Executive summary of the 11th HHT international scientific conference

被引:18
作者
Arthur, Helen [1 ]
Geisthoff, Urban [2 ]
Gossage, James R. [3 ]
Hughes, Christopher C. W. [4 ]
Lacombe, Pascal [5 ]
Meek, Mary E. [6 ]
Oh, Paul [7 ]
Roman, Beth L. [8 ,9 ]
Trerotola, Scott O. [10 ]
Velthuis, Sebastiaan [11 ]
Wooderchak-Donahue, Whitney [12 ]
机构
[1] Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[2] Essen Univ Hosp, Dept Otorhinolaryngol, Essen, Germany
[3] Georgia Regents Univ, Dept Med, Augusta, GA 30912 USA
[4] Univ Calif Irvine, Dept Mol Biol & Biochem, Irvine, CA 92717 USA
[5] Univ Versailles, Hop Ambroise Pare, AP HP, Dept Diagnost & Intervent Radiol, Boulogne, France
[6] Univ Arkansas Med Sci, Dept Intervent Radiol, Little Rock, AR 72205 USA
[7] Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL USA
[8] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA
[9] Univ Pittsburgh, Vasc Med Inst, Pittsburgh, PA USA
[10] Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA
[11] St Antonius Hosp, Dept Cardiol, Nieuwegein, Netherlands
[12] Univ Utah, ARUP Inst Clin & Expt Pathol, Dept Pathol, Salt Lake City, UT USA
关键词
HHT; Hereditary hemorrhagic telangiectasia; Endoglin; ALK1; Arteriovenous malformation; Epistaxis; HEREDITARY HEMORRHAGIC TELANGIECTASIA; PULMONARY ARTERIOVENOUS-MALFORMATIONS; GENOTYPE-PHENOTYPE RELATIONSHIP; CONTROLLED CLINICAL-TRIAL; RECEPTOR-LIKE KINASE-1; DOUBLE-BLIND; CONTRAST ECHOCARDIOGRAPHY; VASCULAR MALFORMATIONS; TRANEXAMIC ACID; EPISTAXIS;
D O I
10.1007/s10456-015-9482-5
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
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.
引用
收藏
页码:511 / 524
页数:14
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