Fibromuscular Dysplasia Clinical Presentation

  • Author: James A Wilson, MD, MSc, FRCPC; Chief Editor: Helmi L Lutsep, MD   more...
 
Updated: Apr 4, 2012
 

History

Most patients with craniocervical FMD are asymptomatic. Others report nonspecific problems such as headache, lightheadedness, vertigo, and tinnitus. Neck pain or carotidynia may be an initial presenting symptom due to arterial dissection. The symptoms of stroke can be varied but most often involve the anterior circulation because of the predilection of FMD to affect the extracranial carotid arteries.

Patients may provide a history of transient or permanent neurologic deficits of the face or extremities such as weakness or numbness, or they may experience visual changes or speech difficulties. No particular symptoms are pathognomonic for FMD, and any history compatible with a stroke in younger individuals may indicate underlying FMD. The family history should include information about relatives who have had vascular events at a young age.

One report notes an extremely unfortunate case of locked-in syndrome due to autopsy-proven basilar artery FMD.[13] FMD may be complicated by stroke because of direct effects of craniocervical stenosis, dissection, or intracranial aneurysm, or the indirect effects of concomitant renovascular hypertension.

Symptoms compatible with a sentinel bleed, namely a sudden explosive headache followed later by neck stiffness, may signify the existence of an aneurysm, which in turn, may be associated with FMD.

A review of symptoms may provide clues of noncraniocervical FMD. Long-standing involvement of the renal arteries may lead to a history of hypertension. Rarely, abdominal pains, and even a history of ischemic bowel, may indicate mesenteric or visceral artery involvement. Vascular compromise of the limbs by FMD lesions may cause ischemic symptoms such as intermittent leg claudication. A case of FMD associated with spinal subdural hematoma has been reported.[22]

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Physical

Because of the broad possibilities of neurologic dysfunction due to stroke caused by FMD, a thorough neurologic examination should be performed. Findings may include anything from cranial nerve deficits to weakness, numbness, and coordination difficulties.

Sensitive signs of motor dysfunction such as pronator drift and plantar responses may yield deficits when formal power assessment does not. The neurovascular examination would not be complete without auscultation for carotid and vertebral artery bruits. If a headache history is provided, assessment for meningismus (eg, nuchal rigidity, Kernig sign, Brudzinski sign) may prove positive.

Because of the systemic nature of FMD, the general physical examination should include a search for signs of renal, visceral, and limb arterial involvement. These signs may include hypertension, decreased peripheral pulses, and even asymmetric limb pressures. Bruits may be found on auscultation of the renal, abdominal, iliac, or subclavian arteries.

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Causes

The cause of FMD is unknown, despite some speculations related to its associations with some rare genetic conditions and predilection for young white females. Strokes can be caused by the FMD stenoses themselves, generally by thromboembolic events. Even without trauma, FMD lesions predispose the afflicted individual to arterial dissection, which in turn can cause embolic events or, rarely, local thrombosis and massive hemispheric stroke. Hypertension due to renovascular FMD may be a risk factor for lacunar and large vessel infarcts and even intracerebral hemorrhage.

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Contributor Information and Disclosures
Author

James A Wilson, MD, MSc, FRCPC  Neurologist and Clinical Neurophysiologist, Oconee Neurology Services

James A Wilson, MD, MSc, FRCPC, is a member of the following medical societies: American Academy of Neurology and Ontario Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Richard L Hughes, MD  Professor of Neurology, University of Colorado at Denver School of Medicine; Chief, Division of Neurology, Denver Health Medical Center

Richard L Hughes, MD is a member of the following medical societies: American Academy of Neurology, American Heart Association, American Medical Association, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Jeffrey L Saver, MD, FAHA, FAAN  Professor of Neurology, Director, UCLA Stroke Center, University of California, Los Angeles, David Geffen School of Medicine

Jeffrey L Saver, MD, FAHA, FAAN is a member of the following medical societies: American Academy of Neurology, American Heart Association, American Neurological Association, and National Stroke Association

Disclosure: University of California The University of California Regents receive funds for consulting services on clinical trial design provided to Telecris, Ev3, and CoAxia. Consulting

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Howard S Kirshner, MD  Professor of Neurology, Psychiatry and Hearing and Speech Sciences, Vice Chairman, Department of Neurology, Vanderbilt University School of Medicine; Director, Vanderbilt Stroke Center; Program Director, Stroke Service, Vanderbilt Stallworth Rehabilitation Hospital; Consulting Staff, Department of Neurology, Nashville Veterans Affairs Medical Center

Howard S Kirshner, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Heart Association, American Medical Association, American Neurological Association, American Society of Neurorehabilitation, National Stroke Association, Phi Beta Kappa, and Tennessee Medical Association

Disclosure: Nothing to disclose.

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Chief Editor

Helmi L Lutsep, MD  Professor and Vice Chair, Department of Neurology, Oregon Health and Science University School of Medicine; Associate Director, Oregon Stroke Center

Helmi L Lutsep, MD is a member of the following medical societies: American Academy of Neurology and American Stroke Association

Disclosure: Co-Axia Consulting fee Review panel membership; AGA Medical Consulting fee Review panel membership; Concentric Medical Consulting fee Review panel membership

References

  1. Luscher TF, Lie JT, Stanson AW, et al. Arterial fibromuscular dysplasia. Mayo Clin Proc. Oct 1987;62(10):931-52. [Medline].

  2. Gray GH, Young JR, Olin JW. Miscellaneous arterial diseases. In: Young JR, Olin JW, Bartholomew J, eds. Peripheral Vascular Diseases. 2nd ed. St Louis: Mosby-Yearbook; 1996:425-40.

  3. James TN. Morphologic characteristics and functional significance of focal fibromuscular dysplasia of small coronary arteries. Am J Cardiol. Apr 3 1990;65(14):12G-22G. [Medline].

  4. Campman SC, Holmes JF, Sokolove PE, et al. Pulmonary arterial fibromuscular dysplasia: a rare cause of fulminant lunghemorrhage. Am J Forensic Med Pathol. Mar 2000;21(1):69-73. [Medline].

  5. Maresi E, Becchina G, Ottoveggio G, et al. Arrhythmic sudden cardiac death in a 3-year-old child with intimal fibroplasia of coronary arteries, aorta, and its branches. Cardiovasc Pathol. Jan-Feb 2001;10(1):43-8. [Medline].

  6. Luscher TF, Keller HM, Imhof HG, et al. Fibromuscular hyperplasia: extension of the disease and therapeutic outcome. Results of the University Hospital Zurich Cooperative Study on Fibromuscular Hyperplasia. Nephron. 1986;44 Suppl 1:109-14. [Medline].

  7. Hill LD, Antonius JI. Arterial dysplasia: an important surgical lesion. Arch Surg. Apr 1965;90:585-95. [Medline].

  8. Heffelfinger MJ, Holley KE, Havrison EG. Arterial fibromuscular dysplasia studied at autopsy [abstract]. Am J Clin Pathol. 1970;54:274.

  9. Schievink WI, Bjornsson J. Fibromuscular dysplasia of the internal carotid artery: a clinicopathological study. Clin Neuropathol. Jan-Feb 1996;15(1):2-6. [Medline].

  10. Mettinger KL, Ericson K. Fibromuscular dysplasia and the brain. I. Observations on angiographic, clinical and genetic characteristics. Stroke. Jan-Feb 1982;13(1):46-52. [Medline].

  11. Cloft HJ, Kallmes DF, Kallmes MH, et al. Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia:a reassessment. J Neurosurg. Mar 1998;88(3):436-40. [Medline].

  12. Stanley JC, Gewertz BL, Bove EL, et al. Arterial fibrodysplasia. Histopathologic character and current etiologic concepts. Arch Surg. May 1975;110(5):561-6. [Medline].

  13. Arunodaya GR, Vani S, Shankar SK, et al. Fibromuscular dysplasia with dissection of basilar artery presenting as "locked-in-syndrome". Neurology. Jun 1997;48(6):1605-8. [Medline].

  14. Eachempati SR, Sebastian MW, Reed RL 2nd. Posttraumatic bilateral carotid artery and right vertebral artery dissections in a patient with fibromuscular dysplasia: case report and review of the literature. J Trauma. Feb 1998;44(2):406-9. [Medline].

  15. Rushton AR. The genetics of fibromuscular dysplasia. Arch Intern Med. Feb 1980;140(2):233-6. [Medline].

  16. Bigazzi R, Bianchi S, Quilici N, et al. Bilateral fibromuscular dysplasia in identical twins. Am J Kidney Dis. Dec 1998;32(6):E4. [Medline].

  17. Tromp G, Wu Y, Prockop DJ, et al. Sequencing of cDNA from 50 unrelated patients reveals that mutations inthe triple-helical domain of type III procollagen are an infrequent causeof aortic aneurysms. J Clin Invest. Jun 1993;91(6):2539-45. [Medline].

  18. McKusick VA. Heritable Disorders of Connective Tissue. 4th ed. St Louis: Mosby-Yearbook; 1972:382-6.

  19. Schievink WI, Meyer FB, Parisi JE, Wijdicks EF. Fibromuscular dysplasia of the internal carotid artery associated with alpha1-antitrypsin deficiency. Neurosurgery. Aug 1998;43(2):229-33; discussion 233-4. [Medline].

  20. de Bray JM, Marc G, Pautot V, Vielle B, Pasco A, Lhoste P. Fibromuscular dysplasia may herald symptomatic recurrence of cervical artery dissection. Cerebrovasc Dis. 2007;23(5-6):448-52. [Medline].

  21. Lee EK, Hecht ST, Lie JT. Multiple intracranial and systemic aneurysms associated withinfantile-onset arterial fibromuscular dysplasia. Neurology. Mar 1998;50(3):828-9. [Medline].

  22. Kim SD, Park JO, Kim SH, Lee YH, Lim DJ, Park JY. Spontaneous thoracic spinal subdural hematoma associated with fibromuscular dysplasia. J Neurosurg Spine. May 2008;8(5):478-81. [Medline].

  23. Mettinger KL. Fibromuscular dysplasia and the brain. II. Current concept of the disease. Stroke. Jan-Feb 1982;13(1):53-8. [Medline].

  24. de Monyé C, Dippel DW, Dijkshoorn ML, Tanghe HL, van der Lugt A. MDCT detection of fibromuscular dysplasia of the internal carotid artery. AJR Am J Roentgenol. April 2007;188(4):W367-9. [Medline].

  25. Sabharwal R, Vladica P, Coleman P. Multidetector spiral CT renal angiography in the diagnosis of renal artery fibromuscular dysplasia. Eur J Radiol. March 2007;61(3):520-7. [Medline].

  26. Willoteaux S, Faivre-Pierret M, Moranne O, Lions C, Bruzzi J, Finot M, et al. Fibromuscular dysplasia of the main renal arteries: comparison of contrast-enhanced MR angiography with digital subtraction angiography. Radiology. December 2006;241(3):922-9. [Medline].

  27. Bragin MA, Cherkasov AP. [Morphogenesis of fibromuscular dysplasia of the renal arteries (anultrastructural study)]. Arkh Patol. 1979;41(2):46-52. [Medline].

  28. Harrison EG Jr, McCormack LJ. Pathologic classification of renal arterial disease in renovascular hypertension. Mayo Clin Proc. Mar 1971;46(3):161-7. [Medline].

  29. Begelman SM, Olin JW. Fibromuscular dysplasia. Curr Opin Rheumatol. Jan 2000;12(1):41-7. [Medline].

  30. Kimura H, Hosoda K, Hara Y, Kohmura E. A very unusual case of fibromuscular dysplasia with multiple aneurysms of the vertebral artery and posterior inferior cerebellar artery. J Neurosurg. Dec 2008;109(6):1108-12. [Medline].

  31. Reiher L, Pfeiffer T, Sandmann W. Long-term results after surgical reconstruction for renal artery fibromuscular dysplasia. Eur J Vasc Endovasc Surg. Dec 2000;20(6):556-9. [Medline].

  32. Van Damme H, Sakalihasan N, Limet R. Fibromuscular dysplasia of the internal carotid artery. Personal experience with 13 cases and literature review. Acta Chir Belg. Aug 1999;99(4):163-8. [Medline].

  33. Chiche L, Bahnini A, Koskas F, Kieffer E. Occlusive fibromuscular disease of arteries supplying the brain: results of surgical treatment. Ann Vasc Surg. Sep 1997;11(5):496-504. [Medline].

  34. Collins GJ Jr, Rich NM, Clagett GP, et al. Fibromuscular dysplasia of the internal carotid arteries. Clinical experience and follow-up. Ann Surg. Jul 1981;194(1):89-96. [Medline].

  35. Finsterer J, Strassegger J, Haymerle A, Hagmüller G. Bilateral stenting of symptomatic and asymptomatic internal carotid artery stenosis due to fibromuscular dysplasia. J Neurol Neurosurg Psychiatry. Nov 2000;69(5):683-6. [Medline].

  36. Leadbetter WF, Burkland CD. Hypertension in unilateral renal disease. J Urol. 1938;39:611-26.

  37. Leary MC, Finley A, Caplan LR. Cerebrovascular Complications of Fibromuscular Dysplasia. Curr Treat Options Cardiovasc Med. Jun 2004;6(3):237-248. [Medline].

  38. Olin JW. Recognizing and managing fibromuscular dysplasia. Cleve Clin J Med. Apr 2007;74(4):273-4, 277-82. [Medline].

  39. Palubinskas AJ, Ripley HR. Fibromuscular hyperplasia in extrarenal arteries. Radiology. 1946;82:451-55.

  40. Vuong PN, Desoutter P, Mickley V. Fibromuscular dysplasia of the renal artery responsible for renovascular hypertension: a histological presentation based on a series of 102 patients. Vasa. Feb 2004;33(1):13-8. [Medline].

 
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Digital subtraction angiogram of the right internal carotid artery demonstrates an irregular extracranial portion that is consistent with FMD.
Conventional angiogram of the left carotid artery demonstrates a 1.5-cm, long, smooth, severe stenosis of the extracranial internal carotid artery. Note that the artery is not completely occluded and a thin continuous string of contrast is present along the length of the stenosis. This smooth tubular stenosis is suggestive of the intimal fibroplasia form of FMD but can be observed with any of the subtypes.
Cerebral angiogram of the left carotid artery territory demonstrates a long, irregular stenosis with a string-of-beads appearance along the entire extracranial length of the internal carotid artery (ICA). This is consistent with the most common medial dysplasia form of fibromuscular dysplasia. Also note similar involvement of the first 3 cm of the external carotid artery (ECA). Such extensive ICA involvement, as well as ECA involvement, is atypical. Note sparing of the carotid bulb.
Lateral view of a right carotid angiogram demonstrates multiple stenoses of FMD of the internal carotid artery. The string of beads appearance is suggestive of the medial dysplasia form of FMD.
Anteroposterior view of a right carotid angiogram demonstrates FMD of the extracranial portion of the right internal carotid artery.
Angiogram of the descending aorta demonstrates the stenoses of FMD in the renal arteries bilaterally.
Angiogram of the right vertebral artery demonstrating irregular stenoses of fibromuscular dysplasia at the level of C2-3.
Illustration of the operative approach of graduated dilatation of the internal carotid artery (ICA). The common carotid and external carotid arteries are cross-clamped, and the superior thyroid artery is clipped while the ICA is isolated, opened, and dilated with progressively larger dilators. This technique has been shown to be successful in the management of medically refractive FMD stenoses.
Illustration depicts the intraluminal appearance of graduated dilatation of the stenoses of FMD. The dilator is passed into the vessel and opens the bandlike narrowings.
Illustration depicts the locations of FMD lesions, which differentiate regions with typical and atypical angiographic appearances of this disease.
Digital subtraction angiography of the left internal carotid artery distribution demonstrates a large 1.5-cm-diameter aneurysm of the right anterior communicating artery. Aneurysms may be associated with systemic vasculopathies such as FMD.
Small infarct in woman with fibromuscular dysplasia from dissected vertebral artery. An incidental aneurysm, or ovoid diverticula, is noted in the supraclinoid left internal carotid artery.
Small infarct in woman with fibromuscular dysplasia from dissected vertebral artery. An incidental aneurysm, or ovoid diverticula, is noted in the supraclinoid left internal carotid artery. Dissected vertebral artery.
Small infarct in woman with fibromuscular dysplasia from dissected vertebral artery. An incidental aneurysm, or ovoid diverticula, is noted in the supraclinoid left internal carotid artery. Internal carotid angiogram.
 
 
 
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