Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Authors: Urban Geisthoff
Journal: Annals of Internal Medicine (2021)

LettersJuly 2021Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic TelangiectasiaUrban Geisthoff, MDUrban Geisthoff, MDSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L21-0066 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR: The publication of the Second International Hereditary Hemorrhagic Telangiectasia (HHT) Guidelines (1) is an important development for patients with HHT and their clinical caretakers. The guidelines include 2 new screening recommendations: Screening for brain vascular malformations (VMs) is recommended in “children with HHT or [those] at risk for HHT at the time of presentation/diagnosis,” and screening for liver VMs should “be offered to adults with definite or suspected HHT.” As a coauthor of these guidelines, I have already raised concerns about and objected to these recommendations. As a condition of my coauthorship, I have pledged to publish ...References1. Faughnan ME, Mager JJ, Hetts SW, et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med. 2020;173:989-1001. [PMID: 32894695]. doi:10.7326/M20-1443 LinkGoogle Scholar2. Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. World Health Organization; 1968. Google Scholar3. Andermann A, Blancquaert I, Beauchamp S, et al. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86:317-9. [PMID: 18438522] CrossrefMedlineGoogle Scholar4. Eker OF, Boccardi E, Sure U, et al. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Orphanet J Rare Dis. 2020;15:165. [PMID: 32600364] doi:10.1186/s13023-020-01386-9 CrossrefMedlineGoogle Scholar5. Faughnan ME, Palda VA, Garcia-Tsao G, et al; HHT Foundation International–Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48:73-87. [PMID: 19553198] doi:10.1136/jmg.2009.069013 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Note: Prof. Dr. med. Geisthoff is a Board Member and Deputy Vice Chairperson of the German self-help group for HHT (Morbus Osler Selbsthilfe e.V.) and President of the Board of Trustees of the German Osler Foundation (Osler-Stiftung). He is a member of the Global Research and Medical Advisory Board of Cure HHT and a coauthor of the Second International HHT Guidelines.Acknowledgment: The author thanks Catherine Hand for providing help in editing the language of this comment in English.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L21-0066. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoSecond International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia Marie E. Faughnan , Johannes J. Mager , Steven W. Hetts , Valerie A. Palda , Kelly Lang-Robertson , Elisabetta Buscarini , Erik Deslandres , Raj S. Kasthuri , Andrea Lausman , David Poetker , Felix Ratjen , Mark S. Chesnutt , Marianne Clancy , Kevin J. Whitehead , Hanny Al-Samkari , Murali Chakinala , Miles Conrad , Daniel Cortes , Claudia Crocione , Jama Darling , Els de Gussem , Carol Derksen , Sophie Dupuis-Girod , Patrick Foy , Urban Geisthoff , James R. Gossage , Adrienne Hammill , Ketil Heimdal , Katharine Henderson , Vivek N. Iyer , Anette D. Kjeldsen , Masaki Komiyama , Kevin Korenblatt , Jamie McDonald , Jack McMahon , Justin McWilliams , Mary E. Meek , Meir Mei-Zahav , Scott Olitsky , Sara Palmer , Rose Pantalone , Jay F. Piccirillo , Beth Plahn , Mary E.M. Porteous , Marco C. Post , Ivan Radovanovic , Paul J. Rochon , Josanna Rodriguez-Lopez , Carlo Sabba , Marcelo Serra , Claire Shovlin , Dennis Sprecher , Andrew J. White , Ingrid Winship , and Roberto Zarrabeitia Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia Marie E. Faughnan , Johannes J. Mager , Steven W. Hetts , Valerie A. Palda , and Felix Ratjen Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia Marianne S. Clancy , Sara Palmer , Scott Olitsky , Claudia Crocioni , and Beth Plahn Metrics July 2021Volume 174, Issue 7Page: 1034-1035KeywordsAnemiaBrainCase seriesChildrenComputed axial tomographyHemoglobinHemorrhageIron deficiency anemiaLiverPregnancy ePublished: 20 July 2021 Issue Published: July 2021 Copyright & PermissionsCopyright © 2021 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...