Skip to main content

Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations

  • Protocol
  • First Online:
Cerebral Cavernous Malformations (CCM)

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2152))

Abstract

The incidence, prevalence, and mode of presentation of cavernous malformations is important to better understand the disease, educate patients and practitioners, aid in treatment decisions, and to design clinical trials. Prior to the advent of MRI, cavernous malformations were often diagnosed only when a catastrophic event occurred and/or the lesion was removed. With the more frequent diagnostic use of MRI, it has become clear that cavernous malformations are more prevalent than previously thought and many are identified incidentally. The remainder may present to clinical attention with intracerebral hemorrhage, seizure without hemorrhage, or focal neurologic deficit without overt hemorrhage. The precise reason why some cavernous malformations become symptomatic and others remain asymptomatic is not clear. However, evolving data suggests that brainstem location, estrogen use in women, and low vitamin D may play a role in hemorrhagic presentation.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Brown RD, Wiebers DO, Torner J, O’Fallon WM (1996) Incidence and prevalence of intracranial vascular malformations in Olmsted County, Minnesota, 1965-1992. Neurology 46:949–952

    Article  PubMed  Google Scholar 

  2. Al-Shahi Salman R, Bhattacharya JJ, Currie DG, Papanastassiou V, Ritchie V, Roberts RC, Sellar RJ, Warlow CP (2003) Prospective, population-based detection of intracranial vascular malformations in adults: the Scottish intracranial vascular malformation study (SIVMS). Stroke 34:1163–1169. https://doi.org/10.1161/01.str.0000069018.90456.c9

    Article  Google Scholar 

  3. Courville CB (1950) Pathology of the central nervous system, 3rd edn. Pacific Press Publishing Association, Mountain View, CA

    Google Scholar 

  4. Otten P, Pizzolato GP, Rilliet B, Berney J (1989) 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neuro-Chirurgie 35:128–131

    Google Scholar 

  5. Al-Holou WN, O’Lynnger TM, Pandey AS, Gemmete JJ, Thompson BG, Muraszko KM, Garton HJ, Maher CO (2012) Natural history and imaging prevalence of cavernous malformations in children and young adults. J Neurosurg Pediatr 9:198–205. https://doi.org/10.3171/2011.11.peds11390

    Article  PubMed  Google Scholar 

  6. Flemming KD, Graff-Radford J, Aakre J, Lanzino G, Brown RD Jr, Mielke MM, Roberts RO, Kremers W, Knopman DS, Petersen RC, Jack CR Jr (2017) Population-based prevalence of cerebral cavernous malformations in older adults: mayo clinic study of aging. JAMA Neurol 74:801–805

    Article  PubMed  PubMed Central  Google Scholar 

  7. DelCurling O Jr, Kelly DL Jr, Elster AD, Craven TE (1991) An analysis of the natural history of cavernous angiomas. J Neurosurg 75:702–708

    Article  Google Scholar 

  8. Sage MR, Brophy BP, Sweeney C, Phipps S, Perrett LV, Sandhu A, Albertyn LE (1993) Cavernous haemangiomas (angiomas) of the brain: clinically significant lesions. Australas Radiol 37:147–155

    Article  CAS  PubMed  Google Scholar 

  9. Vernooij MW, Ikram MA, Tanghe HL, Vincent AJPE, Hofman A, Krestin GP, Niessen WJ, MMB B, van der Lugt A (2007) Incidental findings on brain MRI in the general population. N Engl J Med 357:1821–1828

    Article  CAS  PubMed  Google Scholar 

  10. Morris Z, Whiteley WN, Longstreth WT Jr, Weber F, Lee YC, Tsushima Y, Alphs H, Ladd SC, Warlow C, Wardlaw JM, Al-Shahi Salman R (2009) Incidental findings on brain magnetic resonance imaging: systematic review and meta-analysis. BMJ 339:b3016. https://doi.org/10.1136/bmj.b3016

    Article  PubMed  PubMed Central  Google Scholar 

  11. Bos D, Poels MM, Adams HH, Akoudad S, Cremers LG, Zonneveld HI, Hoogendam YY, Verhaaren BF, Verlinden VJ, Verbruggen JG, Peymani A, Hofman A, Krestin GP, Vincent AJ, Feelders RA, Koudstaal PJ, van der Lugt A, Ikram MA, Vernooij MW (2016) Prevalence, clinical management, and natural course of incidental findings on brain MR images: the population-based Rotterdam scan study. Radiology 281:507–515. https://doi.org/10.1148/radiol.2016160218

    Article  PubMed  Google Scholar 

  12. Flemming KD, Kumar S, Brown, RD, Lanzino, G (2020) Predictors of Initial Clinical Presentation of Hemorrhage in Patients with Cavernous Malformation, World Neurosurgery, 133:e767–773

    Google Scholar 

  13. Al-Shahi Salman R, Hall JM, Horne MA, Moultrie F, Josephson CB, Bhattacharya JJ, Counsell CE, Murray GD, Papanastassiou V, Ritchie V, Roberts RC, Sellar RJ, Warlow CP, Scottish Audit of Intracranial Vascular Malformations collaborators (2012) Untreated clinical course of cerebral cavernous malformations: a prospective, population-based cohort study. Lancet Neurol 11:217–224. https://doi.org/10.1016/S1474-4422(12)70004-2

    Article  PubMed  Google Scholar 

  14. Flemming KD, Link MJ, Christianson TJ, Brown RD Jr (2012) The prospective hemorrhage risk of intracerebral cavernous malformations. Neurology 78:632–636

    Article  CAS  PubMed  Google Scholar 

  15. Akers A, Al-Shahi Salman R, Awad I, Dahlem K, Flemming KD, Hart B, Kim H, Jusue-Torres I, Kondziolka D, Lee C, Morrison L, Rigamonti D, Rebeiz T, Tournier-Lasserve E, Waggoner D, Whitehead K (2017) Synopsis of guidelines for the clinical management of cerebral cavernous malformations: consensus recommendations based on systematic literature review by the angioma alliance scientific advisory board clinical experts panel. Neurosurgery 80:665–680

    Article  PubMed  PubMed Central  Google Scholar 

  16. Morrison L, Akers A (2003) Cerebral Cavernous malformation, familial. University of Washington, Seattle; 1993-2019. https://www.ncbi.nlm.nih.gov/books/NBK1293/. Accessed 30 Jul 2019

  17. Brinjikji W, El-Masri AE, Wald JT, Flemming KD, Lanzino G (2017) Prevalence of cerebral cavernous malformations associated with developmental venous anomalies increases with age. Child Nerv Syst June, vol 33, p 1539

    Google Scholar 

  18. Aiba T, Tanaka R, Koike T, Kameyama S, Takeda N, Komata T (1995) Natural history of intracranial cavernous malformations. J Neurosurg 83:56–59

    Article  CAS  PubMed  Google Scholar 

  19. Horne MA, Flemming KD, Su IC, Stapf C, Jeon JP, Li D, Maxwell SS, White P, Christianson TJ, Agid R, Cho WS, Oh CW, Wu Z, Zhang JT, Kim JE, Ter Brugge K, Willinsky R, Brown RD Jr, Murray GD, Al-Shahi Salman R, Cerebral Cavernous Malformations Individual Patient Data Meta-analysis Collaborators (2016) Clinical course of untreated cerebral cavernous malformations: a meta-analysis of individual patient data. Lancet Neurol 15:166–173. https://doi.org/10.1016/S1474-4422(15)00303-8

    Article  PubMed  PubMed Central  Google Scholar 

  20. Labauge P, Brunereau L, Lévy C, Laberge S, Houtteville JP (2000) The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients. Neuroradiology 42:327–332

    Article  CAS  PubMed  Google Scholar 

  21. Porter PJ, Willinsky RA, Harper W, Wallace MC (1997) Cerebral cavernous malformations: natural history and prognosis after clinical deterioration with or without hemorrhage. J Neurosurg 87:190–197

    Article  CAS  PubMed  Google Scholar 

  22. Awad IA, Polster SP (2019) Cavernous angiomas: deconstructing a neurosurgical disease. J Neurosurg 131:1–13. https://doi.org/10.3171/2019.3.JNS181724

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Chohan MO, Marchio S, Morrison LA, Sidman RL, Cavenee WK, Dejana E, Yonas H, Pasqualini R, Arap W (2018) Emerging pharmacologic targets in cerebral cavernous malformation and potential strategies to Alter the natural history of a difficult disease: a review. JAMA Neurol 76:492. https://doi.org/10.1001/jamaneurol.2018.3634

    Article  Google Scholar 

  24. Flemming KD, Brown RD, Link MJ (2015) Seasonal variation in hemorrhage and focal neurologic deficit due to intracerebral cavernous malformations. J Clin Neurosci 22:969–971. https://doi.org/10.1016/j.jocn.2015.01.007

    Article  PubMed  Google Scholar 

  25. NIH State-of-the-Science Conference Statement on Multivitamin/Mineral Supplements and Chronic Disease Prevention (2006) NIH consensus and state-of-the-science statements. NIH Consens State Sci Statements 23:1–30

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Kelly D. Flemming .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Science+Business Media, LLC, part of Springer Nature

About this protocol

Check for updates. Verify currency and authenticity via CrossMark

Cite this protocol

Flemming, K.D. (2020). Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations. In: Trabalzini, L., Finetti, F., Retta, S. (eds) Cerebral Cavernous Malformations (CCM) . Methods in Molecular Biology, vol 2152. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-0640-7_2

Download citation

  • DOI: https://doi.org/10.1007/978-1-0716-0640-7_2

  • Published:

  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-0639-1

  • Online ISBN: 978-1-0716-0640-7

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics