Fibromuscular dysplasia - Symptoms and causes

Fibromuscular Dysplasia is a condition characterized by abnormal cell growth in the walls of the body's medium-sized arteries. This is a non-atherosclerotic and non-inflammatory disease, meaning it is not caused by plaque buildup or inflammation. 

The abnormal development, known as fibroplasia, can cause the arteries to narrow (stenosis), bulge (aneurysm), or tear (dissection). FMD can affect any artery, but is most commonly found in the renal arteries, which supply blood to the kidneys, and the carotid and vertebral arteries

(supply blood to the brain). In many cases, more than one artery is affected.

Who's at risk?

• Gender: Women have a much higher risk of developing FMD
• Age: The condition is most frequently diagnosed in people between the ages of 25 & 50
• Smoking: Current or even former smokers are at a greater risk
• Genetics: A family history of FMD or other arterial diseases may increase susceptibility

Recognizing the Symptoms

General and Head/Neck-Related Symptoms

• High blood pressure (hypertension), which may be difficult to control
• Headaches or migraines
• A pulsing or whooshing sound in the ears (pulsatile tinnitus)
• Dizziness or a spinning sensation (vertigo)
• Neck pain
• A "whooshing" sound in the neck (bruit) that a doctor can hear with a stethoscope
• Chronic fatigue

Neurological Symptoms

• Symptoms related to transient ischemic attack or a stroke
• Unexplained numbness in the face, arm, or leg, often on one side
• Speech and comprehension difficulties
• Sudden vision changes in one or both eyes
• Drooping eyelid and a smaller pupil in one eye (Horner's syndrome)

Body-Related Symptoms

• Discomfort or pain in the chest
• Abdominal pain, especially after eating
• Unexplained weight loss
• Pain in the legs or arms when walking or being active (claudication)
• Impaired kidney function or kidney failure
• Cold limbs
• Unequal blood pressure in the arms

Diagnosing Fibromuscular Dysplasia

• Physical Examination and History: A physician will start by discussing your personal and family medical history and asking about any symptoms. During the physical exam, the doctor may use a stethoscope to listen for a characteristic "whooshing" sound, known as a bruit, over the arteries in your neck or abdomen. The presence of a bruit suggests turbulent blood flow, which may be caused by a narrowed artery.
• Duplex Ultrasound: This non-invasive test is often one of the first imaging studies performed to produce images of your blood vessels and measure the speed of blood flow. It is a valuable screening tool for examining the carotid arteries in the neck and the renal arteries.
• CT Angiography (CTA): This is a highly effective imaging test for identifying FMD. During a CTA scan, a special contrast dye is injected into a vein, and a powerful X-ray machine creates detailed, cross-sectional images of your arteries. This allows doctors to clearly see the distinctive "string of beads" pattern characteristic of FMD, as well as any aneurysms or dissections.
• Magnetic Resonance Angiography (MRA): Similar to a CTA, an MRA provides images of blood vessels but uses a strong magnetic field & radio waves instead of X-rays. A contrast agent is also typically used to enhance the visibility of the arteries.
• Catheter-Based Angiography: This invasive procedure is considered the gold standard for diagnosing FMD. It provides the most detailed images of the arteries. In this test, a thin, flexible tube (catheter) is inserted into an artery, usually in the groin, & guided to the area being examined. A contrast dye is then injected directly into the artery, and a series of X-rays is taken. This method can detect even subtle signs of FMD and offers the unique advantage of allowing for immediate treatment, such as angioplasty, during the same procedure.

Treatment Approach

Fibromuscular Dysplasia is not a curable condition, but available treatments are successful at managing its symptoms and minimizing the risk of significant health problems.

The primary goals of treatment are to control high blood pressure and prevent events like strokes, artery dissections, or aneurysm ruptures. The specific treatment plan is tailored to the individual, depending on the arteries affected and the severity of the condition.

Medical and Lifestyle Management

For many individuals, especially those with mild symptoms or no symptoms, managing the condition with medication and healthy habits is the first line of defense.

• Blood Pressure Medications: Controlling hypertension is crucial. Several types of drugs are effective, including Angiotensin-Converting Enzyme inhibitors, Angiotensin II Receptor Blockers (ARBs), beta-blockers, and calcium channel blockers. Often, more than one medication may be needed to achieve the target blood pressure.
• Antiplatelet Therapy: To prevent blood clots from forming in the narrowed arteries, a daily low-dose aspirin is commonly recommended for most patients with FMD.
• Smoking Cessation: Quitting smoking is the best step you can take. Smoking damages blood vessels and can worsen the effects of FMD.

Procedures and Surgical Options

When medication is not enough to control blood pressure, or if there is a significant reduction in blood flow causing symptoms, a procedure to open the artery may be necessary.

• Percutaneous Transluminal Angioplasty (PTA): This is the most common and preferred procedure for treating a narrowed artery caused by FMD. It is a minimally invasive technique where a specialist guides a catheter with a small balloon at its tip to the affected artery. The balloon is then inflated, gently stretching the artery wall open to restore normal blood flow. Unlike in procedures for plaque buildup (atherosclerosis), the placement of a stent is rarely necessary in FMD angioplasty.
• Surgical Revascularization: In rare and complex cases where angioplasty is not technically possible or has been unsuccessful, open surgery may be an option. This could involve bypass surgery, where a graft is used to create a new path for blood to flow around the blocked artery.
• Aneurysm Repair: If an aneurysm is present, treatment depends on its size, location, and whether it is causing symptoms. Small, stable aneurysms may simply be monitored with regular imaging tests. Larger or growing aneurysms may need to be repaired through procedures like endovascular coiling or surgical clipping to prevent them from rupturing.

The Long-Term Outlook

For the majority of individuals, the long-term outlook with Fibromuscular Dysplasia is positive. While FMD is a lifelong condition for which there is no cure, it is highly manageable, and most people can lead an everyday, active life.

FMD is not considered a universally progressive disease, meaning that for many patients, the condition does not inherently worsen over time. However, new areas of FMD can develop in different arteries, or complications can arise, which is why consistent, long-term medical follow-up is essential. The primary risks associated with FMD are the development of aneurysms or the occurrence of an arterial tear (dissection), which can lead to serious events like a stroke.

The key to a positive long-term outcome is diligent management. This includes strictly controlling blood pressure with medication, taking antiplatelet therapy such as aspirin if recommended, and adopting a healthy lifestyle, particularly by not smoking. 

Regular surveillance with imaging tests allows your medical team to monitor the affected arteries and proactively address any changes or potential complications, ensuring that FMD has a minimal impact on your overall life expectancy and quality of life.

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