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, M. S. Chesnutt, 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. PiccirilloD. 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

571 Scopus citations

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 2011

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Faughnan, M. E., Palda, V. A., Garcia-Tsao, G., Geisthoff, U. W., McDonald, J., Proctor, D. D., Spears, J., Brown, D. H., Buscarini, E., Chesnutt, M. S., Cottin, V., Ganguly, A., Gossage, J. R., Guttmacher, A. E., Hyland, R. H., Kennedy, S. J., Korzenik, J., Mager, J. J., Ozanne, A. P., ... 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