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J Med Genet 48:73-87 doi:10.1136/jmg.2009.069013
  • Original article

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

  1. R Zarrabeitia33
  1. 1Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada
  2. 2Li Ka Shing Knowledge Institute, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada
  3. 3Departments of Medicine, Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada
  4. 4Section of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA
  5. 5University of the Saarland, Medical Faculty, Homburg/Saar, Germany
  6. 6Department of Otorhinolaryngology, Holweide Hospital, Hospitals of the City of Cologne, Cologne, Germany
  7. 7Department of Radiology, University of Utah, Salt lake City, Utah
  8. 8Section of Digestive Diseases, Yale University School of Medicine, New Haven, Connecticut, USA
  9. 9Department of Surgery, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada
  10. 10Dept of Otolaryngology/Head & Neck Surgery, University of Toronto, Toronto, Ontario, Canada
  11. 11UO di Gastroenterologia ed Endoscopia Digestiva, Ospedale Maggiore, Crema, Italy
  12. 12Portland VA Medical Center, HHT Center of Excellence, Dotter Interventional Institute, Oregon Health & Science University, Portland, Oregon, USA
  13. 13University of Lyon, Hospices Civils de Lyon, National reference center for rare pulmonary diseases, Lyon, France
  14. 14Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
  15. 15Medical College of Georgia, Augusta, Georgia, USA
  16. 16National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
  17. 17Ontario Newborn Screening Program and Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
  18. 18Massachusetts General Hospital Gastrointestinal Unit, Boston, Massachusetts, USA
  19. 19St Antonius Hospital, Nieuwegein, The Netherlands
  20. 20Interventional Neuroradiology, Hopital de Bicetre, Paris, France
  21. 21Department of Otolaryngology-Head & Neck Surgery, Washington University School of Medicine, St Louis, Missouri, USA
  22. 22Department of Radiology, Washington University School of Medicine, St Louis, Missouri, USA
  23. 23National Reference Center for HHT Disease, Hotel Dieu Hospital, Hospices Civils de Lyon, Lyon, France
  24. 24SE Scotland Genetic Service, Western General Hospital, Edinburgh, Scotland
  25. 25University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
  26. 26Department of Surgery, St Vincent's Medical Center, Bridgeport, Connecticut, USA
  27. 27Department of Internal Medicine and Public Health, University of Bari, Bari, Italy
  28. 28Mayo Clinic Division of Pulmonary & Critical Care Medicine, Rochester, MN, USA
  29. 29Division of Pulmonary & Critical Care Medicine, Johns Hopkins University, Baltimore, Maryland, USA
  30. 30Division of Neurosurgery, Krembil Neuroscience Centre, University Health Network, Toronto, Ontario, Canada
  31. 31Yale Vascular Malformation Center, Yale University School of Medicine, New Haven, Connecticut, USA
  32. 32Section of Cardiovascular Medicine, Yale University School of Medicine, New Haven, Connecticut, USA
  33. 33Servicio de Medicina Interna, Unidad HHT, Hospital Sierrallana (Servicio Cántabro de Salud), Torrelavega (Cantabria), Spain
  1. Correspondence to M E Faughnan, St. Michael's Hospital, University of Toronto, St. Michael's Hospital, 30 Bond St, Toronto, M5B-1W8, Canada; faughnanm{at}smh.ca
  1. Contributors All of the authors contributed to the guidelines development and the resulting manuscript.

  • Received 2 May 2009
  • Revised 22 May 2009
  • Accepted 30 May 2009
  • Published Online First 23 June 2009

Abstract

Background HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. HHT is under-diagnosed and families may be unaware of the available screening and treatment, leading to unnecessary stroke and life-threatening hemorrhage in children and adults.

Objective The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of HHT-related complications and treatment of symptomatic disease.

Methods The overall guidelines process was developed using the AGREE framework, using a systematic search strategy and literature retrieval with incorporation of expert evidence in a structured consensus process where published literature was lacking. The Guidelines Working Group included experts (clinical and genetic) from eleven countries, in all aspects of HHT, guidelines methodologists, health care workers, health care administrators, HHT clinic staff, medical trainees, patient advocacy representatives and patients with HHT. The Working Group determined clinically relevant questions during the pre-conference process. The literature search was conducted using the OVID MEDLINE database, from 1966 to October 2006. The Working Group subsequently convened at the Guidelines Conference to partake in a structured consensus process using the evidence tables generated from the systematic searches.

Results The outcome of the conference was the generation of 33 recommendations for the diagnosis and management of HHT, with at least 80% agreement amongst the expert panel for 30 of the 33 recommendations.

Footnotes

  • The HHT Guidelines Working Group intends to generate updated clinical guidelines within approximately 5 years.

  • Centres with recognised expertise in the diagnosis and management of HHT can be located at http://www.hht.org/, the website for the HHT Foundation International.

  • Funding John Abele on behalf of the Argosy Foundation, HHT Foundation International Inc, Canadian Institutes of Health Research, St Michael's Hospital Department of Medicine. Financial support for MEF: Nelson Arthur Hyland Foundation, Li Ka Shing Knowledge Institute of St Michael's Hospital.

  • Competing interests VP received an honorarium for attending the HHT Guidelines Conference. DP received a grant (completed) from the Ethek F Donahue Foundation to study hormonal therapy in HHT.

  • Provenance and peer review Not commissioned; externally peer reviewed.