Have you ever felt sick enough to visit a doctor, only to feel much improved soon after leaving your physician’s office? Receiving an accurate diagnosis often makes us reassured, even before receiving treatment. However, patients with rare diseases sometimes wait several years before discovering what causes their symptoms. Fibromuscular Dysplasia, commonly known as FMD, is a vascular disease often resulting in a delayed diagnosis due to lack of awareness.
What is FMD?
FMD is a non-atherosclerotic, non-inflammatory vascular disease most often affecting the renal and carotid arteries. Although it predominantly affects middle-aged women, the disease can present in men, women, and children of all ages. FMD causes abnormal cell growth in artery walls, most often presenting as a “string of beads.” On an angiogram, you would see sections of bulging and narrowing in the affected arteries.
Sometimes FMD is entirely asymptomatic and is only discovered incidentally. However, carotid FMD often presents with headache and pulsatile tinnitus (a “swooshing” sound in your ears). Renal FMD can cause hypertension due to the narrowing of the renal arteries. Aneurysm, stroke, and carotid or renal artery dissection are also possible.
How are patients diagnosed?
FMD is diagnosed by angiography. Noninvasive techniques such as duplex ultrasound, MRA, and CTA can provide an accurate image of the vessels, but catheter angiography remains the most reliable method for diagnosing FMD. Unfortunately, there is no cure for FMD and the cause is unknown.
What treatment options are available?
While there is no cure, FMD rarely progresses. Some patients only need to be monitored with surveillance of the affected arteries. Your doctor may prescribe medications such as anti-hypertensives or antiplatelet therapy in order to prevent complications. In cases of severe stenosis or events such as stroke and dissection, invasive procedures may be necessary.
What resources are available for patients with FMD?
Emory is one of 14 centers participating in the US registry for Fibromuscular Dysplasia. This registry has enrolled over 1400 patients, and has contributed valuable information to the continuing research on the disease. Not only do hospitals such as Emory provide excellent care from doctors familiar with FMD, but they also allow patients to contribute toward further research and become part of the FMD community. The registry does not require experimental therapies, and all patient data is kept anonymous. Patients only need to provide consent for their medical information to be used in the data analysis. If you have been diagnosed with Fibromuscular Dysplasia, consider enrolling in the registry at your next appointment with Emory Healthcare.
What should I do if I am diagnosed with FMD?
Though many patients experience a variety of symptoms and vascular events, there is a very low mortality associated with FMD. It is a manageable disease, and once diagnosed, most patients are able to better control their symptoms. It is important to make follow-up appointments and continue to monitor your health. The Fibromuscular Dysplasia Society of America is also a good resource for both patients and physicians. FMDSA not only funds the FMD registry, but also holds annual meetings and conferences, and provides information that is both helpful and accessible to patients.
For more information, contact:
Emory University Hospital Midtown: 404-686-4411
Or Theresa Sanders MN, RN: 404-686-3872
Or Bryan Wells, MD: 404-686-8203