Fibromuscular dysplasia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohsen Basiri M.D.


Fibromuscular dysplasia must be differentiated from other diseases that present clinical features of multisystem involvement, hypertension, aneurysm, and dissection, such as atherosclerotic vascular disease, vasculitis, and Ehlers-Danlos Type IV.

There is a significant delay in diagnosis from the first onset of clinical symptoms/signs of 4.4 years in men and 4.1 years in women. There are several possible reasons for such a delay, including the possibility that FMD is not considered in the differential diagnosis of a patient’s symptoms because of under-recognition of this disorder, as well as the mistaken belief that FMD is predominately a rare disease of young patients, and the fact that many of the signs and symptoms of FMD are nonspecific, such as dizziness, tinnitus, and headaches.

Differentiating X from other Diseases

Fibromuscular dysplasia must be differentiated from atherosclerotic vascular disease. Patients with atherosclerosis often have multiple atherosclerotic risk factors, whereas most individuals with FMD are younger and have fewer risk factors.[1]

In general, Atherosclerosis occurs proximally and usually involves the proximal segment of the arteries, whereas FMD involves the mid or distal portion of the blood vessel. The "string of beads" appearance is remarkable for FMD; and atherosclerotic disease and FMD can be differentiated radiographically.

  • Ehlers-Danlos Type IV may be associated with medial fibroplasia. This differential diagnosis should be considered in patients who have multiple aneurysms in addition to the routine angiographic characteristics of FMD.[2]

Large vessel vasculitis may occur in the absence of changes in acute phase reactants in up to 40% of cases. If histologic proof of FMD or inflammation is not available, distinguishing these entities may at times be difficult because the angiographic appearance can be similar, especially if the intimal fibroplasia is of the multivessel type.

  • Segmental arterial mediolysis is a poorly understood condition characterized by spontaneous dissections, occlusion, or aneurysm formation, which may be difficult to differentiate from FMD. Similar to FMD, segmental arterial mediolysis is a noninflammatory, nonatherosclerotic arterial disease. A definitive diagnosis of segmental arterial mediolysis requires tissue examination. This lesion of segmental arterial mediolysis is characterized by the vacuolar degeneration of smooth muscle cells. [3]
  • Differential diagnosis of FMD Involving the coronary arteries, are cocaine vasculitis, coronary vasospasm, and atherosclerotic plaque.[4]
  • Moyamoya disease (MMD) is a unique disease by bilateral stenosis of the arteries of the circle of Willis and arterial collateral vessels and formation of an abnormal vascular network in the vicinity of the arterial occlusion. The most presentations of this disease are ischemic cerebrovascular events, and hemorrhagic stroke.[5]

Preferred Table

Diseases Clinical manifestations Para-clinical findings Gold standard Additional findings
Symptoms Physical examination
Lab Findings Imaging
Headache Chest pain Cerebrovascular accident Systemic symptoms Hypertension Heart attack motor or/and sensory deficit Arterial occlusion or/and rupture Metabolic disturbances


Inflammatory biomarkers Specific Lab Data Angiography CTA/MRA Duplex


+ +/- +/- - +/- +/- +/- +/- - - + + + Angiography
Atherosclerotic Vascular Disease +/- + + - +/- + +/- +/- + - +/- +/- +/- Angiography Generally older than 60 yrs of age
Takayasu Arteritis + +/- +/- + +/- +/- +/- +/- - + + + + Female, younger than 40 yrs of age, hypertension, absent or decreased pulses, bruits, murmur of aortic regurgitation
Moyamoya disease + - + - + + - + + + Angiography Children with MMD often exhibit abnormalities on EEG. The most characteristic is the "rebuild-up" phenomenon following hyperventilation.
Ehlers-Danlos Type IV +/- +/- +/- - - +/- +/- +/- - - - - - Sequence and deletion/duplication testing of the COL3A1 gene/Analysis of type III procollagen from fibroblasts culture Younger than 40 yrs of age, small body habitus, characteristic facial appearance, translucent skin, easy bruising, hypermobile joints
Segmental arterial mediolysis + - + +/- - - +/- - - + + + Histology A rare conditions in the elderly
Cocaine vasculitis +/- +/- +/- + + +/- - - - + - - - Urine toxicology/MPO-ANCA/PR3-ANCA Men with fewer cardiovascular risk factors


  1. David P. Slovut & Jeffrey W. Olin (2004). "Fibromuscular dysplasia". The New England journal of medicine. 350 (18): 1862–1871. doi:10.1056/NEJMra032393. PMID 15115832. Unknown parameter |month= ignored (help)
  2. Schievink WI, Limburg M. Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. Neurosurgery. 1989;25:482–483.
  3. Jeffrey W. Olin, Heather L. Gornik, J. Michael Bacharach, Jose Biller, Lawrence J. Fine, Bruce H. Gray, William A. Gray, Rishi Gupta, Naomi M. Hamburg, Barry T. Katzen, Robert A. Lookstein, Alan B. Lumsden, Jane W. Newburger, Tatjana Rundek, C. John Sperati & James C. Stanley (2014). "Fibromuscular dysplasia: state of the science and critical unanswered questions: a scientific statement from the American Heart Association". Circulation. 129 (9): 1048–1078. doi:10.1161/01.cir.0000442577.96802.8c. PMID 24548843. Unknown parameter |month= ignored (help)
  4. Katherine C. Michelis, Jeffrey W. Olin, Daniella Kadian-Dodov, Valentina d'Escamard & Jason C. Kovacic (2014). "Coronary artery manifestations of fibromuscular dysplasia". Journal of the American College of Cardiology. 64 (10): 1033–1046. doi:10.1016/j.jacc.2014.07.014. PMID 25190240. Unknown parameter |month= ignored (help)
  5. Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N. Singh, Ronald L. Dalman, James C. Grotta, Ali J. Marian, Eric A. Boerwinkle, Lorraine Q. Frazier, Scott A. LeMaire, Joseph S. Coselli, Anthony L. Estrera, Hazim J. Safi, Sudha Veeraraghavan, Donna M. Muzny, David A. Wheeler, James T. Willerson, Robert K. Yu, Sanjay S. Shete, Steven E. Scherer, C. S. Raman, L. Maximilian Buja & Dianna M. Milewicz (2009). "Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease". American journal of human genetics. 84 (5): 617–627. doi:10.1016/j.ajhg.2009.04.007. PMID 19409525. Unknown parameter |month= ignored (help)

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