Executive summary of the 14th HHT international scientific conference

IF 9.2 1区 医学 Q1 PERIPHERAL VASCULAR DISEASE Angiogenesis Pub Date : 2023-09-11 DOI:10.1007/s10456-023-09886-5
Roxana Ola, Josefien Hessels, Adrienne Hammill, Cassi Friday, Marianne Clancy, Hanny Al-Samkari, Stryder Meadows, Vivek Iyer, Rosemary Akhurst
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Abstract

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by small, dilated clustered vessels (telangiectasias) and by larger visceral arteriovenous malformations (AVMs), which directly connect the feeding arteries with the draining veins. These lesions are fragile, prone to rupture, and lead to recurrent epistaxis and/or internal hemorrhage among other complications. Germline heterozygous loss-of-function (LOF) mutations in Bone Morphogenic Protein 9 (BMP9) and BMP10 signaling pathway genes (endoglin-ENG, activin like kinase 1 ACVRL1 aka ALK1, and SMAD4) cause different subtypes of HHT (HHT1, HHT2 and HHT-juvenile polyposis (JP)) and have a worldwide combined incidence of about 1:5000. Expert clinicians and international scientists gathered in Cascais, Portugal from September 29th to October 2nd, 2022 to present the latest scientific research in the HHT field and novel treatment strategies for people living with HHT. During the largest HHT scientific conference yet, participants included 293 in person and 46 virtually. An impressive 209 abstracts were accepted to the meeting and 59 were selected for oral presentations. The remaining 150 abstracts were presented during judged poster sessions. This review article summarizes the basic and clinical abstracts selected as oral presentations with their new observations and discoveries as well as surrounding discussion and debate. Two discussion-based workshops were also held during the conference, each focusing on mechanisms and clinical perspectives in either AVM formation and progression or current and future therapies for HHT. Our hope is that this paper will represent the current progress and the remaining unanswered questions surrounding HHT, in order to serve as an update for those within the field and an invitation to those scientists and clinicians as yet outside of the field of HHT.

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第十四届HHT国际科学会议执行摘要。
遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性遗传性血管疾病,其特征是小型扩张的聚集性血管(毛细血管扩张症)和较大的内脏动静脉畸形(AVM),这些畸形直接连接供血动脉和引流静脉。这些病变很脆弱,容易破裂,并导致复发性鼻出血和/或内出血等并发症。骨形成蛋白9(BMP9)和BMP10信号通路基因(endoglin ENG、激活素样激酶1 ACVRL1 aka ALK1和SMAD4)中的种系杂合功能丧失(LOF)突变导致不同亚型的HHT(HHT1、HHT2和HHT幼年息肉病(JP)),在全球范围内的综合发病率约为1:5000。2022年9月29日至10月2日,专家临床医生和国际科学家聚集在葡萄牙卡斯凯,介绍HHT领域的最新科学研究以及HHT患者的新治疗策略。在迄今为止规模最大的HHT科学会议上,与会者包括293人,46人。会议接受了令人印象深刻的209篇摘要,并选出59篇进行口头陈述。其余150篇摘要是在经过评委的海报会议上发表的。这篇综述文章总结了被选为口头陈述的基础和临床摘要,以及它们的新观察和发现,以及周围的讨论和辩论。会议期间还举办了两次基于讨论的研讨会,每一次都侧重于AVM形成和进展的机制和临床观点,或HHT的当前和未来治疗方法。我们希望这篇论文将代表当前的进展和围绕HHT的剩余未回答的问题,以便为该领域的研究人员提供最新信息,并邀请那些尚未进入HHT领域的科学家和临床医生。
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来源期刊
Angiogenesis
Angiogenesis PERIPHERAL VASCULAR DISEASE-
CiteScore
21.90
自引率
8.20%
发文量
37
审稿时长
6-12 weeks
期刊介绍: Angiogenesis, a renowned international journal, seeks to publish high-quality original articles and reviews on the cellular and molecular mechanisms governing angiogenesis in both normal and pathological conditions. By serving as a primary platform for swift communication within the field of angiogenesis research, this multidisciplinary journal showcases pioneering experimental studies utilizing molecular techniques, in vitro methods, animal models, and clinical investigations into angiogenic diseases. Furthermore, Angiogenesis sheds light on cutting-edge therapeutic strategies for promoting or inhibiting angiogenesis, while also highlighting fresh markers and techniques for disease diagnosis and prognosis.
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