Current trends in the diagnosis and management of Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia)

Current Opinion in Otolaryngology and Head and Neck Surgery

Volumn 5, Issue 3, 1997, Pages 191-196

  Ross, Douglas A ^a   Jassin, Basem ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; PROGESTERONE;

AUTOSOMAL DOMINANT INHERITANCE; CONGENITAL BLOOD VESSEL MALFORMATION; EPISTAXIS; ESTROGEN THERAPY; GENE MUTATION; GYNECOMASTIA; HEART INFARCTION; HUMAN; LASER SURGERY; LIBIDO; NOSE MUCOSA; PATHOLOGY; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; REVIEW; SCREENING TEST; SKIN DISEASE; THROMBOEMBOLISM; UTERUS BLEEDING;

EID: 0030847155     PISSN: 10689508     EISSN: None     Source Type: Journal    
DOI: 10.1097/00020840-199706000-00009     Document Type: Review

References (59)

1. Haitjema T, Westermann C, Overtoom T, Timmer R, Disch F, Mauser H, Lammers JW: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med 1996, 156:714-719. A good general review of HHT.
2. Smith C, Bartholomew L, Cain J: Hereditary hemorrhagic telangiectasia and gastrointestinal hemorrhage. Gastroenterology 1963, 44:1-6.
3. Haitjema T, Disch E, Overtoom TTC, Westermann CJ, Lammers JW: Screening of family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995, 99:519-524. A review of the genetic aspects of HHT.
4. Porteous M, Burn J, Proctor S: Hereditary hemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992, 29:527-530.
5. Vase P, Holm M, Arendrup H: Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985, 218:105-109.
6. Plauchu H, de Chadarevian J, Bideau A, Robert JM: Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989, 32:291-297.
7. Guttmacher AE, Marchuk DA, White RI: Hereditary hemorrhagic telangiectasia. N Engl J Med 1995, 333:918-924. A well-written review of all aspects of HHT. Diagrams included are very good.
8. Chu K, Lai E, Ng I: Hereditary hemorrhagic telangectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding. Am J Gastroenterol 1993, 88:1116-1119.
9. Karnik A, Sughayer A, Eenech FE: Spontaneous haemothorax in OslerWeber-Rendu disease. Postgrad Med J 1983, 59:512-513.
10. Heffner R, Solitare G: Hereditary hemorrhagic telangiectasia: neuropathological observations. J Neurol Neurosurg Psychiatry 1969, 32:604-608.
11. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J: Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary hemorrhagic telangiectasia type 1. Nat Genet 1994, 8:345-351.
12. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J: A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995, 4:945-949. Describes another locus for the HHT phenotype.
13. Border WA, Noble NA: Transforming growth factor in tissue fibrosis. N Engl J Med 1994, 331:1286-1292.
14. Heutnik P, Haitjema T, Breedveld GJ, Janssen B, Sandkuijl LA, Bontekoe CJ, Westerman CJ, Oostra BA: Linkage of hereditary hemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994, 31:933-936.
15. Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS. Burn J: Genetic heterogeneity in hereditary hemorrhagic telangiectasia. J Med Genet 1994, 31:925-926.
16. Jahnke V: Ultrastructure of hereditary telangiectasia. Arch Otolaryngol 1970, 91:262-265.
17. Peery WH: Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 1987, 82:989-997.
18. Dines DE, Seward JB, Bernatz PE: Pulmonary arteriovenous fistulas. Mayo Clinic Proc 1983, 58:176-181.
19. Dines DE, Arms RA, Bernatz PE, Gomes MR: Pulmonary arteriovenous fistulas. Mayo Clinic Proc 1974, 49:460-465.
20. White RI, Lyunch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE: Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 1988, 169:663-669.
21. Remy J, Remy-jardin M, Giraud F, Wattinne L: Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology 1994, 191:657-664.
22. Haitjema T, Overtoom TTC, Westermann CJ, et al.: Embolisation of pulmonary arteriovenous malformations: results and follow-up in 32 patients. Thorax 1995, 50:719-723.
23. Puskas JD, Allen MS, Moncure AC, Wain JC Jr, Hilgenberg AD, Wright C, Grillo HC, Mathisen DJ: Pulmonary arteriovenous malformations: therapeutic options. Ann Thorac Surg 1993, 56:253-258.
24. Reily PJ, Nostrant TT: Telangiectasia: clinical manifestations of hereditary hemorrhagic telangiectasia. Am J Gastroenterol 1984, 79:363-367.
25. Vase P, Grove O: Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986, 91:1079-1083.
26. 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.
27. Zentler-Munro PL, Howard ER, Karani J, Williams R: Variceal haemorrhage in hereditary telangiectasia. Gut 1989, 30:1293-1297.
28. van Cutsem E, Rutgeerts P, Vantrappen G: Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone. Lancet 1990, 33:953-955.
29. Gostout CJ, Bowyer BA, Ahlquist DA, Viggiano TR, Balm RK: Mucosal vascular malformations of the gastrointestinal tract: clinical observations and results of endoscopic neodymium:yttrium-aluminum-garnet laser therapy. Mayo Clin Proc 1988, 63:993-1003.
30. Sargeant IR, Loizou LA, Rampton D, et al.: Laser ablation of upper gastrointestinal vascular ectasias: long-term results. Gut 1993, 34:470-475.
31. Saba HI, Morelli GA, Logrono LA: Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med 1994, 330:1789-1790.
32. Korznik JR, Popazian MD, White RI: Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med 1994, 331:1236.
33. Allison DJ, Jordan H, Hennessy O: Therapeutic embolization of the hepatic artery: a review of 75 procedures. Lancet 1985, 1:595-599.
34. Radtke WE, Smith HC, Eulton RE, Adson MA: Misdiagnosis of atrial septal defect in patients with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) and hepatic arteriovenous fistulas. Am Heart J 1978, 95:235-242.
35. Stem BM, Mohr Jp: Vascular malformations of the brain. N Engl J Med 1988, 319:368-369.
36. Roman G, Fisher M, Perl DP, Poser CM: 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.
37. Steele JG, Nath PU, Burn J, et al.: An association between migrainous aura and hereditary hemorrhagic telangiectasia. Headache 1993, 33:145-148.
38. White RI, Lynch-Nyhan A, Terry P, Porteous ME: Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 1988, 169:663-669.
39. Willinsky RA, Lasjaunias P, Terbrugge K, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE: Multiple cerebral arteriovenous malformations (AVMs): review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 1990, 32:207-210.
40. Rigamonti D, Hadley MN, Drayer BD, Burrows P: Cerebral cavernous malformation: incidence and familial occurrence. N Engl J Med 1988, 319:343-347.
41. Fisher WS: Decision analysis: a tool of the future: an application to unruptured arteriovenous malformations. Neurosurgery 1989, 24:129-135.
42. Snyder LH, Doan LA: Is the homozygous form of multiple telangiectasia lethal? J Lab Clin Med 1994, 29:1211-1216.
43. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biecsecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon M, Mitchell SE: A disease locus for hereditary hemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994, 6:197-202.
44. Koch HJ, Escher GC, Lewis JS: Hormonal management of hereditary hemorrhagic telangiectasia. JAMA 1952, 149:1376-1380.
45. Harrison DFN: Use of estrogen in treatment of familial hemorrhagic telangiectasia. Laryngoscope 1982, 92:314-319.
46. Vase P: Estrogen treatment of hereditary hemorrhagic telangiectasia. Acta Med Scand 1981, 209:393-396.
47. Harrison DFN: Use of estrogen in treatment of familial hemorrhagic telangiectasia. Laryngoscope 1982, 92:314-320.
48. Siegel MB, Keane W, Atkins J, Rosen M: Control of epistaxis in patients with hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 1991, 105:675-679.
49. Shapsay SM, Oliver P: Treatment of hereditary hemorrhagic telangiectasia by Nd-YAG laser photocoagulation. Laryngoscope 1984, 94:1554-1556.
50. Eiden L, Montanera W, Terbrugge K, Willinsky R, Lasjaunias P, Charles D: Angiographic embolization for the treatment of epistaxis: A review of 108 cases. Otolaryngol Head Neck Surg 1994, 111:44-50.
51. Saunders WH: Permanent control of nosebleeds in patients with hereditary hemorrhagic telangiectasia. Ann Inter Med 1960, 53:147-152.
52. Saunders WH: Septal dermoplasty for hereditary telangiectasia and other conditions. Otolaryngol Clin North Am 1973, 6:745-755.
53. McCaffrey TV, Kern EB, Lake CF: Management of epistaxis in hereditary hemorrhagic telangiectasia. Arch Otolaryngol 1977, 103:627-630.
54. McCabe WP, Kelly AP: Management of epistaxis in Osier-Weber-Rendu disease: recurrence of telangiectases within a nasal skin graft Plast Reconstr Surg 1972, 50:114-118.
55. Milton CM, Shotton JC, Premachandran DJ, et al.: A new technique using cultured epithelial sheets for the management of epistaxis associated with hereditary hemorrhagic telangiectasia. J Laryngol Otol 1993, 107:510-513.
56. Milton, CM, Shotton JC, Premachandran DJ, Woodward BM, Fabre JW, Sergeant RJ: A new technique using cultured epithelial sheets for the management of epistaxis associated with hereditary hemorrhagic telangiectasia. J Laryngol Otol 1993, 107:510-513.
57. Fabre J, Cullen P: Rejection of cultured keratinocyte allografts in the rat: clinical implications and possible clue to the enigma of skin graft rejection. Transplantation 1989, 48:306-315.
58. Green H, Kehinde O, Thomas J: Growth of cultured epidermal cells into multiple epithelial suitable for grafting. Proc Natl Acad Sci 1979, 76:5665-5668.
59. Premachandran DJ, Woodward BM, Miltion CM, Sergeant RJ, Fabre JW: Treatment of postoperative otorrhea by grafting of mastoid cavities with cultured autologous epidermal cells. Lancet 1990, 335:365-367.