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Fibromuscular dysplasia (FMD) is a complex disease that is most commonly seen in women, with systemic
presentation that may include stenosis, aneurysm or dissection most commonly in
the renal and carotid arteries, migraine-like headaches, dizziness, and
tinnitus or a swooshing sound in the ears. Low bone density, joint laxity and degenerative
disease in the spine also have been linked to the disease. FMD is considered a
rare disease; however, it is also believed to be underdiagnosed.
FMD may present at any age, but is more commonly discovered when the patient is between the ages of 20 and 60 years old. Patients may be asymptomatic and achieve diagnosis only upon an incidental finding, or patients may suffer serious and debilitating events, depending on the severity of their disease.
FMD is considered a rare disease; however, it is also believed to be underdiagnosed. In the U.S., a disease is defined as rare if it is believed to affect fewer than 200,000 Americans, according to the National Organization of Rare Disorders. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000. FMD has no cure and no specifically approved FDA treatment. Patient care currently focuses on managing symptoms, monitoring vascular involvement, and surgically repairing vascular damage.
What causes FMD?
It is unknown what causes FMD. Researchers believe that the disease may have hormonal and genetic influences. There are no biomarkers to identify who is at risk or who has the disorder.
When was FMD first discovered?
"Fibromuscular dysplasia (FMD) was first described in 1938 in the renal arteries as a cause of arterial hypertension in a patient with unilateral kidney disease who had “an intraluminal mass of smooth muscle” (Leadbetter and Burkland, 1938; Sandok, 1989; Slovut and Olin, 2004). More than two decades later, McCormack et al. (1958, 1966) described the renal artery pathology of FMD. For many years, fibromuscular disease was assumed to be limited to the renal arteries. Palubinskas and Ripley (1964) were the first to report the angiographic appearance of FMD in extrarenal arteries. Their patient had involvement of the celiac artery and an angiographic lesion in an internal carotid artery (ICA). A year later, Javid (1965) first furnished histological proof of FMD in a carotid artery (Sandok, 1983). Connett and Lansche (1965) were the first to describe the radiological appearance of carotid artery FMD in a patient in whom the disease was confirmed pathologically," according to Uncommon Causes of Stroke, Cambridge University Press.
How common is FMD?
FMD is considered a rare disease. In the U.S., a disease is defined as rare if it is believed to affect fewer than 200,000 Americans, according to the National Organization of Rare Disorders. A disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000. Research extrapolates that the disease may be found in as much as 5 percent of the U.S. population of women over 18—or 5 to 8 million women; however, at this time these figures are indicated as estimates only, as reported in the February 2012 Endovascular Today article “Renal Artery Fibromuscular Update.” Researchers are not in consensus regarding this estimation.
What type of FMD is most common?
Most cases of FMD are of the medial fibroplasia type, which commonly is described as giving the affected artery a string of beads appearance upon angiogram. The next most common type of FMD is intimal fibroplasia. Adventitial fibroplasia is uncommon.
What is the most common clinical presentation of FMD?
Hypertension is the most common clinical presentation of FMD when patients’ renal arteries are affected. This hypertension often presents without other obvious causes and is resistant to control via medication. Note that diagnosis of FMD may occur at any age.
As reported by researchers at Universidade Federal da Paraíba in the article “Fibromuscular dysplasia: a differential diagnosis of vasculitis,” published in Rev Bras Reumatol, “FMD can manifest as a systemic vascular disease, mimicking vasculitis. This understanding is important because vasculitis and FMD can both have a severe clinical course, but require distinct treatments. The differential diagnosis can be difficult in face of an atypical clinical presentation or lack of histopathologic confirmation. Isolated cases of FMD have been reported mimicking the following conditions: polyarteritis nodosa, Ehlers-Danlos's syndrome, Alport's syndrome, pheochromocytoma, Marfan's syndrome, and Takayasu's arteritis.”
According to research by Ganesh et al published in the Federation of American Societies for Experimental Biology Journal in early 2014, "Recent data have suggested that FMD represents a systemic vasculopathy, with the finding of a clinical manifestation of the disease in multiple arterial beds in at least one-third of patients. However, systematic evaluation for clinical and musculoskeletal features has not previously been performed. Our results indicate that FMD is a systemic disease with clinical features that extend beyond arterial pathology to include low bone density, joint laxity, and degenerative disease in the spine."
How is FMD evaluated?
Catheter-based angiography is the most accurate imaging method. Other less invasive imagining methods such as duplex ultrasound, magnetic resonance angiography (MRA) and computed tomography angiography (CTA) also may be considered. Doctors are advised not to rely only on imaging for diagnosis, as presentations may be subtle. According to research published in Endovascular Today, “Although there have been significant strides made during the past several years toward educating physicians and patients about the disease, FMD still remains frequently underdiagnosed, misdiagnosed, and inappropriately treated” (February 2012).
What treatment is available for FMD?
Angioplasty, stenting, and reconstructive vascular surgery all are used in managing the effects of the disease. Patients also may be prescribed blood pressure and/or antiplatelet medications. “Most patients today acquire the diagnosis via an imaging study and can be treated with medication. This strategy can minimize symptoms but does not ‘cure’ the disease,” says Dr. Bruce H. Gray, D.O., of the Greenville Hospital System University Medical Center and Chief Operating Officer of the American Board of Vascular Medicine.
According to research by Ganesh et al, "anecdotal evidence supports the rationale for therapy for FMD with pharmacologic agents that are known to decrease vascular TGF-B expression; however, it is premature to make this treatment recommendation without a clinical trial. Further studies to identify the underlying molecular defect in FMD will be needed to clarify these issues."
FMD is considered a rare disease; however, it is also believed to be underdiagnosed. In the U.S., a disease is defined as rare if it is believed to affect fewer than 200,000 Americans, according to the National Organization of Rare Disorders. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000. FMD has no cure and no specifically approved FDA treatment. Patient care currently focuses on managing symptoms, monitoring vascular involvement, and surgically repairing vascular damage.
What causes FMD?
It is unknown what causes FMD. Researchers believe that the disease may have hormonal and genetic influences. There are no biomarkers to identify who is at risk or who has the disorder.
When was FMD first discovered?
"Fibromuscular dysplasia (FMD) was first described in 1938 in the renal arteries as a cause of arterial hypertension in a patient with unilateral kidney disease who had “an intraluminal mass of smooth muscle” (Leadbetter and Burkland, 1938; Sandok, 1989; Slovut and Olin, 2004). More than two decades later, McCormack et al. (1958, 1966) described the renal artery pathology of FMD. For many years, fibromuscular disease was assumed to be limited to the renal arteries. Palubinskas and Ripley (1964) were the first to report the angiographic appearance of FMD in extrarenal arteries. Their patient had involvement of the celiac artery and an angiographic lesion in an internal carotid artery (ICA). A year later, Javid (1965) first furnished histological proof of FMD in a carotid artery (Sandok, 1983). Connett and Lansche (1965) were the first to describe the radiological appearance of carotid artery FMD in a patient in whom the disease was confirmed pathologically," according to Uncommon Causes of Stroke, Cambridge University Press.
How common is FMD?
FMD is considered a rare disease. In the U.S., a disease is defined as rare if it is believed to affect fewer than 200,000 Americans, according to the National Organization of Rare Disorders. A disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000. Research extrapolates that the disease may be found in as much as 5 percent of the U.S. population of women over 18—or 5 to 8 million women; however, at this time these figures are indicated as estimates only, as reported in the February 2012 Endovascular Today article “Renal Artery Fibromuscular Update.” Researchers are not in consensus regarding this estimation.
What type of FMD is most common?
Most cases of FMD are of the medial fibroplasia type, which commonly is described as giving the affected artery a string of beads appearance upon angiogram. The next most common type of FMD is intimal fibroplasia. Adventitial fibroplasia is uncommon.
What is the most common clinical presentation of FMD?
Hypertension is the most common clinical presentation of FMD when patients’ renal arteries are affected. This hypertension often presents without other obvious causes and is resistant to control via medication. Note that diagnosis of FMD may occur at any age.
As reported by researchers at Universidade Federal da Paraíba in the article “Fibromuscular dysplasia: a differential diagnosis of vasculitis,” published in Rev Bras Reumatol, “FMD can manifest as a systemic vascular disease, mimicking vasculitis. This understanding is important because vasculitis and FMD can both have a severe clinical course, but require distinct treatments. The differential diagnosis can be difficult in face of an atypical clinical presentation or lack of histopathologic confirmation. Isolated cases of FMD have been reported mimicking the following conditions: polyarteritis nodosa, Ehlers-Danlos's syndrome, Alport's syndrome, pheochromocytoma, Marfan's syndrome, and Takayasu's arteritis.”
According to research by Ganesh et al published in the Federation of American Societies for Experimental Biology Journal in early 2014, "Recent data have suggested that FMD represents a systemic vasculopathy, with the finding of a clinical manifestation of the disease in multiple arterial beds in at least one-third of patients. However, systematic evaluation for clinical and musculoskeletal features has not previously been performed. Our results indicate that FMD is a systemic disease with clinical features that extend beyond arterial pathology to include low bone density, joint laxity, and degenerative disease in the spine."
How is FMD evaluated?
Catheter-based angiography is the most accurate imaging method. Other less invasive imagining methods such as duplex ultrasound, magnetic resonance angiography (MRA) and computed tomography angiography (CTA) also may be considered. Doctors are advised not to rely only on imaging for diagnosis, as presentations may be subtle. According to research published in Endovascular Today, “Although there have been significant strides made during the past several years toward educating physicians and patients about the disease, FMD still remains frequently underdiagnosed, misdiagnosed, and inappropriately treated” (February 2012).
What treatment is available for FMD?
Angioplasty, stenting, and reconstructive vascular surgery all are used in managing the effects of the disease. Patients also may be prescribed blood pressure and/or antiplatelet medications. “Most patients today acquire the diagnosis via an imaging study and can be treated with medication. This strategy can minimize symptoms but does not ‘cure’ the disease,” says Dr. Bruce H. Gray, D.O., of the Greenville Hospital System University Medical Center and Chief Operating Officer of the American Board of Vascular Medicine.
According to research by Ganesh et al, "anecdotal evidence supports the rationale for therapy for FMD with pharmacologic agents that are known to decrease vascular TGF-B expression; however, it is premature to make this treatment recommendation without a clinical trial. Further studies to identify the underlying molecular defect in FMD will be needed to clarify these issues."
FMD by the numbers*
Migraine-like Headache—53 percent of patients
Dizziness—28 percent of patients
Migraine-like Headache—53 percent of patients
Dizziness—28 percent of patients
Tinnitus—30 percent of patients
Extracranial Carotid Involvement—62 percent of patients
Vertebral Artery Involvement—19 percent of patients
Carotid Dissection—14 percent of patients
Carotid Aneurysm—4 percent of patients
Mesenteric Artery Involvement—12 percent of patients
Renal Artery Involvement— 69 percent of patients
Renal Artery Aneurysm—5 percent of patients
Symptoms
Symptoms of fibromuscular dysplasia vary. In addition to the vascular events, headache, dizziness, tinnitus, low bone density, joint laxity, and degenerative spine problems that have been found to be associated with disease, symptoms may manifest based on which vasculature the disease impacts.
* Percentages as reported by Dr. Jeffery W. Olin at the 2012 International Symposium on Endovascular Therapy based on baseline observations from the U.S. Registry for Fibromusuclar Dysplasia; study group comprised of 339 patients.
Symptoms
Symptoms of fibromuscular dysplasia vary. In addition to the vascular events, headache, dizziness, tinnitus, low bone density, joint laxity, and degenerative spine problems that have been found to be associated with disease, symptoms may manifest based on which vasculature the disease impacts.
______________________
THE BODY AND DISEASE COMPLICATIONS
Understanding the kidneys and how they work
Understanding the cardiovascular system
High blood pressure dangers: Hypertension's effects on your body
Understanding stroke and transient ischemic attacks
What is an aneurysm?
What is an arterial dissection?
About dizziness
About Pain
______________________
FMD CHAT'S NEEDYMEDS PRESCRIPTION DRUG DISCOUNT CARD
The drug discount card is not an insurance plan, but provides patients with discounted rates on prescriptions. When this card is presented with a valid prescription to a pharmacist, up to an 80 percent discount may be provided. This card can't be used in combination with government programs or private insurance. For more information about NeedyMeds, visit needymeds.org. For more information about the DDC program, visit drugdiscountcardinfo.com or call 888.602.2978. You do not need to be diagnosed with fibromuscular dysplasia in order to use this card.
______________________
UNDERSTANDING ONLINE HEALTH
Evaluating Internet Health Information: A Tutorial
U.S. National Library of Medicine and National Institutes of Health
MedlinePlus Guide to Healthy Web Surfing
U.S. National Library of Medicine and National Institutes of Health
Medical Dictionary
U.S. National Library of Medicine and National Institutes of Health
______________________
CAREGIVING
Taking Care of YOU: Self-Care for Family Caregivers
Family Caregiver Alliance
MedlinePlus Caregiving
U.S. National Library of Medicine and National Institutes of Health
National Caregiving Library
FamilyCare America, Inc.
Palliative Care vs. Hospice
National Hospice and Palliative Care Organization
______________________
RARE DISEASE POLICY
Socio-economic burden of rare diseases: A systematic review of cost of illness evidence
THE BODY AND DISEASE COMPLICATIONS
Understanding the kidneys and how they work
Understanding the cardiovascular system
High blood pressure dangers: Hypertension's effects on your body
Understanding stroke and transient ischemic attacks
What is an aneurysm?
What is an arterial dissection?
About dizziness
About Pain
______________________
FMD CHAT'S NEEDYMEDS PRESCRIPTION DRUG DISCOUNT CARD
CLICK IMAGE TO DOWNLOAD
The drug discount card is not an insurance plan, but provides patients with discounted rates on prescriptions. When this card is presented with a valid prescription to a pharmacist, up to an 80 percent discount may be provided. This card can't be used in combination with government programs or private insurance. For more information about NeedyMeds, visit needymeds.org. For more information about the DDC program, visit drugdiscountcardinfo.com or call 888.602.2978. You do not need to be diagnosed with fibromuscular dysplasia in order to use this card.
______________________
UNDERSTANDING ONLINE HEALTH
Evaluating Internet Health Information: A Tutorial
U.S. National Library of Medicine and National Institutes of Health
MedlinePlus Guide to Healthy Web Surfing
U.S. National Library of Medicine and National Institutes of Health
Medical Dictionary
U.S. National Library of Medicine and National Institutes of Health
______________________
CAREGIVING
Taking Care of YOU: Self-Care for Family Caregivers
Family Caregiver Alliance
MedlinePlus Caregiving
U.S. National Library of Medicine and National Institutes of Health
National Caregiving Library
FamilyCare America, Inc.
Palliative Care vs. Hospice
National Hospice and Palliative Care Organization
______________________
RARE DISEASE POLICY
Socio-economic burden of rare diseases: A systematic review of cost of illness evidence
Healthy Policy
EURORDIS - Rare Disease Policy (Europe)
______________________
ADVANCE PLANNING
End-of-Life Decision Making
Family Caregiver Alliance
National Healthcare Decisions Day
Advance Directives
National Hospice and Palliative Care Organization
______________________
INTERNATIONAL RARE DISEASE ORGANIZATIONS
Australia
SMILE
Austria
Pro Rare Austria
End-of-Life Decision Making
Family Caregiver Alliance
National Healthcare Decisions Day
Advance Directives
National Hospice and Palliative Care Organization
______________________
INTERNATIONAL RARE DISEASE ORGANIZATIONS
SMILE
Austria
Pro Rare Austria
Belgium
Rare Disease Organisation Belgium (RaDiOrg Belgium)
Bulgaria
National Alliance of People with Rare Diseases (NAPRD)
Canada
Canadian Organization for Rare Disorders
China
China Dolls Center for Rare Disorders
Croatia
Hrvatska Udruga Bolesnika S Rijetkim Bolestima
Europe
EURORDIS
ORPHANET
Denmark
Sjældne Diagnoser
Rare Disease Organisation Belgium (RaDiOrg Belgium)
Bulgaria
National Alliance of People with Rare Diseases (NAPRD)
Canada
Canadian Organization for Rare Disorders
China
China Dolls Center for Rare Disorders
Croatia
Hrvatska Udruga Bolesnika S Rijetkim Bolestima
Europe
EURORDIS
ORPHANET
Denmark
Sjældne Diagnoser
France
Alliance Maladies Rares
Germany
Allianz Chronischer seltener Erkrankungen
Greece
Πανελλήνια Ένωση Σπανίων Παθήσεων
Hungary
Hungarian Federation of People with Rare and Congenital Diseases
Iran
RADOIR
Ireland
Genetic and Rare Disorders Organisation-Ireland
Italy
Federazione Italiana Malattie Rare (UNIAMO)
Luxembourg
Luxembourg Association for Neuromuscular and Rare Diseases
Neatherlands
VSOP
Romania
Romanian National Alliance for Rare Diseases (RONARD)
Russia
Russia Rare Disease Working Group
Russian Federation
National Association of Rare Diseases Patients (GENETICS)
Spain
FEDER
Sweden
Riksförbundet Sällsynta diagnoser
Alliance Maladies Rares
Germany
Allianz Chronischer seltener Erkrankungen
Greece
Πανελλήνια Ένωση Σπανίων Παθήσεων
Hungary
Hungarian Federation of People with Rare and Congenital Diseases
Iran
RADOIR
Ireland
Genetic and Rare Disorders Organisation-Ireland
Italy
Federazione Italiana Malattie Rare (UNIAMO)
Luxembourg
Luxembourg Association for Neuromuscular and Rare Diseases
Neatherlands
VSOP
Romania
Romanian National Alliance for Rare Diseases (RONARD)
Russia
Russia Rare Disease Working Group
Russian Federation
National Association of Rare Diseases Patients (GENETICS)
Spain
FEDER
Sweden
Riksförbundet Sällsynta diagnoser
Switzerland
Alliance Maladies Rares Suisse
Portugal
Federaçao Portuguesa de Doenças Raras
Aliança Portuguesa de Associações das Doenças Raras
United Kingdom
Rare Disease UK
United States
National Organization for Rare Disorders
NIH Office of Rare Disease Reasearch
Alliance Maladies Rares Suisse
Portugal
Federaçao Portuguesa de Doenças Raras
Aliança Portuguesa de Associações das Doenças Raras
United Kingdom
Rare Disease UK
United States
National Organization for Rare Disorders
NIH Office of Rare Disease Reasearch
