Executive summary of the 12th HHT international scientific conference

Angiogenesis. 2018 Feb;21(1):169-181. doi: 10.1007/s10456-017-9585-2.

Abstract

Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations. This article covers the basic science and clinical talks, and discussions from three theme-based workshops. We focus on significant emergent themes and unanswered questions. Understanding these topics and answering these questions will help to define the future of HHT research and therapeutics, and ultimately bring us closer to a cure.

Keywords: Activin receptor-like kinase 1 (ALK1); Arteriovenous malformation; Endoglin; Epistaxis; HHT; Hereditary hemorrhagic telangiectasia.

Publication types

  • Congress
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activin Receptors, Type II / genetics
  • Activin Receptors, Type II / metabolism
  • Arteriovenous Malformations / genetics
  • Arteriovenous Malformations / metabolism
  • Arteriovenous Malformations / pathology
  • Arteriovenous Malformations / therapy
  • Croatia
  • Endoglin / genetics
  • Endoglin / metabolism
  • Epistaxis / genetics
  • Epistaxis / metabolism
  • Genetic Variation
  • Humans
  • Smad4 Protein / genetics
  • Smad4 Protein / metabolism
  • Telangiectasia, Hereditary Hemorrhagic* / genetics
  • Telangiectasia, Hereditary Hemorrhagic* / metabolism
  • Telangiectasia, Hereditary Hemorrhagic* / pathology
  • Telangiectasia, Hereditary Hemorrhagic* / therapy

Substances

  • ENG protein, human
  • Endoglin
  • Smad4 Protein
  • ACVRL1 protein, human
  • Activin Receptors, Type II