Fibromuscular Dysplasia Clinical Presentation
- Author: James A Wilson, MD, MSc, FRCPC; Chief Editor: Helmi L Lutsep, MD more...
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. 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.
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.
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.
Luscher TF, Lie JT, Stanson AW, et al. Arterial fibromuscular dysplasia. Mayo Clin Proc. 1987 Oct. 62(10):931-52. [Medline].
Gray GH, Young JR, Olin JW. Miscellaneous arterial diseases. Young JR, Olin JW, Bartholomew J, eds. Peripheral Vascular Diseases. 2nd ed. St Louis: Mosby-Yearbook; 1996. 425-40.
James TN. Morphologic characteristics and functional significance of focal fibromuscular dysplasia of small coronary arteries. Am J Cardiol. 1990 Apr 3. 65(14):12G-22G. [Medline].
Campman SC, Holmes JF, Sokolove PE, et al. Pulmonary arterial fibromuscular dysplasia: a rare cause of fulminant lunghemorrhage. Am J Forensic Med Pathol. 2000 Mar. 21(1):69-73. [Medline].
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. 2001 Jan-Feb. 10(1):43-8. [Medline].
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].
Hill LD, Antonius JI. Arterial dysplasia: an important surgical lesion. Arch Surg. 1965 Apr. 90:585-95. [Medline].
Heffelfinger MJ, Holley KE, Havrison EG. Arterial fibromuscular dysplasia studied at autopsy [abstract]. Am J Clin Pathol. 1970. 54:274.
Schievink WI, Bjornsson J. Fibromuscular dysplasia of the internal carotid artery: a clinicopathological study. Clin Neuropathol. 1996 Jan-Feb. 15(1):2-6. [Medline].
Harrison EG Jr, McCormack LJ. Pathologic classification of renal arterial disease in renovascular hypertension. Mayo Clin Proc. 1971 Mar. 46(3):161-7. [Medline].
Stanley JC, Gewertz BL, Bove EL, et al. Arterial fibrodysplasia. Histopathologic character and current etiologic concepts. Arch Surg. 1975 May. 110(5):561-6. [Medline].
Begelman SM, Olin JW. Fibromuscular dysplasia. Curr Opin Rheumatol. 2000 Jan. 12(1):41-7. [Medline].
Reiher L, Pfeiffer T, Sandmann W. Long-term results after surgical reconstruction for renal artery fibromuscular dysplasia. Eur J Vasc Endovasc Surg. 2000 Dec. 20(6):556-9. [Medline].
Mettinger KL, Ericson K. Fibromuscular dysplasia and the brain. I. Observations on angiographic, clinical and genetic characteristics. Stroke. 1982 Jan-Feb. 13(1):46-52. [Medline].
Cloft HJ, Kallmes DF, Kallmes MH, et al. Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia:a reassessment. J Neurosurg. 1998 Mar. 88(3):436-40. [Medline].
Arunodaya GR, Vani S, Shankar SK, et al. Fibromuscular dysplasia with dissection of basilar artery presenting as "locked-in-syndrome". Neurology. 1997 Jun. 48(6):1605-8. [Medline].
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. 1998 Feb. 44(2):406-9. [Medline].
Rushton AR. The genetics of fibromuscular dysplasia. Arch Intern Med. 1980 Feb. 140(2):233-6. [Medline].
Bigazzi R, Bianchi S, Quilici N, et al. Bilateral fibromuscular dysplasia in identical twins. Am J Kidney Dis. 1998 Dec. 32(6):E4. [Medline].
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. 1993 Jun. 91(6):2539-45. [Medline].
McKusick VA. Heritable Disorders of Connective Tissue. 4th ed. St Louis: Mosby-Yearbook; 1972. 382-6.
Schievink WI, Meyer FB, Parisi JE, Wijdicks EF. Fibromuscular dysplasia of the internal carotid artery associated with alpha1-antitrypsin deficiency. Neurosurgery. 1998 Aug. 43(2):229-33; discussion 233-4. [Medline].
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].
Lee EK, Hecht ST, Lie JT. Multiple intracranial and systemic aneurysms associated withinfantile-onset arterial fibromuscular dysplasia. Neurology. 1998 Mar. 50(3):828-9. [Medline].
Kim SD, Park JO, Kim SH, Lee YH, Lim DJ, Park JY. Spontaneous thoracic spinal subdural hematoma associated with fibromuscular dysplasia. J Neurosurg Spine. 2008 May. 8(5):478-81. [Medline].
Mettinger KL. Fibromuscular dysplasia and the brain. II. Current concept of the disease. Stroke. 1982 Jan-Feb. 13(1):53-8. [Medline].
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].
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].
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].
Bragin MA, Cherkasov AP. [Morphogenesis of fibromuscular dysplasia of the renal arteries (anultrastructural study)]. Arkh Patol. 1979. 41(2):46-52. [Medline].
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. 2008 Dec. 109(6):1108-12. [Medline].
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. 1999 Aug. 99(4):163-8. [Medline].
Chiche L, Bahnini A, Koskas F, Kieffer E. Occlusive fibromuscular disease of arteries supplying the brain: results of surgical treatment. Ann Vasc Surg. 1997 Sep. 11(5):496-504. [Medline].
Collins GJ Jr, Rich NM, Clagett GP, et al. Fibromuscular dysplasia of the internal carotid arteries. Clinical experience and follow-up. Ann Surg. 1981 Jul. 194(1):89-96. [Medline].
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. 2000 Nov. 69(5):683-6. [Medline].
Leadbetter WF, Burkland CD. Hypertension in unilateral renal disease. J Urol. 1938. 39:611-26.
Leary MC, Finley A, Caplan LR. Cerebrovascular Complications of Fibromuscular Dysplasia. Curr Treat Options Cardiovasc Med. 2004 Jun. 6(3):237-248. [Medline].
Olin JW. Recognizing and managing fibromuscular dysplasia. Cleve Clin J Med. 2007 Apr. 74(4):273-4, 277-82. [Medline].
Palubinskas AJ, Ripley HR. Fibromuscular hyperplasia in extrarenal arteries. Radiology. 1946. 82:451-55.
Saw J, Ricci D, Starovoytov A, Fox R, Buller CE. Spontaneous coronary artery dissection: prevalence of predisposing conditions including fibromuscular dysplasia in a tertiary center cohort. JACC Cardiovasc Interv. 2013 Jan. 6(1):44-52. [Medline]. [Full Text].
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. 2004 Feb. 33(1):13-8. [Medline].
Wood S. More evidence linking spontaneous coronary dissection and FMD. Medscape Medical News. January 9, 2013. [Full Text].