Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges—2nd Edition

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Vascular Medicine".

Deadline for manuscript submissions: 25 September 2024 | Viewed by 857

Special Issue Editors


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Guest Editor
Biological Research Centre, Spanish National Research Council (CSIC), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain
Interests: HHT; vascular biology; angiogenesis; endothelial cells; animal model; genetics; TGF-β signaling; endoglin
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Department of Cardiology, St. Antonius Ziekenhuis, Nieuwegein/Utrecht and University Medical Center, Utrecht, The Netherlands
Interests: HHT; pulmonary hypertension; congenital heart disease
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department of Pulmonology, St. Antonius Ziekenhuis, Utrecht, The Netherlands
Interests: HHT; pulmonary hypertension; (other) pulmonary vascular diseases
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Special Issue Information

Dear Colleagues,

This Special Issue is the second edition of “Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges” (https://www.mdpi.com/journal/jcm/topical_collections/Hereditary_Hemorrhagic_Telangiectasia).

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal heritable disease leading to vascular malformations, ranging from mucocutaneous telangiectases to large arteriovenous malformations, which can occur in different organs. HHT is associated with a decreased quality of life and severe complications. If untreated, the disease leads to a decreased life expectancy. Recent years have brought advances in the diagnosis and treatment of, but not a cure for, HHT. The exact molecular etiology is still unknown, but important steps in unravelling the mechanisms of disease have been made.

This Special Issue aims to highlight not only the current knowledge regarding the diagnosis and treatment of HHT, but also the newest insights in the molecular basis of HHT, because understanding the mechanisms of disease is essential for the development of new medicines or therapeutic strategies.

Prof. Dr. Carmelo Bernabeu
Dr. Marco Post
Dr. Hans-Jurgen Mager
Guest Editors

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Keywords

  • hereditary hemorrhagic telangiectasia (HHT)
  • ALK1
  • ACVRL1
  • endoglin (ENG)
  • arteriovenous malformations
  • embolization
  • VEGF

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Published Papers (1 paper)

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Research

14 pages, 6458 KiB  
Article
Embolization of De Novo Pulmonary Arteriovenous Malformations Using High-Volume Detachable Non-Fibered Coils: Propensity-Matched Comparison to Traditional Coils
by Sipan Mathevosian, Hiro D. Sparks, Lucas R. Cusumano, Dustin G. Roberts, Shamaita Majumdar and Justin P. McWilliams
J. Clin. Med. 2024, 13(3), 648; https://doi.org/10.3390/jcm13030648 - 23 Jan 2024
Viewed by 736
Abstract
Embolization of de novo pulmonary arteriovenous malformations (PAVMs) using high-volume detachable non-fibered (HVDNF) coils was compared to traditional non-HVDNF coils. Persistent-occlusion rates were evaluated. A total of 272 de novo (previously untreated) PAVM treatments were retrospectively stratified into those treated with non-HVDNF coils [...] Read more.
Embolization of de novo pulmonary arteriovenous malformations (PAVMs) using high-volume detachable non-fibered (HVDNF) coils was compared to traditional non-HVDNF coils. Persistent-occlusion rates were evaluated. A total of 272 de novo (previously untreated) PAVM treatments were retrospectively stratified into those treated with non-HVDNF coils only (n = 192) and those treated with HVDNF coils with or without other coils (n = 80). Propensity score matching, followed by survival analysis and cost analysis, was performed. The overall persistent-occlusion rate was 86.0% (234/272). Persistent occlusion was achieved in 81.8% of PAVMs using non-HVDNF coils, compared with 96.3% using HVDNF coils (p = 0.0017). The mean follow-up was 30.7 ± 31.9 months versus 14.7 ± 13.4 months, respectively (p < 0.0001). Propensity-matched survival analysis demonstrated PAVMs treated with HVDNF coils recurred significantly less frequently than PAVMs treated with non-HVNDF coils (p = 0.023). The use of HVDNF coils was more expensive than standard coils, however not significantly different for the treatment of complex PAVMs. The use of high-volume detachable non-fibered coils was associated with higher persistent-occlusion rates when compared with non-HVDNF coils. HVDNF coils were more expensive on average; however, cost was similar between groups for the treatment of complex PAVMs. Full article
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