Expired CME Article
Brain Abscess and Hereditary Hemorrhagic Telangiectasia
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder that can lead to serious central nervous system complications including hemorrhage, ischemia, and infection. Symptoms can be mild, making diagnosis problematic. Fifty-three prior cases of HHT and brain abscess are described, in addition to two new cases. The clinical manifestations and current methods for diagnosis and management of patients with HHT are reviewed. Early recognition of HHT is important because screening in these patients and affected family members may help prevent complications. In addition, advancements in imaging, surgical techniques, antibiotics, and genetic testing may improve outcomes.
Key Points
* Hereditary hemorrhagic telangiectasia can lead to serious central nervous system complications including hemorrhage, ischemia, and infection.
* Early recognition and appropriate management of hereditary hemorrhagic telangiectasia patients are critical to preventing potentially devastating complications of the disease.
* Mortality rates of hereditary hemorrhagic telangiectasia patients with brain abscess are declining. This may be a result of modern improvements in imaging, medical therapy, and surgical techniques.
This content is limited to qualifying members.
Existing members, please login first
If you have an existing account please login now to access this article or view purchase options.
Purchase only this article ($25)
Create a free account, then purchase this article to download or access it online for 24 hours.
Purchase an SMJ online subscription ($75)
Create a free account, then purchase a subscription to get complete access to all articles for a full year.
Purchase a membership plan (fees vary)
Premium members can access all articles plus recieve many more benefits. View all membership plans and benefit packages.
References
1. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918–924.
2. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66–67.
3. Marchuk DA. The molecular genetics of hereditary hemorrhagic telangiectasia. Chest 1997;111:79S–82S.
4. Bayrak-Toydemir P, Mao R, Lewin S, et al. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med 2004;6:175–191.
5. Berg JN, Guttmacher AE, Marchuk DA, et al. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996;33:256–257.
6. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 2006;43:97–110.
7. Gallione CJ, Scheessele EA, Reinhardt D, et al. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Hum Genet 2000;107:40–44.
8. Thurnheer R, Vernazza PL, Galeazzi RL. Recurrent brain abscesses in an HIV-positive patient with hereditary hemorrhagic telangiectasia and arteriovenous malformations of the lung. Eur J Clin Microbiol Infect Dis 1996;15:407–410.
9. Kubaska SM, Chew FS. Brain abscess in hereditary hemorrhagic telangiectasia. AJR Am J Roentgenol 1997;169:240.
10. el-Houcheimi I, Hardwidge C, Walter P, et al. Brain abscess and hereditary haemorrhagic telangiectasia: a report of three cases. Br J Neurosurg 1998;12:15–17.
11. Hall WA. Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) presenting with polymicrobial brain abscess. Case report. J Neurosurg 1994;81:294–296.
12. Kuwayama K, Takase K, Kashihara M, et al. Central nervous system lesions associated with hereditary hemorrhagic telangiectasia–three case reports. Neurol Med Chir (Tokyo) 2003;43:447–451.
13. Brydon HL, Akinwunmi J, Selway R, et al. Brain abscesses associated with pulmonary arteriovenous malformations. Br J Neurosurg 1999;13:265–269.
14. Dong SL, Reynolds SF, Steiner IP. Brain abscess in patients with hereditary hemorrhagic telangiectasia: case report and literature review. J Emerg Med 2001;20:247–251.
15. Ogino M, Inoue H, Harada S, et al. Cerebellar abscess associated with pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia—case report. Neurol Med Chir (Tokyo) 1996;36:575–579.
16. Kikuchi K, Kowada M, Shioya H, et al. Recurrent brain abscess associated with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)–case report. Neurol Med Chir (Tokyo) 1992;32:891–895.
17. McAndrew NA, Charles TJ. A 60-year-old man with expressive dysphasia. Postgrad Med J 1999;75:431–432.
18. Tabakow P, Jarmundowicz W, Czapiga B, et al. Brain abscess as the first clinical manifestation of multiple pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Folia Neuropathol 2005;43:41–44.
19. Sajeev CG, Fasaludeen M, Venugopal K. Pulmonary arteriovenous fistula presenting as brain abscess. Int J Cardiol 2005;98:153.
20. Harkonen M. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) complicated by pulmonary arteriovenous fistula and brain abscess. Acta Med Scand 1981;209:137–139.
21. Gaini S, Shahin AD, Andersen PE. Brain abscess and hypoxia in a previously healthy young female. Scand J Infect Dis 2005;37:301–303.
22. Press OW, Ramsey PG. Central nervous system infections associated with hereditary hemorrhagic telangiectasia. Am J Med 1984;77:86–92.
23. Swanson DL, Dahl MV. Embolic abscesses in hereditary hemorrhagic telangiectasia. J Am Acad Dermatol 1991;24:580–583.
24. Adams HP Jr, Subbiah B, Bosch EP. Neurologic aspects of hereditary hemorrhagic telangiectasia. Report of two cases. Arch Neurol 1977;34:101–104.
25. Roman G, Fisher M, Perl DP, et al. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature. Ann Neurol 1978;4:130–144.
26. Stern WE, Naffziger HC. Brain abscess associated with pulmonary angiomatous malformation. Ann Surg 1953;138:521–531.
27. Bean WB. Clinical pathologic conference. J Iowa Med Soc 1953;43:107–115.
28. Finkelstein R, Engel A, Simri W, et al. Brain abscesses: the lung connection. J Intern Med 1996;240:33–36.
29. Meacham WF, Scott HW Jr. Congenital pulmonary arteriovenous aneurysm complicated by bacteroides abscess of brain: successful surgical management. Ann Surg 1958;147:404–408.
30. Steinberg I, McClenahan J. Pulmonary arteriovenous fistula; angiocardiographic observations in nine cases. Am J Med 1955;19:549–568.
31. Dyer NH. Cerebral abscess in hereditary haemorrhagic telangiectasia: report of two cases in a family. J Neurol Neurosurg Psychiatry 1967;30:563–567.
32. O’Neill TJ, Fisher H, McDowell DE, et al. Pulmonary arteriovenous fistulas in sisters. J Thorac Surg 1956;31:286–297.
33. Weiss E, Gasul BM. Pulmonary arteriovenous fistula and telangiectasia. Ann Intern Med 1954;41:989–1002.
34. Taber R, Ehrenhaft JL. Arteriovenous fistulae and arterial aneurysms of the pulmonary arterial tree. AMA Arch Surg 1956;73:567–577.
35. Thompson RL, Cattaneo SM, Barnes J. Recurrent brain abscess: manifestation of pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia. Chest 1977;72:654–655.
36. Aronson S, Aronson B. Clinical neuropathological conference. Dis Nerv Syst 1972;33:481–488.
37. Syrop HM. Hereditary hemorrhagic telangiectasia; report of a case. Oral Surg Oral Med Oral Pathol 1957;10:253–261.
38. Tyler HR. Brain abscess and pulmonary arteriovenous fistulae. Trans Am Neurol Assoc 1973;98:314–317.
39. Smith CR Jr, Bartholomew LG, Cain JC. Hereditary hemorrhagic telangiectasia and gastrointestinal hemorrhage. Gastroenterology 1963;44:1–6.
40. Hodgson CH, Burchell HB, Good CA, et al. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula: survey of a large family. N Engl J Med 1959;261:625–636.
41. Woods ML. Photo quiz I. Hereditary hemorrhagic telangiectasia, pulmonary arteriovenous malformations, and brain abscess. Clin Infect Dis 1998;26:1071, 1220–1221.
42. Glenn F. Discussion of Stern and Naffziger. Ann Surg 1953;138:531.
43. Thomas ML, Carty H, Hurley GD. Cerebral hereditary haemorrhagic telangiectasia demonstrated angiographically. Australas Radiol 1975;19:140–144.
44. Kushlan SD. Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous aneurysm; possible etiology and prophylaxis. Conn Med 1952;16:505–513.
45. Sisel RJ, Parker BM, Bahl OP. Cerebral symptoms in pulmonary arteriovenous fistula. A result of paradoxical emboli (?). Circulation 1970;41:123–128.
46. Gelfand MS, Stephens DS, Howell EI, et al. Brain abscess: association with pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia: report of three cases. Am J Med 1988;85:718–720.
47. Wilkin EGL, O’feargham M, Carroli JD. Recurrent cerebral abscess in hereditary hemorrhagic telangiectasia. J Neurol Neurosurg Psychiatry 1983;46:963–965.
48. Sobel D, Norman D. CNS manifestations of hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 1984;5:569–573.
49. Davidson P, Robertson DM. A true mycotic (Aspergillus) aneurysm leading to fatal subarachnoid hemorrhage in a patient with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg 1971;35:71–76.
50. Sadick H, Sadick M, Gotte K, et al. Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures. Wien Klin Wochenschr 2006;118:72–80.
51. Peery WH. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 1987;82:989–997.
52. Michaeli D, Ben-Bassat I, Miller HI, et al. Hepatic telangiectases and portosystemic encephalopathy in Osler-Weber-Rendu disease. Gastroenterology 1968;54:929–932.
53. Longacre AV, Gross CP, Gallitelli M, et al. Diagnosis and management of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2003;98:59–65.
54. Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415–418.
55. Dines DE, Arms RA, Bernatz PE, et al. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974;49:460–465.
56. Wallace GM, Shovlin CL. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Thorax 2000;55:685–690.
57. Cottin V, Plauchu H, Bayle JY, et al. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169:994–1000.
58. Mandazia J, Henderson K, Faughnan M, et al. Compelling reasons to screen brain in HHT. Stroke 2001;32:2957–2958.
59. Maher CO, Piepgras DG, Brown RD Jr, et al. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001;32:877–882.
60. Easey AJ, Wallace GM, Hughes JM, et al. Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life. J Neurol Neurosurg Psychiatry 2003;74:743–748.
61. Willemse RB, Mager JJ, Westermann CJ, et al. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 2000;92:779–784.
62. Mathisen GE, Johnson JP. Brain abscess. Clin Infect Dis 1997;25:763–779; quiz 780–781.
63. Hagensee ME, Bauwens JE, Kjos B, et al. Brain abscess following marrow transplantation: experience at the Fred Hutchinson cancer research center, 1984–1992. Clin Infect Dis 1994;19:402–408.
64. Selby R, Ramirez CB, Singh R, et al. Brain abscess in solid organ transplant recipients receiving cyclosporine-based immunosuppression. Arch Surg 1997;132:304–310.
65. Calfee DP, Wispelwey B. Brain abscess. Semin Neurol 2000;20: 353–360.
66. Alderson D, Strong AJ, Ingham HR, et al. Fifteen-year review of the mortality of brain abscess. Neurosurgery 1981;8:1–6.
67. Barlas O, Sencer A, Erkan K, et al. Stereotactic surgery in the management of brain abscess. Surg Neurol 1999;52:404–410; discussion 411.
68. Tseng JH, Tseng MY. Brain abscess in 142 patients: factors influencing outcome and mortality. Surg Neurol 2006;65:557–562; discussion 562.
69. Dupuis-Girod S, Giraud S, Decullier E, et al. Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. Clin Infect Dis 2007;44:841–845.
70. Kjeldsen AD, Oxhoj H, Andersen PE, et al. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999;116:432–439.
71. Guttmacher AE. HHT summary for physicians and care providers. Available at: http://www.hht.org/web/medical_professionals/physician_summary.asp. Accessed February 22, 2007.
