title: Executive summary of the 11th HHT international scientific conference.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is a hereditary condition that results in vascular malformations throughout the body, which have a proclivity to rupture and bleed. HHT has a worldwide incidence of about 1:5000 and approximately 80 % of cases are due to mutations in ENG, ALK1 (aka activin receptor-like kinase 1 or ACVRL1) and SMAD4. Over 200 international clinicians and scientists met at Captiva Island, Florida from June 11-June 14, 2015 to present and discuss the latest research on HHT. 156 abstracts were accepted to the meeting and 60 were selected for oral presentations. The first two sections of this article present summaries of the basic science and clinical talks. Here we have summarized talks covering key themes, focusing on areas of agreement, disagreement, and unanswered questions. The final four sections summarize discussions in the Workshops, which were theme-based topical discussions led by two moderators. We hope this overview will educate as well as inspire those within the field and from outside, who have an interest in the science and treatment of HHT.
authors.affiliation: Institute of Genetic Medicine, Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Arthur
authors.affiliation: Department of Otorhinolaryngology, Essen University Hospital, Essen, Germany.
authors.forename: Urban
authors.initials: U
authors.lastname: Geisthoff
authors.affiliation: Department of Medicine, Georgia Regents University, Augusta, GA, USA. jgossage@gru.edu.
authors.forename: James R
authors.initials: JR
authors.lastname: Gossage
authors.affiliation: Department of Molecular Biology and Biochemistry, University of California Irvine, Irvine, CA, USA.
authors.forename: Christopher C W
authors.initials: CC
authors.lastname: Hughes
authors.affiliation: Department of Diagnostic and Interventional Radiology, Hôpital Ambroise Paré, Université de Versailles, Assistance Publique-Hôpitaux de Paris, Boulogne-Billancourt, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Lacombe
authors.affiliation: Department of Interventional Radiology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Meek
authors.affiliation: Department of Physiology and Functional Genomics, University of Florida College of Medicine, Gainesville, FL, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Oh
authors.affiliation: Department of Human Genetics and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA.
authors.forename: Beth L
authors.initials: BL
authors.lastname: Roman
authors.affiliation: Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Scott O
authors.initials: SO
authors.lastname: Trerotola
authors.affiliation: Department of Cardiology, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Velthuis
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Department of Pathology, University of Utah, Salt Lake City, UT, USA.
authors.forename: Whitney
authors.initials: W
authors.lastname: Wooderchak-Donahue
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics / Q000378:metabolism; D015703:Antigens, CD / Q000235:genetics / Q000378:metabolism; D003226:Congresses as Topic; D000071063:Endoglin; D006801:Humans; D011956:Receptors, Cell Surface / Q000235:genetics / Q000378:metabolism; D051901:Smad4 Protein / Q000235:genetics / Q000378:metabolism; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C497796:SMAD4 protein, human; D051901:Smad4 Protein; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
keywords: ALK1; Arteriovenous malformation; Endoglin; Epistaxis; HHT; Hereditary hemorrhagic telangiectasia