Rare Nephrology News

Disease Profile

Fibromuscular dysplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Fibromuscular dysplasia of arteries; FMD

Categories

Blood Diseases; Heart Diseases; Kidney and Urinary Diseases

Summary

Fibromuscular dysplasia (FMD) is a condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Some people with FMD experience no symptoms of the disease while others may experience high blood pressure, dizziness or vertigo, chronic headache, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. Potential severe complications include arterial aneurysms and dissections, strokesubarachnoid hemorrhage (when a brain aneurysm ruptures), and mesenteric ischemia.[1][2][3] FMD is most often seen in people age 25 to 50 years and affects women more often than men.[1][2] The cause of FMD is unknown, however, genetic and hormonal factors may be involved.[4] Familial cases of FMD are rare.[3] Treatment is based on the arteries affected and the progression and severity of the disease.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Aortic dissection
Tear in inner wall of large artery that carries blood away from heart
0002647
Arterial fibromuscular dysplasia
0005313
Autosomal dominant inheritance
0000006
Intermittent claudication
0004417
Myocardial infarction
Heart attack
0001658
Renovascular hypertension
0100817
Stroke
0001297

Cause

The cause of FMD is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions.[2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

    • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Fibromuscular dysplasia. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. NINDS Fibromuscular Dysplasia Information Page. National Institute of Neurological Disorders and Stroke Website. June 23, 2011; https://www.ninds.nih.gov/disorders/fibromuscular_dysplasia/fibromuscular_dysplasia.htm. Accessed 8/9/2016.
            2. Olin J. About FMD. In: Gornik H, Mace P. Fibromuscular Dysplasia Society of America. July 2011; https://www.fmdsa.org/fmd_info/what_is_fmd.
            3. Di Monaco S, Georges A, Lengelé JP, Vikkula M, Persu A. Genomics of Fibromuscular Dysplasia. Int J Mol Sci. May 21, 2018; 19(5):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983654/.
            4. Pr Xavier JEUNEMAITRE, Pr Pierre-François PLOUIN. Fibromuscular dysplasia of arteries. Orphanet. December 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=336.

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