The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
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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Cites
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
Shovlin, C. L., Guttmacher, A. E., Buscarini, E., Faughnan, M. E., Hyland, R. H., Westermann, C. J. J., Kjeldsen, A. D., & Plauchu, H. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p · Cited by 1,744
Self-citationWillinsky, R. A., Taylor, S. M., terBrugge, K., Farb, R. I., Tomlinson, G., & Montanera, W. (2003) · Radiology · doi:10.1148/radiol.2272012071 · Cited by 895
Gallione, C. J., Repetto, G. M., Legius, E., Rustgi, A. K., Schelley, S. L., Tejpar, S., Mitchell, G., Drouin, É., Westermann, C. J., & Marchuk, D. A. (2004) · The Lancet · doi:10.1016/s0140-6736(04)15732-2 · Cited by 756
Self-citationStereotactic radiosurgery for arteriovenous malformations of the brain
Lunsford, L. D., Kondziolka, D., Flickinger, J. C., Bissonette, D. J., Jungreis, C. A., Maitz, A. H., Horton, J. A., & Coffey, R. J. (1991) · Journal of Neurosurgery · doi:10.3171/jns.1991.75.4.0512 · Cited by 724
Plauchu, H., De Chadarévian, J., Bideau, A., & Robert, J. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320320302 · Cited by 580
Self-citationSchünemann, H. J., Jaeschke, R., Cook, D. J., Bria, W. F., El-Solh, A. A., Ernst, A., Fahy, B. F., Gould, M. K., Horan, K. L., Krishnan, J. A., et al. (2006) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200602-197st · Cited by 577
Liver Disease in Patients with Hereditary Hemorrhagic Telangiectasia
Garcia-Tsao, G., Korzenik, J. R., Young, L., Henderson, K. J., Jain, D., Byrd, B., Pollak, J. S., & White, R. I. (2000) · New England Journal of Medicine · doi:10.1056/nejm200009283431305 · Cited by 402
Self-citationA new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
Cole, S. G., Begbie, M. E., Wallace, G. M. F., & Shovlin, C. L. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028712 · Cited by 320
Hemorrhage Risk after Stereotactic Radiosurgery of Cerebral Arteriovenous Malformations
Pollock, B. E., Flickinger, J. C., Lunsford, L. D., Bissonette, D. J., & Kondziolka, D. (1996) · Neurosurgery · doi:10.1097/00006123-199604000-00004 · Cited by 315
Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone
van Cutsem, E., Rutgeerts, P., & Vantrappen, G. (1990) · The Lancet · doi:10.1016/0140-6736(90)91010-8 · Cited by 289
Cited by
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
McDonald, J., Wooderchak-Donahue, W., VanSant Webb, C., Whitehead, K., Stevenson, D. A., & Bayrak-Toydemir, P. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00001 · Cited by 726
Self-citationHereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
McDonald, J., Bayrak-Toydemir, P., & Pyeritz, R. E. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182136d32 · Cited by 398
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Metadata
- Authors
- 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., 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.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2009-06-23
- Volume
- 48
- Issue
- 2
- Pages
- 73-87
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2150580148
- Cited by
- 1,082
- References
- 35
- FWCI
- 16.78
- Type
- journal article
- Language
- en
- Open access
- closed
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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. https://doi.org/10.1136/jmg.2009.069013
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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