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  • Cerebral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia

    Final Number:

    M. Neil Woodall MD; Melissa McGettigan MD; Ramon Figueroa MD; Jim Gossage MD; Cargill H. Alleyne MD

    Study Design:

    Subject Category:

    Meeting: Congress of Neurological Surgeons 2013 Annual Meeting

    Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is a hereditary disorder characterized by mucocutaneous telangiectasias, frequent nosebleeds, and visceral arteriovenous malformations. Few reports have outlined the prevalence of the various cerebral vascular malformations found in HHT patients. We set out to compare the prevalence of cerebral vascular malformations in HHT to that of a control population imaged with 3-Tesla Magnetic Resonance Images (MRI) of the brain.

    Methods: A retrospective review of prospectively collected data was carried out using a database of 372 patients seen and examined at the Georgia Health Sciences University HHT Center. For control, 413 consecutively collected MRI examinations of the brain were reviewed for the presence of cerebral vascular malformations in a blinded fashion.

    Results: There was a significant difference in the number of arteriovenous malformations (AVM) (7.7%, p < 0.001), developmental venous anomalies (DVA) (4.3%, p < 0.025), and cerebral aneurysms (2.4%, p < 0.05) in the HHT group as compared to the control group (0.5%, 1.2%, and 0.5% respectively). To our knowledge, this is the first report of an increased prevalence of cerebral aneurysms in the HHT population. The prevalence of multiple arteriovenous shunting lesions was also increased in the HHT group (p < 0.05). HHT AVMs tended to be supratentorial, small, and cortical in this series – findings consistent with other recent studies in the literature. There was no significant difference in the number of arteriovenous fistula, cavernous malformation, or capillary telangiectasia when comparing the HHT group to the control group.

    Conclusions: The prevalence of arteriovenous malformations, developmental venous anomalies, and cerebral aneurysms is increased this population of HHT patients when compared to controls screened with 3-Tesla MRI examinations of the brain. HHT AVMs are more likely to be multiple, and have a tendency toward small size and cortical location. As such, they are often treated with a single-modality therapy.

    Patient Care: HHT is an autosomal dominant disorder that is associated with an increased risk of neurologic pathology including cerebral vascular malformations, cerebral ischemia, and cerebral abscess. An understanding of neurologic disease and screening recommendations in this unique patient population should improve the care of patients with HHT. As with any rare disorder, there is value in the availability of multiple large databases in the literature.

    Learning Objectives: 1) Review vascular malformations in HHT 2) Discuss AVM characteristics in the HHT population 3) Discuss screening recommendations for brain vascular malformations in the HHT population

    References: 1. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. Feb 2006;43(2):97-110. 2. Carette MF, Nedelcu C, Tassart M, Grange JD, Wislez M, Khalil A. Imaging of hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. Jul 2009;32(4):745-757. 3. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. Jan 2003;79(927):18-24. 4. Maher CO, Piepgras DG, Brown RD, Jr., Friedman JA, Pollock BE. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke. Apr 2001;32(4):877-882. 5. Bideau A, Plauchu H, Jacquard A, Robert JM, Desjardins B. [Genetic aspects of Rendu-Osler disease in Haut-Jura: convergence of methodological approaches of historic demography and medical genetics]. J Genet Hum. Jun 1980;28(2):127-147. 6. Guttmacher AE, Marchuk DA, White RI, Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. Oct 5 1995;333(14):918-924. 7. Dakeishi M, Shioya T, Wada Y, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat. Feb 2002;19(2):140-148. 8. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. Jan 1999;245(1):31-39. 9. Achrol AS, Guzman R, Varga M, Adler JR, Steinberg GK, Chang SD. Pathogenesis and radiobiology of brain arteriovenous malformations: implications for risk stratification in natural history and posttreatment course. Neurosurg Focus. May 2009;26(5):E9. 10. Cloft HJ. Spontaneous regression of cerebral arteriovenous malformation in hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. Jun-Jul 2002;23(6):1049-1050. 11. Du R, Hashimoto T, Tihan T, Young WL, Perry V, Lawton MT. Growth and regression of arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg. Mar 2007;106(3):470-477. 12. Espinosa PS, Pettigrew LC, Berger JR. Hereditary hemorrhagic telangectasia and spinal cord infarct: case report with a review of the neurological complications of HHT. Clin Neurol Neurosurg. May 2008;110(5):484-491. 13. Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. Feb 2011;48(2):73-87. 14. Fisher M, Zito JL. Focal cerebral ischemia distal to a cerebral aneurysm in hereditary hemorrhagic telangiectasia. Stroke. May-Jun 1983;14(3):419-421. 15. Fulbright RK, Chaloupka JC, Putman CM, et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol. Mar 1998;19(3):477-484. 16. Haitjema T, Westermann CJ, Overtoom TT, et al. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med. Apr 8 1996;156(7):714-719. 17. Kuo YH, Santoreneos S, Roos D, Brophy BP. Treatment of multiple arteriovenous malformations in pediatric patients with hereditary hemorrhagic telangiectasia and spontaneous hemorrhage. Report of two cases. J Neurosurg. Dec 2007;107(6 Suppl):489-494. 18. Jaskolka J, Wu L, Chan RP, Faughnan ME. Imaging of hereditary hemorrhagic telangiectasia. AJR Am J Roentgenol. Aug 2004;183(2):307-314. 19. Kikuchi K, Kowada M, Sasajima H. Vascular malformations of the brain in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Surg Neurol. May 1994;41(5):374-380. 20. Leung KM, Agid R, terBrugge K. Spontaneous regression of a cerebral arteriovenous malformation in a child with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg. Nov 2006;105(5 Suppl):428-431. 21. Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. Jun-Jul 2000;21(6):1016-1020. 22. McDonald MJ, Brophy BP, Kneebone C. Rendu-Osler-Weber syndrome: a current perspective on cerebral manifestations. J Clin Neurosci. Jul 1998;5(3):345-350. 23. Morgan T, McDonald J, Anderson C, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics. Jan 2002;109(1):E12. 24. Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S, French Italian HHTn. Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia. Eur J Pediatr. Feb 2009;168(2):135-139. 25. Putman CM, Chaloupka JC, Fulbright RK, Awad IA, White RI, Jr., Fayad PB. Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). AJNR Am J Neuroradiol. Oct 1996;17(9):1733-1742. 26. Sabba C, Pasculli G, Lenato GM, et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost. Jun 2007;5(6):1149-1157. 27. Sell B, Evans J, Horn D. Brain abscess and hereditary hemorrhagic telangiectasia. South Med J. Jun 2008;101(6):618-625. 28. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. Mar 2008;63(3):259-266. 29. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. Nov 2010;24(6):203-219. 30. Sobel D, Norman D. CNS manifestations of hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. Sep-Oct 1984;5(5):569-573. 31. Stephan MJ, Nesbit GM, Behrens ML, Whitaker MA, Barnwell SL, Selden NR. Endovascular treatment of spinal arteriovenous fistula in a young child with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg. Nov 2005;103(5 Suppl):462-465. 32. Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. May 2000;92(5):779-784. 33. Subramanian PS, Williams ZR. Arteriovenous malformations and carotid-cavernous fistulae. Int Ophthalmol Clin. Summer 2009;49(3):81-102. 34. Leblanc GG, Golanov E, Awad IA, Young WL, Biology of Vascular Malformations of the Brain NWC. Biology of vascular malformations of the brain. Stroke. Dec 2009;40(12):e694-702. 35. Cohen JE, Boitsova S, Moscovici S, Itshayek E. Concepts and controversies in the management of cerebral developmental venous anomalies. Isr Med Assoc J. Nov 2010;12(11):703-706. 36. Ruiz DS, Yilmaz H, Gailloud P. Cerebral developmental venous anomalies: current concepts. Ann Neurol. Sep 2009;66(3):271-283. 37. Abe M, Hagihara N, Tabuchi K, Uchino A, Miyasaka Y. Histologically classified venous angiomas of the brain: a controversy. Neurol Med Chir (Tokyo). Jan 2003;43(1):1-10; discussion 11. 38. Mandzia J, Henderson K, Faughnan M, White R, Jr. Compelling reasons to screen brain in HHT. Stroke. Dec 1 2001;32(12):2957-2958.

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