School of Medicine is one of the leading medical schools in the United States. The Medical School is noted for innovation in education, biomedical research, clinical care delivery, and local and global community service. It has more than 3,400 faculty in 32 departments and 14 research institutes, and ranks among the top 20 medical schools both in National Institutes of Health (NIH) funding and by U.S. News & World Report.
The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nation's oldest, largest and most-respected voluntary hospitals. In 2011, U.S. News & World Report ranked The Mount Sinai Hospital 16th on its elite Honor Roll of the nation's top hospitals based on reputation, safety, and other patient-care factors. Of the top 20 hospitals in the United States, Mount Sinai is one of 12 integrated academic medical centers whose medical school ranks among the top 20 in NIH funding and U.S. News & World Report and whose hospital is on the U.S. News & World Report Honor Roll. Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 560,000 outpatient visits took place.
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