Diseases of the circulatory system Diseases of the arteries or arterioles; non-atherosclerotic
Fibromuscular Dysplasia (FMD)
The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
For more information on this rare disease, please refer Victor Chang Cardiac Research Institute: Fibromuscular Dysplasia1 and National Organization for Rare Disorders (NORD): Fibromuscular Dysplasia.2
There are currently no known organisations in Australia specifically for this rare disease. If you know of any rare disease organisation/s supporting people living with Fibromuscular Dysplasia (FMD), please let us know via the Contribute page. If you are interested in starting an Australian organisation for people living with FMD, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.
If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or misleading information, please let us know via the Contribute page.
This page has been co-developed with Kate Henderson (Board Director, Rare Voices Australia), and Professor Jason Kovacic (Cardiologist, Heart Research Scientist and Executive Director of the Victor Chang Cardiac Research Institute).
Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Social Services | Mental Health | Other | References
There may be special considerations for the emergency management of individuals living with Fibromuscular Dysplasia (FMD) presenting to emergency departments.
Please note that individuals with FMD may be at risk of spontaneous coronary artery dissection (SCAD)3,4, which is an emergency condition that occurs when there is a sudden tear in a blood vessel in the heart and can lead to reduced blood flow to the heart and a life-threatening heart attack. Persons with FMD may also be at risk of other types of arterial dissection such as dissection of the arteries in the neck that supply the brain (the carotid and vertebral arteries).
Clinical Care Guidelines
First International Consensus on the diagnosis and management of fibromuscular dysplasia3 was published in 2019 by a working committee, including representatives from Australia. It was commissioned by the working group ‘Hypertension and the Kidney’ of the European Society of Hypertension (ESH) and the Society for Vascular Medicine (SVM).
ICD-11: BD41.0 Arterial fibromuscular dysplasia
Fibromuscular Dysplasia (FMD) is a condition in which there is abnormal cell growth in the walls of one or more arteries (blood vessels that carries oxygen-rich blood from the heart to other parts of the body).2,3 This can result in the narrowing of arteries resulting in decreased blood flow (stenosis), enlargement of arteries (aortic aneurysm), tearing of the artery wall (dissections) and twisted or curved arteries (arterial tortuosity).3 FMD is a non-atherosclerotic arterial disease3 as it is not caused by the build-up of cholesterol plaques.
FMD may present as focal FMD (in which the lesions may be in a part of the artery), or multifocal FMD (in which the lesions appear like a “string of beads”)3, which can be detected using an angiogram. It can affect almost all arteries, but the arteries that are most commonly affected are those that supply the kidney with blood (renal arteries) and those in the neck that supply the brain with blood (specifically the carotid and vertebral arteries).1-3 In some cases, arteries in the abdomen (supplying blood to the liver, spleen and intestines) as well as in the extremities (legs and arms) and coronary arteries (to the heart) may be affected.2,3 People with FMD often have more than one type of artery affected (multivessel FMD).
Symptoms of FMD can vary depending on the type of artery that is affected, and how it is affected.1,2 It can range from mild or no symptoms, to severe complications such as stroke and bleeding into or near the brain.1-3 FMD has been mainly diagnosed in women (particularly those middle-aged) but can also affect men and children.2
Personal story shared with Rare Voices Australia: Kate’s Story
More personal stories can be found at Victor Chang Cardiac Research Institute: Fibromuscular Dysplasia (FMD).
Symptoms of Fibromuscular Dysplasia (FMD) can vary between individuals and depend on the type of artery that is affected, and how the artery is affected.1,2
Common symptoms include, but are not limited to, high blood pressure, kidney abnormalities, severe migraine headaches, ‘swooshing’ sounds in the ears timed to heartbeat (pulsatile tinnitus), dizziness, mini-strokes (transient ischemic attack) and strokes.3
There may also be pregnancy-related complications in individuals with FMD.5
Please speak to your medical team to learn more about the symptoms and complications of FMD.
The exact cause of Fibromuscular Dysplasia (FMD) is still being studied, but genetic factors that increase the risk of developing FMD have been identified.1,6 Environmental factors (including tobacco use) and female hormones have also been associated with FMD.3
Diagnosis of Fibromuscular Dysplasia (FMD) involves use of an imaging test like an angiogram to visualise the morphology (appearance) of arteries.
First International Consensus on the diagnosis and management of fibromuscular dysplasia has information about the consensus diagnosis of FMD – the presence of at least one focal or multifocal arterial lesion is required for a FMD diagnosis. The presence of enlarged arteries (aneurysm), tearing of artery wall (dissection), or twisted or curved arteries (tortuosity) is not sufficient for a FMD diagnosis. This resource also provides information on differential diagnosis which is used to determine if the symptoms can be caused by other conditions.
Whilst there is no overall curative treatment, there are available therapies for managing Fibromuscular Dysplasia (FMD). The management strategies may depend on an individual’s diagnosis and specific symptoms and complications. Therapies may involve antiplatelet therapy (such as use of aspirin), medication to treat hypertension and migraines, and specific treatment of aneurysm and arterial dissection.3
Close monitoring and intensive follow-up may be required during pregnancy.3,5 There may also be some lifestyle considerations that can assist in the management of FMD.3
It is best to speak with your medical team to learn more about suitable management strategies for FMD. More information can also be found in this document describing the first international consensus on the diagnosis and management of fibromuscular dysplasia.
Healthcare professionals involved in the treatment of Fibromuscular Dysplasia (FMD) may include general practitioners (GP), cardiologists (heart specialists) and nephrologists (kidney specialists). The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here. 1,2
Victor Chang Cardiac Research Institute’s Vascular Biology Laboratory in Australia is currently conducting research into Fibromuscular Dysplasia (FMD) in the areas of genetics and system biology.
Please visit Australian Clinical Trials to learn about clinical trials for FMD in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for FMD in other countries can be found at ClinicalTrials.gov; there may not be any currently available.
It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.
There is a European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), as well as a United States Registry for Fibromuscular Dysplasia, but there is currently no FMD registry specifically in Australia.
Rare Disease Organisation(s)
There are currently no known organisations for Fibromuscular Dysplasia (FMD) in Australia that is registered and regulated by the Australian Charities and Not-for-profits Commission (ACNC). If you are aware of any registered FMD organisations in Australia, please let us know via the Contribute page.
Facebook Support Group:
Fibromuscular Dysplasia Australasia Advocacy (FMDAA)
FMDAA is a Facebook group that provides peer support to those who have Fibromuscular Dysplasia, particularly those who live in Australia and the Australasian region. It is not an ACNC-regulated organisation or linked to any registered organisation.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Please visit the National and State Services pages.
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Further information on Fibromuscular Dysplasia (FMD) can be found at:
- Mayo Clinic: Fibromuscular dysplasia – Symptoms and causes
- Mount Sinai: Fibromuscular Dysplasia and Heart Disease
- Victor Chang Cardiac Research Institute. Fibromuscular Dysplasia. Accessed July 31, 2023. https://www.victorchang.edu.au/heart-disease/fibromuscular-dysplasia
- National Organization for Rare Disorders (NORD). Fibromuscular Dysplasia. Accessed July 31, 2023. https://rarediseases.org/rare-diseases/fibromuscular-dysplasia/
- Gornik HL, Persu A, Adlam D, Aparicio LS, Azizi M, Boulanger M et al. First International Consensus on the diagnosis and management of fibromuscular dysplasia. Vascular Medicine [Internet]. 2019; 24(2):164-189. Available from: https://doi.org/10.1177/1358863X18821816
- Hayes SN, Kim ESH, Saw J, Adlam D, Arslanian-Engoren C, Economy KE et al. Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement. Circulation [Internet]. 2018;137:e523-557. Available from: https://doi.org/10.1161/CIR.0000000000000564
- Pappaccogli M, Prejbisz A, Ciurică S, Bruno RM, Aniszczuk-Hybiak A, Bracalente I et al. Pregnancy-related complications in patients with Fibromuscular Dysplasia. Hypertension [Internet]. 2020;76:545-553. Available from: https://doi.org/10.1161/HYPERTENSIONAHA.120.15349#d1e1846
- Georges A, Yang M, Berrandou T, Bakker MK, Dikilitas O, Kiando SR et al. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat. Commun. [Internet]. 2021;12:6031. Available from: https://doi.org/10.1038/s41467-021-26174-2
Page Last Updated