A Case of Hereditary Hemorrhagic Telangiectasia Managed withIntranasal Topical Estrogen

비강내 국소 에스트로겐으로 치료한 유전성 출혈성모세혈관확장증 1예

Song, Jeong-Hwan;Kim, Hyeon-Jun;Yun, Yong-Ro;Kim, Yun-Tae
송정환;김현준;윤용로;김윤태

  • Published : 20060000

Abstract

Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder affecting blood vessels of the skin, mucous membrane and viscera. It is characterized by a clinical triad of multiple telangiectasia, recurrent hemorrhages and familial occurrence. In 80% of patients, epistaxia is the first presenting symptom. It can have a massive impact on the quality of life of those affected. Otolaryngologists should be familiar with this disease because of its potential systemic complication. Recently, we have experienced a 69 year old female complaining of melena and recurrent epistaxis for 20 years. Epistaxis was successfully managed with topical estrogen ointment.

Keywords

References

  1. Hanes FM. Multiple hereditary telangiectasia causing hemorrhage (hereditary hemorrhagic telangiectasia), Bull Johns Hopkins Hosp 1909;20:63-75
  2. Sutton HG. Familial epistaxis. Med Mirror (London) 1864;1:769-81
  3. Osler W. On a family form of recurring epistaxis, associated with multiple telangiectasia of the skin and mucous membrane. Bull Johns Hopkins Hosp 1901;12:333-7
  4. Lee CH, Yoo YS, Park WW. A case of hereditary hemorrhagic telangiectasia. Korean J Otolaryngol-Head Neck Surg 1990;33: 185-91
  5. Kim SS, Yoo SY, Kim MS, Choi YS. A case of hereditary hemorrhagic telangiectasia: Surgical treatment with modified septodermoplasty. Korean J Otolaryngol-Head Neck Surg 1999;42:245-8
  6. Haitjema T. Disch F, Overtoom TT, Westermann CJ, Lammers JW. Screening of family members of patient with hereditary hemorrhagic telangiectasia. Am J Med 1995;99:519-24 https://doi.org/10.1016/S0002-9343(99)80229-0
  7. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990:95:442-7
  8. Haitjema T, Westermann CJ, Overtoom TT, Timmer R, Disch F, Mauser H, et al. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): New insights in pathogenesis complications and treatment. Arch Intern Med 1996: 156:714-9 https://doi.org/10.1001/archinte.156.7.714
  9. White RI, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Chamas L, et al. Pulrrwnary arteriovenous malformations: Techniques and long-term outcome of embolotherapy. Radiology 1988:169:663-9 https://doi.org/10.1148/radiology.169.3.3186989
  10. Bergler W, Gotte K. Hereditary hemorrhagic telangiectasias: A challengefor the clinician. Eur Arch Otorhinolaryngol 1999:256: 10-5 https://doi.org/10.1007/s004050050114
  11. Shovlin CL, Guttrnacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000:91:66-7 https://doi.org/10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P
  12. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Vmasunthar T, et al. Hereditary hemorrhagic telangiectasia: A questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet 2003:40:585-90 https://doi.org/10.1136/jmg.40.8.585
  13. Flessa HC, Glueck HI. Hereditary hemorrhagic telangiectasia (Osler-Weber- Rendu disease). Management of epistaxis in nine patients using systemic hormone therapy. Arch Otolaryngol 1977:103:148-51 https://doi.org/10.1001/archotol.1977.00780200074007
  14. Menefee MG, Flessa HC, Glueck HI, Hogg SP. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): An electron mcroscope study of the vascular lesions before and after therapy with hormones. Arch Otolaryngol 1975:101:246-51 https://doi.org/10.1001/archotol.1975.00780330042011
  15. Harrison DE Hereditary hemorrhagic telangiectasia and oral contraceptives. Lancet 1970:1: 721
  16. Kendall BE, Joyner M, Grant H. Hereditary hemorrhagic telangiectasia-microembolization in the management of epistaxis. Clin Otolaryngol Allied Sci 1977:2:249-61 https://doi.org/10.1111/j.1365-2273.1977.tb01364.x
  17. Saunders WH. Septal dermoplasty for control of nosebleeds in hereditary haemorrhagic telangiectasia or septal perforations. Trans Am Acad Ophtalmol Otolaryngol 1960:64;500-6
  18. Ulso C, Vase P, Stoksted P. Long-term results of derrrwplasty in the treatment of hereditary hemorrhagic telangiectasia. J Laryngol Otol 1983:97:223-6 https://doi.org/10.1017/S0022215100094044
  19. Tombleson PM. Local estrogen for recurrent epistaxis caused by familial telangiectasia. J R Coll Gen Pract 1988:38:227
  20. Wolff JP, Cachelou R, Gueritee N. Absence of systemic hormonal effect in an oestradiol diether topically active on the vaginal mucosa. Maturitas 1982:4:239-46 https://doi.org/10.1016/0378-5122(82)90054-8