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Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia)

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Osler-Weber-Rendu syndrome, also known as “Rendu-Osler-Weber disease”, “Osier’s disease” or “hereditary hemorrhagic telangiectasia (HHT)”, was first described more than a century ago as a rare condition producing minor discomfort for affected people. Nowadays, this disorder is considered to be more common than previously thought, and its association to brain, liver and pulmonary lesions are sources of substantial morbidity and mortality and represent even these days a continuing challenge for many sub-specialities (Guttmacher et al. 1995).

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References

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

    Article  PubMed  CAS  Google Scholar 

  • Ahr DJFR, Rickles LW, Hoyer DS, O’Leary ME (1977) Conrad: von Willebrand’s disease and hemorrhagic telangiectasia. Association of two complex disorders of hemostasis resulting in life-threatening hemorrhage. Am J Med 62: 452–456.

    Article  PubMed  CAS  Google Scholar 

  • Babington BG (1865) Hereditary hemorrhagic telangiectasia. Lancet 2: 362–363.

    Google Scholar 

  • Berg JN, Guttmacher AE, Marchuk DA, Porteous ME (1996) Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 33: 256–257.

    Article  PubMed  CAS  Google Scholar 

  • Bergler W, Sadick H, Götte K, Riedel F, Hörmann K (2002) Topical estrogens combined with argon plasma coagulation in the management of epistaxis in hereditary hemorrhagic telangiectasia. Ann Otol Rhinol Laryngol 111: 222–228.

    PubMed  Google Scholar 

  • Bernard G, Mion F, Henry L, Plauchu H, Paliard P (1993) Hepatic involvement in hereditary haemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases. Gastroenterology 105: 482–487.

    PubMed  CAS  Google Scholar 

  • Bideau A, Plauchu H, Brunet G, Robert J (1989) Epidemiological investigation of Rendu-Osler disease in France: its geographical distribution and prevalence. Population 1: 9–28.

    Google Scholar 

  • Bosher LH, Blake A, Byrd BR (1959) An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery 45: 91–104.

    PubMed  Google Scholar 

  • Braverman IM, Keh A, Jacobson BS (1990) Ultrastructure and three-dimensional organization of the telangiectasia of hereditary hemorrhagic telangiectasia. J Invest Dermatol 95: 442–447.

    Google Scholar 

  • Burke CM, Safai C, Nelson DP, Raffin TA (1986) Pulmonary arteriovenous malformations: a critical update. Am Rev Respir Dis 134: 334–339.

    PubMed  CAS  Google Scholar 

  • Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, Nozaki J, Inoue S, Koizumi A (2002) Genetic epidemiology of hereditary haemorrhagic telangiectasia in a local community in the northern part of Japan. Human Mutat 19: 140–148.

    Article  CAS  Google Scholar 

  • Dines DE, Arms RA, Bernatz PE, Gomes MR (1974) Pulmonary arteriovenous fistulas. Mayo Clinic Proc 49: 460–465.

    CAS  Google Scholar 

  • Easey AJ, Wallace GMF, Hughes JMB, Jackson JE, Taylor WJ, Shovlin CL (2003) Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22061 years HHT patient life. J Neurol Neurosurg Psychiatry 74: 743–748.

    Article  PubMed  CAS  Google Scholar 

  • Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, Pollak JS, White RI Jr (2000) Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med Sept 28; 343(13): 931–936.

    Article  Google Scholar 

  • Garland HG, Anning St (1950) Hereditary hemorrhagic telangiectasia: genetic and biographical study. Br J Dermatol 62: 289–310.

    Article  Google Scholar 

  • Guttmacher AE, Marchuk DA, White RI Jr (1995) Current concepts. Hereditary hemorrhagic telangiectasia. New Eng J Med 10: 918–924.

    Article  Google Scholar 

  • Haitjema T, Disch E, Overtoom TTC, Westermann TJJ, Lammers JWJ (1995) Screening of family members of patients in hereditary hemorrhagic telangiectasia. Am J Med 99: 519–524.

    Article  PubMed  CAS  Google Scholar 

  • Haitjema T, Balder W, Disch FJM, Westermann CJJ (1996) Epistaxis (hereditary hemorrhagic telangiectasia). Rhinology 34: 176–178.

    PubMed  CAS  Google Scholar 

  • Hanes FM (1907) Multiple hereditary telangiectases causing hemorrhage (hereditary hemorrhagic telangiectasia). Bull Johns Hopkins Hosp 1909, 20: 63–73.

    Google Scholar 

  • Hashimoto K, Pritzker M (1972) Hereditary hemorrhagic telangiectasia: an electron microscope study. Oral Surg Oral Med Oral Pathol Radiol Endod 34: 751–768.

    CAS  Google Scholar 

  • Hewes RC, Auster M, White RI Jr (1985) Cerebral embolism—first manifestation of pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol 8: 151–155.

    Article  PubMed  CAS  Google Scholar 

  • Jahnke V (1970) Ultrastructure of hereditary hemorrhagic telangiectasia. Arch Otolaryngol Head and Neck Surg 91: 262–265.

    CAS  Google Scholar 

  • Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA, Markel DS, Jackson CE, Porteous ME, Marchuk DA (1995) A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 5: 21–28.

    Article  PubMed  CAS  Google Scholar 

  • Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary hemorrhagic telangiectasia type. Nature Genet 13: 189–195.

    Article  PubMed  CAS  Google Scholar 

  • Kjeldsen A, Kjeldsen J (2000) Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 95: 415–418.

    Article  PubMed  CAS  Google Scholar 

  • Kjeldsen AD, Vase P, Green A (1999) Hereditary hemorrhagic telangiectasia (HHT): a population-based study of prevalence and mortality in Danish HHT patients. J Intern Med 245: 31–39.

    Article  PubMed  CAS  Google Scholar 

  • Kjeldsen AD, Oxhoj A, Andersen PE, Elle B, Jacobsen JP, Vase P (1999) Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 116: 432–439.

    Article  PubMed  CAS  Google Scholar 

  • Kjeldsen AD, Oxhøj H, Andersen PE, Green A, Vase P (2000) Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurologic symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Int Med 248: 255–262.

    Article  CAS  Google Scholar 

  • Maire R, Schnewlin G, Bollinger A (1986) Video-microscopic studies of telangiectases in Osier’s disease and scleroderma. Schweiz Med Wochenschr 116: 335–339.

    PubMed  CAS  Google Scholar 

  • Maldonado LV, Soloaga ED, Veltri MA, Chertcoff FJ, Ubaldini JE (2007) Spinal abscess in a patient with hereditary hemorrhagic telangiectasia. Medicina (B Aires) 67: 714.

    Google Scholar 

  • Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME (2000) Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 21(6): 1016–1020.

    PubMed  CAS  Google Scholar 

  • McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. (1994) Endoglin, a TGF-ß binding protein of endothelial cell, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8: 345–351.

    Article  PubMed  CAS  Google Scholar 

  • McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, et al. (1994) A disease locus for hereditary hemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 6: 197–204.

    Article  PubMed  CAS  Google Scholar 

  • Menefee MG, Flessa HC, Glueck HI, Hogg SP (1975) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): an electron microscopic study of the vascular lesions before and after therapy with hormones. Arch Otolaryngol Head Neck Surg 101: 791–792.

    Google Scholar 

  • Muri JW (1955) Arteriovenous aneurysm of the lung. Am J Surg 89: 265–271.

    Article  PubMed  CAS  Google Scholar 

  • Osier W (1901) On family form of recurring epistaxis, associated with multiple telangiectases of skin and mucous membranes. Bull Johns Hopkins Hosp 12: 333–337.

    Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Porteous ME, Burn J, Proctor SJ (1992) Hereditary hemorrhagic telangiectasia: a clinical analysis. J Med Genet 29: 527–530.

    Article  PubMed  CAS  Google Scholar 

  • Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J (1994) Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 31: 925–926.

    Article  PubMed  CAS  Google Scholar 

  • Press OW, Ramsey PG (1984) Central nervous system infections associated with hereditary hemorrhagic telangiectasia. Am J Med 77: 86–92.

    Article  PubMed  CAS  Google Scholar 

  • Reilly PJ, Nostrant TT (1984) Clinical manifestations of hereditary hemorrhagic telangiectasia. Am J Gastroenterol 79: 363–367.

    PubMed  CAS  Google Scholar 

  • Remy J, Remy-Jardin M, Giraud F, Wattinne L (1994) Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology 191: 657–664.

    PubMed  CAS  Google Scholar 

  • Rendu HJLM (1896) Épistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux. Bull Soc med Hop 13: 731–733.

    Google Scholar 

  • Robin ED, Laman D, Horn BR, Theodore G (1976) Platypnea related to orthodeoxia caused by true vascular lung shunts. N Engl J Med 294: 941–943.

    PubMed  CAS  Google Scholar 

  • Römer W, Burk M, Schneider W (1992) Hereditäre hämorrhagische Teleangieltasie (Morbus Osier). Dtsch Med Wochenschr 117: 669–675.

    Article  PubMed  Google Scholar 

  • Sadick H, Nairn R Gössler U, Hörmann K, Riedel F (2005a) Angiogenesis in hereditary hemorrhagic telangiectasia: VEGF plasma concentration in correlation to the VEGF expression and microvessel density. Int J Mol Med 15(1): 15–19.

    PubMed  CAS  Google Scholar 

  • Sadick H, Riedel F, Nairn R, Goessler U, Hörmann K, Hafner M, Lux A (2005b) Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-betal as well as high ALK1 tissue expression. Haematologica 90(6): 818–828.

    PubMed  CAS  Google Scholar 

  • Schneider G, Uder M, Koehler M, Kirchin MA, Massmann A, Buecker A, Geisthoff U (2008) MR angiography for detection of pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Roentgenol 190: 892–901.

    Article  Google Scholar 

  • Shovlin CL, Hughes JMB, Tuddenham EGD, Temperley I, Perembelon YF, Scott J, Seidman CE, Seidman JG (1994) A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 6: 205–209.

    Article  PubMed  CAS  Google Scholar 

  • Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM (1995) Medical complications of pregnancy in hereditary hemorrhagic telangiectasia. Quart J Med 88: 879–887.

    CAS  Google Scholar 

  • Shovlin CL, Letarte& M (1999) Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 54: 714–729.

    Article  PubMed  CAS  Google Scholar 

  • Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H (2000) Diagnostic criteria for hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91: 66–67.

    Article  PubMed  CAS  Google Scholar 

  • Shub C, Tajik AJ, Seward JB, Dines DE (1976) Detecting intrapulmonary right-to-left shunt with contrast echocardiography. Mayo Clin Proc 51: 81–84.

    PubMed  CAS  Google Scholar 

  • Sluiter-Eringa H, Orie NGM, Sluiter HJ (1969) Pulmonary arteriovenous fistula. Diagnosis and prognosis in noncomplaint patients. Am Rev Respir Dis 100: 177–188.

    PubMed  CAS  Google Scholar 

  • Snyder LH, Doan CA (1944) Clinical and experimental studies in human inheritance. Is the homozygous form of multiple telangiectasia lethal? J Lab Clin Med 29: 1211–1367.

    Google Scholar 

  • Stringer CJ, Stanley AL, Bates RC, Summers JE (1955) Pulmonary arteriovenous fistula. Am J Surg 89: 1054–1080.

    Article  PubMed  CAS  Google Scholar 

  • Ueki J, Hughes JMB, Peters AM, Bellingan GJ, Mohammed MA, Dutton J, Ussov W, Knight D, Glass D (1994) Oxygen and 99mTc-MAA shunt estimations in patients with pulmonary arteriovenous malformations: effects of changes in posture and lung volume. Thorax 49: 327–331.

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Weber EP (1907) Multiple hereditary developmental angiomata (telangiectasia) of the skin and mucous membranes associated with recurring hemorrhages. Lancet 2: 160–162.

    Google Scholar 

  • White RI Jr, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE (1988) Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 169: 663–669.

    PubMed  Google Scholar 

  • Willinsky RA, Lasjaunias P, Terbrugge K, Burrows P (1990) Multiple cerebral arteriovenous malformations (AVMs): review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 32: 207–210.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Mannheim, Theodor-Kutzer-Ufer 1-3, D-68167, Mannheim, Germany

    Haneen Sadick MD, PhD & Karl Hörmann MD

  2. Department of Clinical Radiology, University Hospital Mannheim, Theodor-Kutzer-Ufer 1-3, D-68167, Mannheim, Germany

    Maliha Sadick MD

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  1. Haneen Sadick MD, PhD
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  2. Maliha Sadick MD
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  3. Karl Hörmann MD
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Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Sadick, H., Sadick, M., Hörmann, K. (2008). Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_11

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_11

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