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Hereditäre hämorrhagische Teleangiektasie (HHT), Morbus Osler

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Definition:
Autosomal-dominante Systemerkrankung mit Angiodysplasien und Blutungsneigung.
Häufigkeit:
Prävalenz in Europa 1 pro 5.000–8.000.
Symptome:
Erstsymptom im Schulalter spontane und rezidivierende Epistaxis, anschließend Teleangiektasien und ggf. Organläsionen.
Befunde:
Teleangiektasien und Befunde aufgrund von Gefäßshunts in Leber, Lunge und/oder Gehirn.
Diagnostik: 
Diagnosestellung mittels der 4 Curaçao-Kriterien: Epistaxis, Teleangiektasien, Organläsionen und positive Familienanamnese.
Therapie:
Screening auf hepatische, pulmonale und zerebrale Gefäßmalformationen und entsprechende Therapie. Oral Tranexamsäure bei rezidivierendem Nasenbluten.
  1. Pasche B, Wollstein AC, Zoll B, Folz B. Rendu-Osler-Weber-Syndrom: Klinik, Genetik und Therapie der hereditären hämorrhagischen Teleangiektasie. Dtsch Arztebl 2003; 100(8): A-490 / B-421 / C-398. www.aerzteblatt.de  
  2. Horn MA, Hugaas KA, Salvesen R. Oslers sykdom - en risikofaktor for hjerneinfarkt. Tidsskr Nor Lægeforen 2003; 123: 2435-6. PubMed  
  3. Shovlin C, Ganesan V. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). UpToDate, last updated Oct 08, 2014. UpToDate  
  4. Fuchizaki U, Miyamori H, Kitagawa S, Kaneko S, Kobayashi K. Hereditary haemorrhagic telangiectasia (Rendu-Osler- Wber disease). Lancet 2003; 362: 1490-4. PubMed  
  5. Shovlin CL, Guttmacher AE, Buscarini E, et al: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu- Osler-Weber syndrome). Am J Med Genet 2000 Mar 6; 91(1): 66-7. PubMed  
  6. Lessnau KD. Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia). Medscape, last updated Mar 26, 2018. emedicine.medscape.com  
  7. Giordano P, Lenato GM, Suppressa P, et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr Health CareOrthop B 2013; 163(1): 179-86. www.ncbi.nlm.nih.gov  
  8. Westermann CJ, Rosina AF, De Vries V, et al. The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet A 2003; 116(4): 324-8. www.ncbi.nlm.nih.gov  
  9. Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease, 9th edition. Philadelphia: Elsevier Saunders, 2015.
  10. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91: 66 - 7. PubMed  
  11. Letteboer TG, Mager JJ, Snijder RJ et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet 2006; 43: 371-7. PubMed  
  12. Richards-Yutz J, Grant K, Chao EC, et al. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet 2010; 128(1): 61-77. www.ncbi.nlm.nih.gov  
  13. Kjeldsen AD, Andersen PE, Mathiesen P. Udredning og behandling af morbus Osler. Ugeskr Læger 2011; 173: 490. portal.findresearcher.sdu.dk  
  14. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009; 17: 860-71. PubMed  
  15. van Gent MW, Post MC, Snijder RJ, et al. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest 2010; 138:833. PubMed  
  16. McDonald JE, Miller FJ, Hallam SE, et al. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. Am J Med Genet 2000; 93:320. PubMed  
  17. Fulbright RK, Chaloupka JC, Putman CM, Sze GK, Merriam MM, Lee GK et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. Am J Neuroradiol 1998; 19: 477 - 84. PubMed  
  18. Román 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 - 44. PubMed  
  19. Pick A, Deschamps C, Stanson AW. Pulmonary arteriovenous fistula: presentation, diagnosis and treatment. World J Surg 1999; 23: 1118 - 22. PubMed  
  20. Dong SL, Reynolds SF, Steiner IP. Brain abscess in patients with hereditary hemorrhagic telangiectasia: case report and literature review. J Emerg Med 2001; 20: 247 - 51. PubMed  
  21. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax 2008; 63:259. PubMed  
  22. Faughnan ME, Palda VA, Garcia-Tsao G et al. International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. J Med Genet 2009, 29. juni (Epub ahead of print). www.ncbi.nlm.nih.gov  
  23. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999; 245: 31-9. PubMed  
  24. Steele JS, Nath PU, Burn J, Porteous MEM. An association between migrainous aura and hereditary haemorrhagic telangiectasia. Headache 1993; 33: 145 - 8. PubMed  
  25. Kroon S, Snijder RJ, Faughnan ME, et al. Systematic screening in hereditary hemorrhagic telangiectasia: a review. Curr Opin Pulm Med 2018; 24(3): 260-8. www.ncbi.nlm.nih.gov  
  26. 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.. Br Dent J 2008; 205(10): 531-3. www.ncbi.nlm.nih.gov  
  • Lino Witte, Dr. med., Arzt in Weiterbildung, Innere Medizin, Frankfurt
  • Anders Waage, overlege og professor, Hematologisk avdeling, St. Olavs Hospital, og Norges teknisk-naturvitenskapelige universitet, Trondheim