Fibromuscular Dysplasia (FMD)

Fibromuscular Dysplasia (FMD) is a rare, non-inflammatory vascular disease characterized by abnormal cell growth within the walls of medium-sized arteries. This growth can lead to various vascular complications, including stenosis (narrowing), aneurysms (enlargement), and dissections (tearing) of the arteries. FMD primarily affects the arteries that supply the kidneys (renal arteries) and the brain (carotid and vertebral arteries), though it can involve almost any artery in the body.

Types of FMD
FMD can present in several histological forms, the most common of which include:

Medial Fibroplasia: The most common type, characterized by alternating areas of stenosis and aneurysmal dilation, giving the arteries a "string of beads" appearance on imaging.

Intimal Fibroplasia: Less common, involving smooth, concentric narrowing of the arteries, which can be difficult to distinguish from atherosclerosis.

Perimedial Fibroplasia: Characterized by the development of fibrous tissue in the outer layer of the artery wall, leading to narrowing without the "string of beads" pattern.

Adventitial Fibroplasia: The rarest form, where fibrosis occurs in the outermost layer of the artery, leading to external compression of the artery.

Symptoms and Complications of FMD
The symptoms of FMD depend on which arteries are affected and the extent of the disease. Common symptoms include:

Renal Artery Involvement:

Hypertension (High Blood Pressure): The most common symptom, resulting from decreased blood flow to the kidneys.
Flank Pain: Pain in the sides of the body due to kidney artery involvement.
Reduced Kidney Function: In severe cases, impaired blood flow can lead to kidney damage.
 

Carotid and Vertebral Artery Involvement:
Headaches: Persistent or severe headaches, often referred to as migraines.
Pulsatile Tinnitus: A rhythmic whooshing sound in the ears, in time with the heartbeat.
Dizziness and Lightheadedness: Due to compromised blood flow to the brain.
Stroke or Transient Ischemic Attack (TIA): A significant risk in severe cases of FMD.

 

Mesenteric Arteries:
Abdominal Pain: Pain after eating, caused by reduced blood flow to the digestive system.
Unintentional Weight Loss: Due to pain or reduced food intake.

 

Coronary Arteries:
Chest Pain (Angina): A result of reduced blood flow to the heart muscle.
Myocardial Infarction (Heart Attack): Although rare, FMD can involve the coronary arteries and lead to heart attack.

 

Risk Factors and Causes of FMD
The exact cause of FMD remains unclear, but several factors are believed to contribute:

Genetic Factors: There is some evidence to suggest a genetic predisposition to FMD, though specific genetic markers have not been definitively identified. Family history may play a role in the development of the condition.
Hormonal Influence: The condition predominantly affects women, with up to 90% of cases occurring in females, particularly those of childbearing age. This suggests a potential link to female hormones.
Environmental Factors: Smoking is a known risk factor that may exacerbate the condition. Other potential environmental factors are still under investigation.
Age and Gender: While FMD can occur at any age, it is most commonly diagnosed in women between the ages of 30 and 50.

How is FMD Diagnosed?
Diagnosing FMD requires a careful evaluation by a healthcare provider, usually a vascular specialist or nephrologist, and involves several steps:

Initial Clinical Evaluation
Medical History and Physical Exam: A detailed medical history and physical examination focusing on symptoms related to vascular issues.

 

Imaging Studies
Doppler Ultrasound: Often used as an initial test, particularly for the renal arteries. It measures blood flow and can detect narrowing or abnormal flow patterns.
CT Angiography (CTA): Provides detailed images of the blood vessels and is useful for detecting the characteristic "string of beads" appearance in affected arteries.
Magnetic Resonance Angiography (MRA): Uses magnetic fields to create detailed images of blood vessels. MRA is non-invasive and does not require radiation.
Conventional Angiography: Considered the gold standard for diagnosing FMD. It involves the injection of contrast dye into the arteries, followed by X-ray imaging. This test is more invasive but provides the most accurate assessment of arterial abnormalities.

Other Diagnostic Tools
Blood Pressure Monitoring: Continuous or 24-hour monitoring may be used to assess blood pressure control, particularly if renal arteries are affected.
Laboratory Tests: Blood tests may be done to assess kidney function and rule out other conditions.

Treatment Options for FMD
There is no cure for FMD, but treatment aims to manage symptoms, reduce the risk of complications, and improve the patient’s quality of life.

Medications
Antihypertensive Medications: Commonly prescribed to manage high blood pressure, particularly in cases involving the renal arteries. ACE inhibitors, ARBs, beta-blockers, and calcium channel blockers are often used.
Antiplatelet Therapy: Low-dose aspirin or other antiplatelet medications may be recommended to reduce the risk of stroke or TIA in patients with carotid artery involvement.
Cholesterol-Lowering Medications: Statins may be prescribed to manage cholesterol levels and reduce cardiovascular risk.

Interventional Procedures
Percutaneous Transluminal Angioplasty (PTA): A minimally invasive procedure that involves the insertion of a balloon catheter to widen narrowed arteries. Stents are not typically used in FMD but may be considered in certain cases.
Surgery: In cases of severe aneurysm or dissection, or if PTA is not successful, surgical options may include arterial bypass or resection of the affected segment.

Lifestyle Modifications
Smoking Cessation: Smoking can worsen FMD and lead to further vascular damage. Quitting smoking is crucial for managing the condition.
Diet and Exercise: Maintaining a healthy diet and regular exercise routine can help manage blood pressure and overall cardiovascular health.
Regular Monitoring: Ongoing monitoring of blood pressure and vascular health is essential. Regular follow-up appointments with a healthcare provider are necessary to manage the condition effectively.

Living with FMD
Managing FMD involves a combination of medical treatment, lifestyle adjustments, and emotional support. Patients often face challenges due to the unpredictability and complexity of the condition, but with the right care and support, they can lead fulfilling lives.

Support Networks
FMD Support Group: Invisible Illnesses Inc offers a dedicated support group for individuals with FMD and their families. This group provides a safe space to share experiences, receive emotional support, and learn from others who are managing the condition.
Counseling Services: Access to professional counseling can help patients and their families cope with the emotional impact of living with a chronic illness.
Online Communities: Joining online forums and social media groups can provide additional support and information, connecting patients with others around the world.

Education and Awareness
Educational Workshops: Invisible Illnesses Inc hosts workshops and seminars to educate patients, healthcare providers, and the community about FMD.
Awareness Campaigns: We are committed to raising awareness about FMD through public campaigns, media outreach, and participation in health-related events.

Research and Advocacy
Invisible Illnesses Inc is actively involved in advocating for more research and funding for FMD. We work with medical professionals, researchers, and policy-makers to improve understanding of the condition and develop better diagnostic and treatment options.

Ongoing Research
Genetic Studies: Research is ongoing to identify potential genetic markers associated with FMD, which could lead to earlier diagnosis and targeted treatments.
Clinical Trials: Participation in clinical trials may be an option for some patients, offering access to new and experimental therapies.
Patient Registries: Invisible Illnesses Inc encourages patients to participate in registries and studies that track the natural history of FMD and outcomes of different treatment approaches.

Frequently Asked Questions
What are the long-term effects of FMD?
FMD can lead to complications like high blood pressure, stroke, or aneurysms. However, with proper management and monitoring, many patients live with minimal symptoms and avoid severe complications.

Is FMD hereditary?
The exact hereditary nature of FMD is not fully understood. While there may be a genetic component, no specific genes have been conclusively linked to the condition.

Can FMD be cured?
There is currently no cure for FMD, but treatments are available to manage symptoms and reduce the risk of complications.

How can I support someone with FMD?
Being supportive involves educating yourself about the condition, offering emotional support, and helping them manage their treatment and lifestyle changes.

How to Get Involved
Invisible Illnesses Inc offers several ways for individuals and the community to get involved:

Join Our Support Group: Become a member of our FMD support group to connect with others and receive ongoing support.
Volunteer: Participate in our events and awareness campaigns, or assist in running our support services.
Donate: Your contributions help us continue our work in providing resources, support, and advocacy for those affected by FMD.

Contact Us
For more information about FMD, our support services, or how to get involved, please contact us:

Phone: (08) 6140 3977
Email: enquiries@invisibleillnesses.org.au

Join Our Online Community
Stay connected with us through our social media channels and online forums. We regularly post updates on FMD research, upcoming events, and support resources.

Invisible Illnesses Inc is committed to supporting individuals with Fibromuscular Dysplasia and other invisible illnesses. Together, we can raise awareness, provide support, and improve the lives of those affected.