International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

M. E. Faughnan, V. A. Palda, G. Garcia-Tsao, U. W. Geisthoff, J. McDonald, D. D. Proctor, J. Spears, D. H. Brown, E. Buscarini, Mark Chestnutt, V. Cottin, A. Ganguly, J. R. Gossage, A. E. Guttmacher, R. H. Hyland, S. J. Kennedy, J. Korzenik, J. J. Mager, A. P. Ozanne, J. F. Piccirillo & 13 others D. Picus, H. Plauchu, M. E.M. Porteous, R. E. Pyeritz, D. A. Ross, C. Sabba, K. Swanson, P. Terry, M. C. Wallace, C. J.J. Westermann, R. I. White, L. H. Young, R. Zarrabeitia

Research output: Contribution to journalReview article

497 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)73-87
Number of pages15
JournalJournal of medical genetics
Volume48
Issue number2
DOIs
StatePublished - Feb 1 2011

Fingerprint

Hereditary Hemorrhagic Telangiectasia
Guidelines
Patient Advocacy
Consensus
Delivery of Health Care
Arteriovenous Malformations
Medical Staff
Administrative Personnel
MEDLINE
Gastrointestinal Tract
Stroke
Databases
Hemorrhage
Lung
Liver
Brain
Therapeutics

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Faughnan, M. E., Palda, V. A., Garcia-Tsao, G., Geisthoff, U. W., McDonald, J., Proctor, D. D., ... Zarrabeitia, R. (2011). International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of medical genetics, 48(2), 73-87. https://doi.org/10.1136/jmg.2009.069013

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. / Faughnan, M. E.; Palda, V. A.; Garcia-Tsao, G.; Geisthoff, U. W.; McDonald, J.; Proctor, D. D.; Spears, J.; Brown, D. H.; Buscarini, E.; Chestnutt, Mark; Cottin, V.; Ganguly, A.; Gossage, J. R.; Guttmacher, A. E.; Hyland, R. H.; Kennedy, S. J.; Korzenik, J.; Mager, J. J.; Ozanne, A. P.; Piccirillo, J. F.; Picus, D.; Plauchu, H.; Porteous, M. E.M.; Pyeritz, R. E.; Ross, D. A.; Sabba, C.; Swanson, K.; Terry, P.; Wallace, M. C.; Westermann, C. J.J.; White, R. I.; Young, L. H.; Zarrabeitia, R.

In: Journal of medical genetics, Vol. 48, No. 2, 01.02.2011, p. 73-87.

Research output: Contribution to journalReview article

Faughnan, ME, Palda, VA, Garcia-Tsao, G, Geisthoff, UW, McDonald, J, Proctor, DD, Spears, J, Brown, DH, Buscarini, E, Chestnutt, M, Cottin, V, Ganguly, A, Gossage, JR, Guttmacher, AE, Hyland, RH, Kennedy, SJ, Korzenik, J, Mager, JJ, Ozanne, AP, Piccirillo, JF, Picus, D, Plauchu, H, Porteous, MEM, Pyeritz, RE, Ross, DA, Sabba, C, Swanson, K, Terry, P, Wallace, MC, Westermann, CJJ, White, RI, Young, LH & Zarrabeitia, R 2011, 'International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia', Journal of medical genetics, vol. 48, no. 2, pp. 73-87. https://doi.org/10.1136/jmg.2009.069013
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of medical genetics. 2011 Feb 1;48(2):73-87. https://doi.org/10.1136/jmg.2009.069013
Faughnan, M. E. ; Palda, V. A. ; Garcia-Tsao, G. ; Geisthoff, U. W. ; McDonald, J. ; Proctor, D. D. ; Spears, J. ; Brown, D. H. ; Buscarini, E. ; Chestnutt, Mark ; Cottin, V. ; Ganguly, A. ; Gossage, J. R. ; Guttmacher, A. E. ; Hyland, R. H. ; Kennedy, S. J. ; Korzenik, J. ; Mager, J. J. ; Ozanne, A. P. ; Piccirillo, J. F. ; Picus, D. ; Plauchu, H. ; Porteous, M. E.M. ; Pyeritz, R. E. ; Ross, D. A. ; Sabba, C. ; Swanson, K. ; Terry, P. ; Wallace, M. C. ; Westermann, C. J.J. ; White, R. I. ; Young, L. H. ; Zarrabeitia, R. / International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. In: Journal of medical genetics. 2011 ; Vol. 48, No. 2. pp. 73-87.
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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.",
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AU - Faughnan, M. E.

AU - Palda, V. A.

AU - Garcia-Tsao, G.

AU - Geisthoff, U. W.

AU - McDonald, J.

AU - Proctor, D. D.

AU - Spears, J.

AU - Brown, D. H.

AU - Buscarini, E.

AU - Chestnutt, Mark

AU - Cottin, V.

AU - Ganguly, A.

AU - Gossage, J. R.

AU - Guttmacher, A. E.

AU - Hyland, R. H.

AU - Kennedy, S. J.

AU - Korzenik, J.

AU - Mager, J. J.

AU - Ozanne, A. P.

AU - Piccirillo, J. F.

AU - Picus, D.

AU - Plauchu, H.

AU - Porteous, M. E.M.

AU - Pyeritz, R. E.

AU - Ross, D. A.

AU - Sabba, C.

AU - Swanson, K.

AU - Terry, P.

AU - Wallace, M. C.

AU - Westermann, C. J.J.

AU - White, R. I.

AU - Young, L. H.

AU - Zarrabeitia, R.

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N2 - 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.

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