In December 2004, Cheryl Bailey sought treatment for a simple bladder infection. Soon after that, she found out she had something far more serious to deal with: fibromuscular dysplasia (FMD), a rare vascular disorder.

"When I went in for the bladder infection, I also had a physical exam," Bailey explains. "When my nurse practitioner did some listening around, she heard bruits (abnormal sounds over a blood vessel) in my neck. "

Bailey was sent to a vascular specialist who, after a series of testing, diagnosed her with FMD of the carotid arteries in the neck.

What is FMD?
FMD is a vascular disorder caused by abnormal cellular growth in an artery wall. This abnormal growth can lead to beading or narrowing of arteries, which can reduce blood flow to an organ. FMD can also lead to aneurysms (or ballooning) of arteries or a condition known as dissection when an artery develops a tear. The most common arteries that are affected by FMD are the arteries to the brain (carotid and vertebral arteries) and the arteries to the kidneys (renal arteries).

The condition is uncommon, and there's a lot about it that's still unknown, such as what causes it. "Every healthcare provider I see says the same thing: 'You're my first patient with FMD;' it's not very comforting," says Bailey. "I was very discouraged that so little is known about it, so I began volunteering for the Fibromuscular Dysplasia Society of America (FMDSA)."

Fortunately, the medical community is learning a lot more about FMD thanks to patients like Bailey who volunteer for research on the condition.

Heather L. Gornik, MD, Medical Director of the Non- Invasive Vascular Laboratory at Cleveland Clinic Heart and Vascular Institute, is one of a group of physicians responsible for compiling patient information that is helping health care professionals learn more about the causes, risks, symptoms and treatment of FMD.

"We are working in coordination with the FMDSA, which has sponsored a multi-center registry (now comprised of nine U.S. centers) that is compiling data on FMD patients," explains Dr. Gornik. "The United States FMD Registry presented its first abstracts of about 300 patients at the American College of Cardiology meeting in 2011."

Surprising findings
Data from the patient registry revealed information that challenges some of the previous conceptions about FMD:

• Susceptibility: Researchers found that patients with FMD are generally older than was initially thought. "The average age of diagnosis of patients with FMD in the registry is in the 50s, but it can present across the lifespanÑfrom childhood up to the 80s," says Dr. Gornik.
• Affected arteries: "Another thing we're learning that's new is that FMD involving the arteries to the brain, such as the carotid and vertebral arteries, is probably as common as kidney artery involvement," Dr. Gornik explains. Previously, it was believed that FMD in the kidney artery was much more prevalent than other artery locations.
• Symptoms: The findings confirmed and revealed common symptoms of FMD, which include headaches (particularly migraine), high blood pressure, swishing noise in the ears and dizziness, says Dr. Gornik. "We also noticed that a significant number of patients present with a dissection (tear in an artery)," she continues.
• Genetic factors: An area that continues to stump researchers is the impact of genetics on FMD. "Something we learned that is very interesting is that a significant number of FMD patients don't necessarily have a family member with FMD, but there seems to be a high presence of family members who had other vascular conditions, such as an aneurysm or even stroke," explains Dr. Gornik. "So, we think there may be something familial with FMD even though we have yet to really determine the specifics of that relationship."

Next steps
Working with colleagues at the Cleveland Clinic, Mayo Clinic and Mt. Sinai Medical Center, Dr. Gornik is collecting blood samples of FMD patients to further study the genetics of the condition. It's work that's ongoing, she says. Treatments for the condition are also continually improving. "The primary treatment is still mainly balloon angioplasty," says Dr. Gornik. "In terms of angioplasty, we're also using new techniques, such as intravascular ultrasound, to assess the severity of blockages. But I think mostly we're learning to be smarter about whom we select for angioplasty, because many FMD patients can be managed with medication alone."

While experts continue learning about FMD, Bailey, who is now vice president of the FMDSA, is doing her part to increase awareness of the condition. "My goal is to speak on FMD and continue to promote awareness to all health care providers," she says. "My prayer is that one day there will be total awareness of what FMD is, what causes this disease and how to cure and prevent it in future generations."