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The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study

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Abstract

Occult visceral arterio-venous malformations (AVMs) may be a constant threat to patients suffering from hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome (M. ROW). HHT patients predominantly become symptomatic through chronic, recurrent epistaxis, a symptom that can alert physicians at an early stage of the disease. The purpose of this study was to investigate whether occult, visceral arterio-venous malformations could be detected by screening imaging studies in patients suffering from HHT. In a comprehensive diagnostic study, Rendu-Osler-Weber patients were examined for potential visceral arterio-venous malformations by physical examination and non-invasive imaging techniques. The Department of Otolaryngology of the Philipps University of Marburg is a major referral center and coordinated the screening procedures. Thirty-five individuals with the presumed diagnosis of HHT gave informed consent to the screening investigations. Eighteen of 35 individuals were found to suffer from visceral vascular malformations; most of the AVMs were diagnosed in the lung, but also the liver, spleen, brain and eyes were affected. Six patients could be treated preventively by arterial embolization for AVMs of the lung, liver and brain. Comprehensive screening for occult AVMs in HHT patients seems to be justified to avert potential complications in this group of patients.

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References

  1. AAssar OS, Friedman CM, White RI Jr (1991) The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope 101:977–980

    Google Scholar 

  2. Lund VJ, Howard DJ (1999) A treatment algorithm for the management of epistaxis in hereditary hemorrhagic telangiectasia. Am J Rhinol 13:319–322

    CAS  PubMed  Google Scholar 

  3. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ, et al (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66–67

    Article  PubMed  Google Scholar 

  4. Porteous MEM, Burn J, Proctor SJ (1992) Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 29:527–530

    CAS  PubMed  Google Scholar 

  5. Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J et al (1994) A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 6:205–209

    CAS  PubMed  Google Scholar 

  6. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al (1994) Endoglin, a TGF-ß binding protein of endothelial cells, is the gene of hereditary hemorrhagic telangiectasia type 1. Nat Genet 8:345–351

    CAS  PubMed  Google Scholar 

  7. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J (1995) A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 4:945–949

    CAS  PubMed  Google Scholar 

  8. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary hemorrhagic telangiectasia type 2. Nat Genet 13:189–195

    CAS  PubMed  Google Scholar 

  9. Piantanida M, Buscarini E, Dellavecchia C, Minelli A, Rossi A, Buscarini L, et al (1996) Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 33:441–443

    CAS  PubMed  Google Scholar 

  10. Plauchu H, Bideau A (1984) Épidémiologie et constitution d’un registre de population à propos d’ une concentration géographique d’une maladie héréditaire rare. Population 4:765–786

    Google Scholar 

  11. Pasche B, Cerra Wollstein A, Zoll B, Folz B (2003) Rendu-Osler-Weber-Syndrom. Dtsch Arztebl 100:A490–493

    Google Scholar 

  12. Vase P, Holm M, Arendrup H (1985) Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 218:105–109

    CAS  PubMed  Google Scholar 

  13. Teragaki M, Akioka K, Yasuda M, Ikuno Y, Oku H, Takeuchi K, Takeda T (1988) Hereditary hemorrhagic telangiectasias with growing arteriovenous fistulas followed for 24 years. Am J Med Sci 295:545–547

    CAS  PubMed  Google Scholar 

  14. Plauchu H, de Chadarevian JP, Bideau A, Robert JM (1989) Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32:291–297

    CAS  PubMed  Google Scholar 

  15. Kjeldsen AD, Oxhoj H, Andersen PE, Elle B, Jacopsen JP, Vase P (1999) Pulmonary arteriovenous malformations. Screening procedures and pulmonary angiography in patients with hereditary haemorrhagic telangiectasia. Chest 116:432–440

    Article  CAS  PubMed  Google Scholar 

  16. Stecker RH, Lake CF (1965) Hereditary hemorrhagic telangiectasia. Arch Otolaryngol 82:522–526

    Google Scholar 

  17. Werner JA, Lippert BM, Geisthoff UW, Rudert H (1997) Nd:YAG-Lasertherapie der rezidivierenden Epistaxis bei hereditärer hämorrhagischer Teleangiektasie. Laryngorhinootologie 76:495–501

    Google Scholar 

  18. Bergler W, Riedel F, Baker-Schreyer A, Juncker C, Hörmann K (1999) Argon plasma coagulation for the treatment of hereditary hemorrhagic telangiectasia. Laryngoscope 109:15–20

    Google Scholar 

  19. Werner JA (1999) Behandlungskonzept der rezidivierenden Epistaxis bei Patienten mit hereditärer hämorhagischer Telangiektasie. HNO 47:525–529

    Article  CAS  PubMed  Google Scholar 

  20. Werner JA, Geisthoff UW, Lippert BM, Rudert H (1997) Behandlung der rezidivierenden Epistaxis beim Morbus Rendu-Osler-Weber. HNO 9:673–681

    Article  Google Scholar 

  21. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM (1995) Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM 88:879–887

    CAS  PubMed  Google Scholar 

  22. Laroche CM, Wells F, Shneerson J (1992) Massive hemothorax due to enlarging arteriovenous fistula in pregnancy. Chest 101:452–454

    Google Scholar 

  23. Ference BA, Shannon TM, White RI, Zavin M, Burdge CM (1994) Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 106:1387–1390

    CAS  PubMed  Google Scholar 

  24. Mohler ER, Monahan B, Canty MD, Flockhart DA (1991) Cerebral abscess associated with dental procedure in hereditary haemorrhagic telangiectasia. Lancet 338:508–509

    Article  CAS  Google Scholar 

  25. Kjeldsen AD, Oxhoj H, Andersen PE, Green A, Vase P (2000) Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary hemorrhagic telangiectasia (HHT). J Intern Med 248:255–262

    Article  PubMed  Google Scholar 

  26. Maher CO, Piepgras DG, Brown RD, Friedman JA, Pollock BE (2001) Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 32:877–882

    CAS  PubMed  Google Scholar 

  27. Remy J, Remy-Jardin M, Wattinne L, Deffontaines C (1992) Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment. Radiology 182:809–816

    CAS  PubMed  Google Scholar 

  28. Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA (2000) Screening in hereditary hemorrhagic telangiectasia patients. Chest 118:566–567

    Article  CAS  Google Scholar 

  29. Terry PB, Barth KH, Kaufman SL, White RI (1980) Balloon embolization for treatmentof pulmonary arteriovenous fistulas. N Engl J Med 302:1189–1190

    CAS  PubMed  Google Scholar 

  30. White RI (1996) Pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: embolotherapie using balloons and coils. Arch Intern Med 9:2627–2628

    Article  Google Scholar 

  31. White RI Jr, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, et al (1988) Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 169:663–669

    PubMed  Google Scholar 

  32. Cloogman HM, DiCapo RD (1984) Hereditary hemorrhagic telangiectasia: sonographic findings in the liver. Radiology :521–522

  33. Caselitz M, Chavan A, Manns MP, Wagner S (2001) Die Hereditäre Hämorrhagische Telangiektasie (Morbus Osler-Rendu-Weber) und ihre Manifestation an der Leber. Z Gastroenterol 39:533–542

    Article  CAS  PubMed  Google Scholar 

  34. Derauf BJ, Hunter DW, Sirr SA, Cardella JF, Castaneda-Zuniga W, Amplatz K (1987) Peripheral embolization of diffuse hepatic arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol 10:80–83

    Google Scholar 

  35. Whiting JH, Korzenic JR, Miller FJ, Pollack JS, White RI (2000) Fatal outcome after embolotherapy for hepatic arteriovenous malformations of the liver in two patients with hereditary hemorrhagic telangectasia. J Vasc Interv Radiol 11:855–858

    Google Scholar 

  36. Pfitzmann R, Heise M, Langrehr JM, Jonas S, Steinmuller T, Podrabsky P, et al (2001) Liver transplantation for treatment of intrahepatic Osler’s disease: first experiences. Transplantation 72:237–241

    CAS  PubMed  Google Scholar 

  37. Uhlenbrock D, Antoni D, Kukulies R (1985) Nuclear medicine and X-ray findings in Osler’s disease of the lung. Nuklearmedizin 24:52–54

    CAS  PubMed  Google Scholar 

  38. Lewis BS, Swain P (2002) Capsule endoscopy in the evaluation of patients with suspected small intestinal bleeding: results of a pilot study. Gastrointest Endosc 56:349–353

    Article  PubMed  Google Scholar 

  39. Haitjema T, Disch F, Overtoom TT, Westermann CJ, Lammers JW (1995) Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 99:519–524

    Article  CAS  PubMed  Google Scholar 

  40. Matsubara S, Manzia JL, Brugge K, Willinsky RA, Montanera W, Faughnan ME (2000) Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. Am J Neuroradiol 21:1016–1020

    CAS  PubMed  Google Scholar 

  41. Mandzia J, Henderson K, Faughnan M, White R Jr (2001) Compelling reasons to screen brain in HHT. Stroke 32:2957–2958

    CAS  PubMed  Google Scholar 

  42. Garcia-Monaco R, Taylor W, Rodesch G, Alvarez H, Burrows P, Coubes P, Lasjaunias P (1995) Pial arteriovenous fistula in children as presenting manifestation of Rendu-Osler-Weber disease. Neuroradiology 37:60–64

    CAS  PubMed  Google Scholar 

  43. Ziani M, Valignat C, Lopez JG, Ruffion A, Plauchu H, Perrin P (2000) Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). J Urol 164:1292–1293

    CAS  PubMed  Google Scholar 

  44. Gurevitch Y, Hasin Y, Gotsman MS, Rozenman Y (1998) Coronary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia—a case report. Angiology 49:577–580

    CAS  PubMed  Google Scholar 

  45. Vase I, Vase P (1979) Ocular lesions in hereditary haemorrhagic telangiectasia. Acta Ophthalmol 57:1084–1090

    CAS  Google Scholar 

  46. Beech R, Rudd AG, Tilling K, Wolfe CD (1999) Economic consequences of early inpatient discharge to community-based rehabilitation for stroke in an inner-London teaching hospital. Stroke 30:729–735

    CAS  PubMed  Google Scholar 

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Acknowledgements

The authors would like to acknowledge the help of N. Sapundzhiev for data processing and technical help with image processing.

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Authors and Affiliations

  1. Department of Otolaryngology and Head and Neck Surgery, Philipps University of Marburg, Deutschhausstr. 3, 35037, Marburg, Germany

    Benedikt J. Folz, Ana Cerra Wollstein, Anja A. Dünne, Burkard M. Lippert & Jochen A. Werner

  2. Department of Radiology, Philipps University of Marburg, Marburg, Germany

    Heiko Alfke & Hans-Joachim Wagner

  3. Department of Internal Medicine, Philipps University of Marburg, Marburg, Germany

    Konrad Görg

  4. Department of Neuroradiology, Philipps University of Marburg, Marburg, Germany

    Siegfried Bien

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  1. Benedikt J. Folz
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  2. Ana Cerra Wollstein
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  9. Jochen A. Werner
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Correspondence to Benedikt J. Folz.

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Folz, B.J., Wollstein, A.C., Alfke, H. et al. The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study. Eur Arch Otorhinolaryngol 261, 509–516 (2004). https://doi.org/10.1007/s00405-003-0719-3

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  • DOI: https://doi.org/10.1007/s00405-003-0719-3

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