Hereditary Hemorrhagic Telangiectasia

유전성출혈모세혈관확장증의 증례 및 문헌 고찰

  • Kwon, Jeong-Seung (Department of Orofacial Pain & Oral Medicine, Yonsei Dental Hospital, Yonsei University College of Dentistry) ;
  • Ahn, Hyung-Joon (Department of Orofacial Pain & Oral Medicine, Yonsei Dental Hospital, Yonsei University College of Dentistry) ;
  • Choi, Jong-Hoon (Department of Orofacial Pain & Oral Medicine, Yonsei Dental Hospital, Yonsei University College of Dentistry)
  • 권정승 (연세대학교 치과대학 구강내과학교실) ;
  • 안형준 (연세대학교 치과대학 구강내과학교실) ;
  • 최종훈 (연세대학교 치과대학 구강내과학교실)
  • Received : 2012.08.11
  • Accepted : 2012.09.10
  • Published : 2012.09.30


Hereditary hemorrhagic telangiectasia is a rare autosomal dorminant disease that features abnormal and fragile vascular dilations of terminal vessels in skin and mucous membranes, as well as arteriovenous malformations of internal organs, particularly lungs, brain, and liver. Often patients have not been diagnosed with HHT for a long time, and undiagnosed HHT patients unnecessarily develop serious complications such as severe life-threatening hemorrhage, stroke or brain abscess. Therefore, early detection and appropriate screening is very important. Early detection of HHT allows the appropriate screening for the presence of silent disease such as AVMs in the lungs, liver, or brain, and preventive treatment in the patient and their affected family members. Dentists should be familiar with HHT because the telangiectases on skin and oral mucosa are often the most dramatic and most easily identified component of HHT. Recently, we experienced a case of HHT. We present the case with a review of the literature.


  1. Regezi JA, Sciubba JJ, Jordan RCK. Oral pathology: clinical pathologic correlations. 6th ed., St. Louis, 2012, Elsevier. p. 117.
  2. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. The New England journal of medicine 1995;333(14):918-924.
  3. Faughnan ME, Palda VA, Garcia Tsao G et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of medical genetics 2011;48(2):73-87.
  4. Shovlin CL, Guttmacher AE, Buscarini E et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). American journal of medical genetics 2000;91(1):66-67.<66::AID-AJMG12>3.0.CO;2-P
  5. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood reviews 2010;24(6):203-219.
  6. McDonald J, Bayrak Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genetics in medicine 2011;13(7):607-616.
  7. Curie A, Lesca G, Cottin V et al. Long-term followup in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases. The journal of pediatrics 2007;151(3):299-306.
  8. Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and maxillofacial pathology. 3rd ed., St. Louis, 2009, Saunders Co., pp. 754-755.
  9. Aassar OS, Friedman CM, White RI. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. The Laryngoscope 1991;101(9):977-980.
  10. White RI, Lynch Nyhan A, Terry P et al. Pulmonary arteriovenous malformations: techniques and longterm outcome of embolotherapy. Radiology 1988;169 (3):663-669.
  11. Gallione CJ, Repetto GM, Legius E et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004;363 (9412):852-859.
  12. Chan P. Antibiotic prophylaxis for patients with hereditary hemorrhagic telangiectasia. Journal of the American Academy of Dermatology 1992;26(2): 282-283.
  13. Shovlin C, Bamford K, Wray D. Post-NICE 2008: Antibiotic prophylaxis prior to dental procedures for patients with pulmonary arteriovenous malformations (PAVMs) and hereditary haemorrhagic telangiectasia. British dental journal 2008;205(10):531-533.
  14. Dupuis Girod S, Giraud S, Decullier E et al. Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. Clinical infectious diseases 2007;44(6): 841-845.