Fibromuscular dysplasia differential diagnosis: Difference between revisions

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__NOTOC__
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{{Fibromuscular dysplasia}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Fibromuscular_dysplasia]]
{{CMG}}; {{AE}}  
{{CMG}}; {{AE}}{{M.B}}  


==Overview==
==Overview==
*Fibromuscular dysplasia  must be differentiated from other diseases that present  clinical features of [[multisystem involvement]], [[hepertension]],[[aneurysm]], and [[dissection]], such as [[atherosclerotic vascular disease]], [[vasculitis]], and [[Ehlers-Danlos Type IV]].
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 syndrome|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 was not considered in the differential diagnosis of a patient’s symptoms because of under-recognition of this disorder, the mistaken belief that FMD is predominately a disease of young patients, and the fact that many of the signs and symptoms of FMD are nonspecific, such as dizziness, tinnitus, and headaches.
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==
==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.
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 factor]]s.<ref>{{Cite journal
[[Atherosclerosis]] usually involves the [[ostial]] or [[proximal]] [[segment]] of the [[arteries]], whereas FMD involves the middle or distal segment. In addition, the "string of beads" appearance is unique to FMD. Thus, atherosclerotic disease and FMD can typically be distinguished radiographically.
| author = [[David P. Slovut]] & [[Jeffrey W. Olin]]
*There have been reports of [[Ehlers-Danlos]] Type IV being associated with medial fibroplasia. This should be suspected in patients who have multiple [[aneurysms]] in addition to the usual angiographic findings of FMD.
| title = Fibromuscular dysplasia
[[Ehlers-Danlos]] may occur in the absence of any prior bleeding manifestations. If this disease is suspected, a skin biopsy should be obtained and sent for [[fibroblast]] [[culture]].
| journal = [[The New England journal of medicine]]
*Multisystem involvement is observed in both [[vasculitis]] and FMD. Those with FMD generally will not have associated [[anemia]], [[thrombocytopenia]], or abnormalities of [[acute phase reactants]]. An exception is in the setting of an [[acute infarction]].  
| volume = 350
[[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.
| issue = 18
*Segmental arterial mediolysis is a poorly understood condition characterized by [[spontaneous dissection]](s), [[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]].  
| pages = 1862–1871
| year = 2004
| month = April
| doi = 10.1056/NEJMra032393
| pmid = 15115832
}}</ref>
 
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 syndrome|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.<ref>Schievink WI, Limburg M. Angiographic abnormalities mimicking
fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type
IV. Neurosurgery. 1989;25:482–483.</ref>
 
*Multisystem involvement is observed in both [[vasculitis]] and FMD. Those with FMD generally will not have associated [[anemia]], [[thrombocytopenia]], or abnormalities of [[Acute phase reactant|acute phase reactants]].  
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 [[Dissection|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]]. <ref>{{Cite journal
| author = [[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]]
| title = Fibromuscular dysplasia: state of the science and critical unanswered questions: a scientific statement from the American Heart Association
| journal = [[Circulation]]
| volume = 129
| issue = 9
| pages = 1048–1078
| year = 2014
| month = March
| doi = 10.1161/01.cir.0000442577.96802.8c
| pmid = 24548843
}}</ref>


*Differential diagnosis of FMD Involving the [[[coronary arteries]], are cocaine vasculitis, [[coronary vasospasm]], and atherosclerotic plaque.
*Differential diagnosis of FMD Involving the coronary arteries, are cocaine vasculitis, [[coronary vasospasm]], and atherosclerotic plaque.<ref>{{Cite journal
| author = [[Katherine C. Michelis]], [[Jeffrey W. Olin]], [[Daniella Kadian-Dodov]], [[Valentina d'Escamard]] & [[Jason C. Kovacic]]
| title = Coronary artery manifestations of fibromuscular dysplasia
| journal = [[Journal of the American College of Cardiology]]
| volume = 64
| issue = 10
| pages = 1033–1046
| year = 2014
| month = September
| doi = 10.1016/j.jacc.2014.07.014
| pmid = 25190240
}}</ref>


*Moyamoya disease (MMD) is a unique disease by bilateral [[stenosis]] of the arteries of the circle of Willis and arterial [[collateral vessels]]. The most presenttions of this disease are ischemic cerebovascular evevnts, and hemorrhagic stroke.<ref>{{Cite journal
*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.<ref>{{Cite journal
  | author = [[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]]
  | author = [[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]]
  | title = Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
  | title = Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
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{|
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|Diseases
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases
| colspan="6" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Clinical manifestations'''
| colspan="8" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Clinical manifestations'''
! colspan="7" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Para-clinical findings
! colspan="6" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings
| colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Gold standard'''
| colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Gold standard'''
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|Additional findings
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Additional findings
|-
|-
| colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Symptoms'''
| colspan="4" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Symptoms'''
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical examination
! colspan="4" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination    
|-
|-
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab Findings
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Histopathology
|-  
|-  
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 2
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Chest pain
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Cerebrovascular accident
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Systemic symptoms
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hypertension
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Heart attack     
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 1
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |motor or/and sensory deficit
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Arterial occlusion or/and rupture
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Metabolic disturbances
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 1
(Hyperlipidemia/Hyperglycemia)
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inflammatory biomarkers
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific Lab Data
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Angiography
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CTA/MRA
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Duplex
ultrasound
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Fibromuscular<br>dysplasia
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |Angiography
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Atherosclerotic Vascular Disease
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |Angiography
| style="background: #F5F5F5; padding: 5px;" |Generally older than 60 yrs of age
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Takayasu Arteritis
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |Female, younger than 40 yrs of age, hypertension, absent or decreased pulses, bruits, murmur of aortic regurgitation
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 3
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Moyamoya disease
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
| style="background: #F5F5F5; padding: 5px;" | +
!Diseases
| style="background: #F5F5F5; padding: 5px;" | +
!Symptom 1
| style="background: #F5F5F5; padding: 5px;" | +
! colspan="1" rowspan="1" |Symptom 2
| style="background: #F5F5F5; padding: 5px;" |Angiography
!Symptom 3
| style="background: #F5F5F5; padding: 5px;" |Children with MMD often exhibit abnormalities on EEG. The most characteristic is the "rebuild-up" phenomenon following hyperventilation.
!Physical exam 1
! colspan="1" rowspan="1" |Physical exam 2
!Physical exam 3
!Lab 1
!Lab 2
!Lab 3
!Imaging 1
!Imaging 2
!Imaging 3
!Histopathology
|'''Gold standard'''
!Additional findings
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 4
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Ehlers-Danlos type IV syndrome|Ehlers-Danlos Type IV]]
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |Sequence and deletion/duplication testing of the ''COL3A1'' gene/Analysis of type III procollagen from fibroblasts culture
| style="background: #F5F5F5; padding: 5px;" |Younger than 40 yrs of age, small body habitus, characteristic facial appearance, translucent skin, easy bruising, hypermobile joints
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 5
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Segmental arterial mediolysis
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
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| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |+/-
| style="background: #F5F5F5; padding: 5px;" | -
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| style="background: #F5F5F5; padding: 5px;" |Histology
| style="background: #F5F5F5; padding: 5px;" |A rare conditions in the elderly
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 6
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Cocaine vasculitis
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| style="background: #F5F5F5; padding: 5px;" | +/-
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| style="background: #F5F5F5; padding: 5px;" | +/-
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| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
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| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" |Urine toxicology/MPO-ANCA/PR3-ANCA
| style="background: #F5F5F5; padding: 5px;" |Men with fewer cardiovascular risk factors
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Latest revision as of 21:09, 14 February 2019

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

Overview

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

(Hyperlipidemia/Hyperglycemia)

Inflammatory biomarkers Specific Lab Data Angiography CTA/MRA Duplex

ultrasound

Fibromuscular
dysplasia
+ +/- +/- - +/- +/- +/- +/- - - + + + 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

References

  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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