Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): New insights in pathogenesis, complications, and treatment

Archives of Internal Medicine

Volumn 156, Issue 7, 1996, Pages 714-719

  Haitjema, Tjeerd ^a   Westermann, Cornelius J J ^a   Overtoom, Thimotheus T C ^a   Timmer, Robin ^a   Disch, Frans ^a   Mauser, Henk ^a   Lammers, Jan Willem J ^b  

^a ST ANTONIUS HOSPITAL   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; PROGESTERONE;

ARTERIOVENOUS MALFORMATION; ARTIFICIAL EMBOLISM; BLEEDING; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; REVIEW;

HUMANS; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 0029986771     PISSN: 00039926     EISSN: None     Source Type: Journal    
DOI: 10.1001/archinte.156.7.714     Document Type: Review

References (99)

1. Babington BG. Hereditary epistaxis. Lancet 1865; 2.362-363.
2. Legg W A case of haemophilia complicated with multiple naevi. Lancet. 1876:2 856.
3. Rendu HJLM Épistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux. Bull Soc Med Hop. 1896,13.731-733.
4. Osler W On family form of recurring epistaxis, associated with multiple telangiectases of skin and mucous membranes. Bull Johns Hopkins Hosp. 1901;12 333-337.
5. Weber EP Multiple hereditary developmental angiomata (telangiectasia) of the skin and mucous membranes associated with recurring hemorrhages. Lancet. 1907;2:160-162.
6. Braverman TM, Ken A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990;95:422-427.
7. Menefee MG, Flessa HG, Glueck HI, Hogg SP. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): an electron microscopic study of the vascular lesions before and after therapy with hormones. Arch Otolaryngol 1975,101 246-251
8. Braverman IM, Keh A, Jacobson BS Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990;95:442-447.
9. Hashimoto K, Pritzker M Hereditary hemorfhagtc telangiectasia: an electron microscope study. Oral Surg Oral Med Oral Pathol. 1972;34: 751-768.
10. Jahnke V Ultrastructure of hereditary telangiectasia Arch Otolaryngol 1970,91:262-265
11. Smith CR, Bartholomew LG, Cain JC Hereditary hemorrhagic telangiectasia and gastrointestinal hemorrhage Gastroenterology. 1963,44: 1-6
12. Garland HG, Anning ST Hereditary haemorrhagic telangiectasia: genetic and biographical study. Br J Dermatol 1950,62:289-310.
13. Porteous MEM, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia, a clinical analysis. J Med Genet 1992;29:527-530.
14. Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia Acta Med Scand. 1985,218:105-109
15. Jessurun GA, Kamphuis DJ, van der Zande EH, Nossent JC. Cerebral arteriovenous malformations in the Netherlands Antilles high prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations Clin Neurol Neurosurg 1993;95 193-198.
16. Plauchu H, de Chadarevian JP, Bideau AJ, Robert JML Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989,32.291-297
17. Chu KM, Lai EC, Ng IO Hereditary hemorrhagic telangiectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding. Am J Gastroenterol 1993,88:1116-1119.
18. Heffner RR, Solitare GB. Hereditary haemorrhagic telangiectasia: neuropathological observations. J Neurol Neurosurg Psychiatry. 1969, 32:604-608.
19. Karnik AM, Sughayer A, Eenech FE Spontaneous haemothorax in Osler-Weber-Rendu disease. Postgrad Med J. 1983;59:512-513.
20. Snyder LH, Doan LA. Is the homozygous form of multiple telangiectasia lethal? J Lab Clin Med. 1944,29.1211-1216.
21. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary hemorrhagic telangiectasia type 1. Nat Genet. 1994,8:345-351.
22. Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet. 1995;4:945-949.
23. Border WA, Noble NA. Transforming growth factor in tissue fibrosis. N Engl J Med. 1994;331: 1286-1292.
24. Heutink P, Haitjema T, Breedveld GJ, et al. Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet. 1994;31.933-936.
25. McAllister KA, Lennon E, Bowles-Biesecker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical pnenotype. J Med Genet. 1994;31:927-932.
26. Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia J Med Genet. 1994;31 925-926
27. Peery WH. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 1987;82:989-997.
28. Hodgson CH, Kaye RL. Pulmonary arteriovenous fistula and hereditary hemorrhagic telangiectasia, a review and report of 35 cases of fistula. Dis Chest 1963,43.449-455.
29. Haitjema T, Disch E, Overtoom TTC, Westermann CJJ, Lammers JWJ. Screening of family members of patients with hereditary hemorrhagic telangiectasia. Am J Med. 1995;99.519-524.
30. Reilly PJ, Nostrant TT. Clinical manifestations of hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 1984,79 363-367.
31. Assar OS, Friedman CM, White RI. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991;101 977-980.
32. McCaffrey TV, Kern EB, Lake CE. Management of epistaxis in hereditary hemorrhagic telangiectasia: review of 80 cases. Arch Otolaryngol. 1977,103:627-630
33. Dines DE, Seward JB, Bernatz PE. Pulmonary arteriovenous fistulas. Mayo Clin Proc. 1983;58: 176-181.
34. Sluiter-Eringa H, Orie NGM, Sluiter HJ. Pulmonary arteriovenous fistula: diagnosis and prognosis in noncomplainant patients. Am Rev Respir Dis. 1969;100:177-188.
35. White RI, Lynch-Nyhan A, Terry P, et al. Pulmonary arteriovenous malformations, techniques and long-term outcome of embolotherapy Radiology. 1988;169.663-669.
36. Teragaki M, Ahioka K, Yasuda M, et al Hereditary hemorrhagic telangiectasis with growing pulmonary arteriovenous fistulas followed for 24 years. Am J Med Sci. 1988;295:545-547.
37. Swinburne AJ, Eedullo AJ, Gangemi R, Mijangos JA Hereditary telangiectasia and multiple arteriovenous fistulas, clinical deterioration during pregnancy Chest. 1986;89 459-460.
38. Laroch CM, Wells E, Shneerson J. Massive hemothorax due to enlarging arteriovenous fistula in pregnancy. Chest 1992,101:1452-1454.
39. Ference BA, Shannon TM, White RI, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994,106:1387-1390.
40. Dyer NH. Cerebral abscess in hereditary hemorrhagic telangiectasia: report of two cases in a family J Neurol Neurosurg Psychiatry. 1967;30: 563-567.
41. Adams HP, Subbiah B, Bosch EP. Neurological aspects of hereditary hemorrhagic telangiectasia. report of two cases Arch Neurol. 1977, 34.101-104.
42. Burke CM, Safai G, Nelson DP, Raffin TA. Pulmonary arteriovenous malformations' a critical update. Am Rev Respir Dis 1986,134:334-339.
43. Remy J, Remy-Jardin M, Wattine L, Deffontaines C. Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment. Radiology. 1992;182:809-816.
44. Gutierrez ER, Glazer HS, Levitt RG, Moran JE. NMR imaging of pulmonary arteriovenous fistulae. J Comput Assist Tomogr. 1984;8:750-752.
45. Moser RJ, Tenholder ME Diagnostic imaging of pulmonary arteriovenous malformations: evaluation with roentgenographic, sonographic and radionuclide imaging. Chest 1986;89.586-589.
46. m albumin microspheres. Clin Radiol 1988,39:611-614.
47. Cotes JE. Assessment of distribution of ventilation and of blood flow through the lungs. In: Lung Function: Assessment and Application in Medicine 5th ed. Boston, Mass. Blackwell Scientific Publications Inc; 1993:213-262.
48. West JB. Appendix In: Pulmonary Pathophysiology: The Essentials 3rd ed. Baltimore, Md: Williams & Wilkins, 1993 203-205.
49. Vase P, Grove O. Gastrointestinal lesions in hemorrhagic telangiectasia. Gastroenterology. 1986; 91:1079-1083
50. Bernard G, Mion E, Henry L, Plauchu H, Paliard P. Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases. Gastroenterology. 1993;105:482-487.
51. Eagel WJ, Perlberger R, Kauffmann RH Portosystemic encephalopathy in hereditary hemorrhagic telangiectasia Am J Med. 1988;85:858-860.
52. Zentler-Munro PL, Howard ER, Karani J, Williams R. Variceal haemorrhage in hereditary telangiectasia Gut 1989,30:1293-1297.
53. Rall PW, Johnson MB, Radin DR, Lee KP, Boswell WD Hereditary hemorrhagic telangiectasia: findings in the liver with color Doppler sonography. AJR Am J Roentgenol 1992;159:59-61.
54. Martini GA. The liver in hereditary haemorrhage telangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal Gut 1978;19 531-537.
55. Daly JJ, Schiller AL The liver in hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 1976,60.723-726.
56. Cooney T, Sweeney BC, Coll R, Greally M. 'Pseudocirrhosis' in hereditary hemorrhagic telangiectasia J Clin Pathol. 1977;30:1134-1141.
57. Román G, Fisher M, Perl DP, Poser CM. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) report of two cases and review of the literature. Ann Neurol. 1978,4:130-144.
58. Stein BM, Mohr JP. Vascular malformations of the brain. N Engl J Med. 1988,319:368-369.
59. Mohr JP, Stein BM, Hilal SK. Arteriovenous malformations. In: Toole JE, ed. Handbook of Clinical Neurology Amsterdam, the Netherlands: Elsevier Science Publishers; 1989;10:361-393.
60. Graf GJ, Perret GE, Torner JC Bleeding from cerebral arteriovenous malformations as part of their natural history. J Neurosurg 1983;58.331-337
61. ter Berg JWM, Overtoom TTC, Ludwig JW, Bijlsma JB, Tulleken CAE, Willemse J. Unruptured intracranial arteriovenous malformations with hereditary hemorrhagic telangiectasia, neurosurgical treatment or not? Acta Neurochir (Wien). 1993;121:34-42
62. Rigamonti D, Hadley MN, Drayer BD, et al. Cerebral cavernous malformation: incidence and familial occurrence N Engl J Med. 1988;319:343-347.
63. Steele JG, Nath PU, Burn J, Porteous MEM. An association between migrainous aura and hereditary haemorrhagic telangiectasia Headache. 1993;33:145-148.
64. Iannuzzi MC, Hidaka N, Boehnke M, et al. Analysis of the relationship of von Willebrand disease (vWD) and HHT and identification of a potential type 11A vWD mutation (Ile 865 to Thr). Am J Hum Genet. 1991;48:757-763.
65. Hanna W, McCarrol D, Lin D, et al. A study of a Caucasian family with variant von Willebrand's disease in association with vascular telangiectasia and haemoglobinopathy. Thromb Haemost. 1984;51:275-278.
66. Kurnik PB, Heymann WR. Coronary artery ectasia associated with hereditary hemorrhagic telangiectasia. Arch Intern Med. 1989;149:2357-2359
67. Muggia E. Osler's disease with an aortic arch aneurysm. Arch Intern Med. 1964;114:307-310.
68. McCabe WP, Kelly AP Management of epistaxis in Osler-Wener-Rendu disease: recurrence of telangiectases within a nasal skin graft Plast Reconstr Surg. 1972;50:114-118.
69. Vase P. Estrogen treatment of hereditary hemorrhagic telangiectasia. Acta Med Scand. 1981; 209:393-396.
70. van Cutsem E, Rutgeerts P, Vantrappen G. Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone. Lancet. 1990;335:953-955.
71. Haye R, Austad J. Hereditary haemorrhagic telangiectasia, argon laser Rhinology. 1991,29: 5-9.
72. Shapshay SM, Olver P Treatment of hereditary hemorrhagic telangiectasia by Nd-YAG laser photocoagulation. Laryngoscope 1984;94 1554-1556
73. Parnes LS, Heeneman H, Vinuela E. Percutaneous embolization for control of nasal blood circulation. Laryngoscope. 1987;97:1312-1315.
74. Merland JJ, Melki JP, Chiras J, Riche MC, Hadjean E. Place of embolization in the treatment of severe epistaxis. Laryngoscope. 1980; 90 1694-1704.
75. Haitjema T, Overtoom TTC, Westermann CJJ, Lammers JWJ. Embolisation of pulmonary arteriovenous malformations results and follow-up in 32 patients Thorax 1995;50:719-723
76. Jackson JE, Whyte MKB, Allison DJ, Hughes JMB. Coil embolization of pulmonary arteriovenous malformations Cor Vasa 1990;32 191-196.
77. Puskas JD, Allen MS, Moncure AC, et al Pulmonary arteriovenous malformations: therapeutic options Ann Thorac Surg 1993;56:253-258.
78. Chuang VP, Wallace S, Gianturco C, Soo CS. Complications of coil embolization prevention and management AJR Am J Roentgenol 1982,137: 809-813.
79. Remy-Jardin M, Wattinne L, Remy J. Transcatheter occlusion of pulmonary arterial circulation and collateral supply, failures, incidents and complications. Radiology. 1991,180:699-705.
80. White RI Case 16-1990: brain abscess and pulmonary arteriovenous malformations. N Engl J Med 1992;324:1439-1440.
81. Naveau S, Aubert A, Poynard T, Chaput JC Longterm results of treatment of vascular malformations of the gastrointestinal tract by neodymium: YAG laser photocoagutation. Dig Dis Sci. 1990; 35:821-826.
82. Mathus-Vliegen EMH. Laser treatment of intestinal vascular abnormalities. Int J Colorectal Dis. 1989;4 20-25.
83. Sargeant IR, Loizou LA, Rampton D, Tulloch M, Bown SG. Laser ablation of upper gastrointestinal vascular ectasias: long-term results Gut. 1993;34:470-475.
84. Saba HI, Morelli GA, Logrono LA. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med. 1994; 330:1789-1790.
85. Korzenik JR, Popazian MD, White RI. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med 1994;331:1236.
86. Allison DJ, Jordan H, Hennessy O. Therapeutic embolization of the hepatic artery: a review of 75 procedures. Lancet. 1985;1:595-599.
87. Whiting JH, Morton KA, Datz EL, Patch GG, Miller EJ. Embolization of hepatic arteriovenous malformations using radiolabeled and nonradiolabeled polyvinyl alcohol sponge in a patient with hereditary hemorrhagic telangiectasia. J Nucl Med. 1992;33.260-262
88. Göthlin JH, Nordgard K, Jonsson K, Nyman U. Hepatic telangiectasia in Osler's disease treated with arterial embolization. Eur J Radiol. 1982;2. 27-30.
89. Bourgeois N, Delcour C, Deviere J, et al Osler-Weber-Rendu disease associated with hepatic involvement and high output heart failure. J Clin Gastroenterol. 1990,12:236-237.
90. Derauf BJ, Hunter DW, Cardella JE, Castaneda-Zuniga W, Amplatz K. Peripheral embolization of diffuse hepatic arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 1987;10:80-83.
91. Radtke WE, Smtih HC, Eulton RE, Adson MA. Misdiagnosis of atrial septal defect in patients with hereditary telangiectasia (Osler-Weber-Rendu disease) and hepatic arteriovenous fistulas. Am Heart J. 1978;95:235-242.
92. Fisher WS. Decision analysis a tool of the future: an application to unruptured arteriovenous malformations. Neurosurgery. 1989;24: 129-135.
93. Aminoff MJ. Treatment of unruptured cerebral arteriovenous malformations Neurology. 1987; 37 815-819
94. Iansek R, Elstein AS, Balla JI Application of decision analysis to management of cerebral arteriovenous malformation Lancet. 1983,2:1132-1135.
95. ter Berg JWM, Dippel DWJ, Habbema JDE, Westermann CJJ, Tulleken CAE, Willemse J. Unruptured intracranial arteriovenous malformations with hereditary haemorrhagic telangiectasia. Acta Neurochir (Wien). 1993,121.34-42.
96. McDonald MT, Papenberg KA, Ghosh S, et al. A disease locus for hereditary hemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. 1994;6:197-202
97. Porteous MEM, Burn J, Proctor SJ Hereditary haemorrhagic telangiectasia a clinical analysis. J Med Genet. 1992;29.527-530.
98. Vase I, Vase P. Ocular lesions in hereditary hemorrhagic telangiectasia. Acta Ophthalmol (Copenh). 1979;57:1084-1090.
99. Brant AM, Schachat AP, White RI. Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Am J Ophthalmol 1989,107:642-646