Clinical manifestations and diagnosis of fibromuscular dysplasia
- Jeffrey W Olin, DO
Jeffrey W Olin, DO
- Professor of Medicine (Cardiology)
- Icahn School of Medicine at Mount Sinai
Fibromuscular dysplasia (FMD) is a noninflammatory, nonatherosclerotic disorder that leads to arterial stenosis, occlusion, aneurysm, and dissection. It has been observed in nearly every arterial bed. The most frequently involved arteries are the renal and internal carotid arteries, followed by the vertebral, visceral, and external iliac arteries . Disease presentation may vary widely, depending upon the arterial segment involved and the severity of disease.
The epidemiology, pathogenesis, clinical manifestations, and diagnosis of FMD in adults will be reviewed here. The treatment of FMD and the general evaluation for possible renovascular hypertension and stroke are discussed separately. (See "Treatment of fibromuscular dysplasia of the renal arteries" and "Establishing the diagnosis of renovascular hypertension" and "Evaluation of secondary hypertension" and "Clinical diagnosis of stroke subtypes" and "Overview of the evaluation of stroke".)
Patients with fibromuscular dysplasia (FMD) have involvement of the renal arteries approximately 75 to 80 percent of the time and involvement of the extracranial cerebrovascular arteries (eg, carotid and vertebral arteries) approximately 75 percent of the time . Approximately two-thirds of patients have multiple arteries involved [2,3].
Among adults, FMD is more common among females. In most large series, approximately 90 percent of cases are in women. There does not appear to be a female predominance among children with FMD .
In the past, it was believed that FMD was a disease of young women. However, older individuals account for a large proportion of affected patients in several cohorts. As an example, in the United States FMD Registry, the mean age at diagnosis was 52 years, with a range of 5 to 86 years .To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Olin JW, Froehlich J, Gu X, et al. The United States Registry for Fibromuscular Dysplasia: results in the first 447 patients. Circulation 2012; 125:3182.
- Olin JW, Sealove BA. Diagnosis, management, and future developments of fibromuscular dysplasia. J Vasc Surg 2011; 53:826.
- Olin JW, Gornik HL, Bacharach JM, et al. Fibromuscular dysplasia: state of the science and critical unanswered questions: a scientific statement from the American Heart Association. Circulation 2014; 129:1048.
- Estepa R, Gallego N, Orte L, et al. Renovascular hypertension in children. Scand J Urol Nephrol 2001; 35:388.
- Deal JE, Snell MF, Barratt TM, Dillon MJ. Renovascular disease in childhood. J Pediatr 1992; 121:378.
- Piercy KT, Hundley JC, Stafford JM, et al. Renovascular disease in children and adolescents. J Vasc Surg 2005; 41:973.
- Kløw NE, Paulsen D, Vatne K, et al. Percutaneous transluminal renal artery angioplasty using the coaxial technique. Ten years of experience from 591 procedures in 419 patients. Acta Radiol 1998; 39:594.
- Pascual A, Bush HS, Copley JB. Renal fibromuscular dysplasia in elderly persons. Am J Kidney Dis 2005; 45:e63.
- Plouin PF, Perdu J, La Batide-Alanore A, et al. Fibromuscular dysplasia. Orphanet J Rare Dis 2007; 2:28.
- Hendricks NJ, Matsumoto AH, Angle JF, et al. Is fibromuscular dysplasia underdiagnosed? A comparison of the prevalence of FMD seen in CORAL trial participants versus a single institution population of renal donor candidates. Vasc Med 2014; 19:363.
- Mettinger KL. Fibromuscular dysplasia and the brain. II. Current concept of the disease. Stroke 1982; 13:53.
- Mettinger KL, Ericson K. Fibromuscular dysplasia and the brain. I. Observations on angiographic, clinical and genetic characteristics. Stroke 1982; 13:46.
- Cloft HJ, Kallmes DF, Kallmes MH, et al. Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia: a reassessment. J Neurosurg 1998; 88:436.
- UCAS Japan Investigators, Morita A, Kirino T, et al. The natural course of unruptured cerebral aneurysms in a Japanese cohort. N Engl J Med 2012; 366:2474.
- Slovut DP, Olin JW. Fibromuscular dysplasia. N Engl J Med 2004; 350:1862.
- Sauer L, Reilly LM, Goldstone J, et al. Clinical spectrum of symptomatic external iliac fibromuscular dysplasia. J Vasc Surg 1990; 12:488.
- Kolluri R, Ansel G. Fibromuscular dysplasia of bilateral brachial arteries--a case report and literature review. Angiology 2004; 55:685.
- Stanley JC, Gewertz BL, Bove EL, et al. Arterial fibrodysplasia. Histopathologic character and current etiologic concepts. Arch Surg 1975; 110:561.
- Harrison EG Jr, McCormack LJ. Pathologic classification of renal arterial disease in renovascular hypertension. Mayo Clin Proc 1971; 46:161.
- Lüscher TF, Lie JT, Stanson AW, et al. Arterial fibromuscular dysplasia. Mayo Clin Proc 1987; 62:931.
- Savard S, Steichen O, Azarine A, et al. Association between 2 angiographic subtypes of renal artery fibromuscular dysplasia and clinical characteristics. Circulation 2012; 126:3062.
- Olin JW. Is fibromuscular dysplasia a single disease? Circulation 2012; 126:2925.
- Perdu J, Boutouyrie P, Bourgain C, et al. Inheritance of arterial lesions in renal fibromuscular dysplasia. J Hum Hypertens 2007; 21:393.
- Ganesh SK, Morissette R, Xu Z, et al. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features. FASEB J 2014; 28:3313.
- Kim ES, Olin JW, Froehlich JB, et al. Clinical manifestations of fibromuscular dysplasia vary by patient sex: a report of the United States registry for fibromuscular dysplasia. J Am Coll Cardiol 2013; 62:2026.
- Kadian-dodov D, Gornik H, Gu X, et al. Aneurysm and dissection in fibromuscular dysplasia: Findings from the United States Registry for Fibromuscular Dysplasia. J Am Coll Cardiol 2014; 63 (Suppl 1):A2030.
- Touzé E, Oppenheim C, Trystram D, et al. Fibromuscular dysplasia of cervical and intracranial arteries. Int J Stroke 2010; 5:296.
- Kennedy F, Lanfranconi S, Hicks C, et al. Antiplatelets vs anticoagulation for dissection: CADISS nonrandomized arm and meta-analysis. Neurology 2012; 79:686.
- Debette S, Grond-Ginsbach C, Bodenant M, et al. Differential features of carotid and vertebral artery dissections: the CADISP study. Neurology 2011; 77:1174.
- Debette S, Kamatani Y, Metso TM, et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. Nat Genet 2015; 47:78.
- Guill CK, Benavides DC, Rees C, et al. Fatal mesenteric fibromuscular dysplasia: a case report and review of the literature. Arch Intern Med 2004; 164:1148.
- Honjo O, Yamada Y, Kuroko Y, et al. Spontaneous dissection and rupture of common iliac artery in a patient with fibromuscular dysplasia: a case report and review of the literature on iliac artery dissections secondary to fibromuscular dysplasia. J Vasc Surg 2004; 40:1032.
- Michelis KC, Olin JW, Kadian-Dodov D, et al. Coronary artery manifestations of fibromuscular dysplasia. J Am Coll Cardiol 2014; 64:1033.
- O'Connor SC, Gornik HL. Recent developments in the understanding and management of fibromuscular dysplasia. J Am Heart Assoc 2014; 3:e001259.
- Saw J, Ricci D, Starovoytov A, et al. Spontaneous coronary artery dissection: prevalence of predisposing conditions including fibromuscular dysplasia in a tertiary center cohort. JACC Cardiovasc Interv 2013; 6:44.
- Saw J, Poulter R, Fung A, et al. Spontaneous coronary artery dissection in patients with fibromuscular dysplasia: a case series. Circ Cardiovasc Interv 2012; 5:134.
- Tweet MS, Hayes SN, Pitta SR, et al. Clinical features, management, and prognosis of spontaneous coronary artery dissection. Circulation 2012; 126:579.
- Sethi SS, Lau JF, Godbold J, et al. The S curve: a novel morphological finding in the internal carotid artery in patients with fibromuscular dysplasia. Vasc Med 2014; 19:356.
- Olin JW, Piedmonte MR, Young JR, et al. The utility of duplex ultrasound scanning of the renal arteries for diagnosing significant renal artery stenosis. Ann Intern Med 1995; 122:833.
- Vasbinder GB, Nelemans PJ, Kessels AG, et al. Accuracy of computed tomographic angiography and magnetic resonance angiography for diagnosing renal artery stenosis. Ann Intern Med 2004; 141:674.
- Gowda MS, Loeb AL, Crouse LJ, Kramer PH. Complementary roles of color-flow duplex imaging and intravascular ultrasound in the diagnosis of renal artery fibromuscular dysplasia: should renal arteriography serve as the "gold standard"? J Am Coll Cardiol 2003; 41:1305.
- Sabharwal R, Vladica P, Coleman P. Multidetector spiral CT renal angiography in the diagnosis of renal artery fibromuscular dysplasia. Eur J Radiol 2007; 61:520.
- Funabashi N, Komiyama N, Komuro I. Fibromuscular dysplasia in renovascular hypertension demonstrated by multislice CT: comparison with conventional angiogram and intravascular ultrasound. Heart 2003; 89:639.
- Mounier-Vehier C, Lions C, Jaboureck O, et al. Parenchymal consequences of fibromuscular dysplasia renal artery stenosis. Am J Kidney Dis 2002; 40:1138.
- Mounier-Véhier C, Haulon S, Devos P, et al. Renal atrophy outcome after revascularization in fibromuscular dysplasia disease. J Endovasc Ther 2002; 9:605.
- Renal arteries
- Other arteries
- Angiographic classification
- Histologic classification
- CLINICAL MANIFESTATIONS
- Common presenting symptoms and signs
- - Less common manifestations
- When to suspect fibromuscular dysplasia
- DIAGNOSIS OF FIBROMUSCULAR DYSPLASIA
- Confirming the diagnosis
- Choice of diagnostic imaging
- - Duplex ultrasonography
- - Computed tomography angiography
- - Magnetic resonance angiography
- DIFFERENTIAL DIAGNOSIS
- MONITORING DISEASE PROGRESSION
- SUMMARY AND RECOMMENDATIONS