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Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges—2nd Edition
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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 April 2025 | Viewed by 3827

Special Issue Editors

Prof. Dr. Carmelo Bernabeu

E-Mail Website
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
Special Issues, Collections and Topics in MDPI journals
Dr. Marco Post

E-Mail Website
Guest Editor
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
Dr. Hans-Jurgen Mager

E-Mail Website
Guest Editor
Department of Pulmonology, St. Antonius Ziekenhuis, Utrecht, The Netherlands
Interests: HHT; pulmonary hypertension; (other) pulmonary vascular diseases
Special Issues, Collections and Topics in MDPI journals

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

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

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

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Related Special Issue

Published Papers (4 papers)

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11 pages, 8323 KiB  
Article
Criteria for PAVM Reintervention
by Adam Fish, Elizabeth Knight, Katharine Henderson, Jeffrey Pollak and Todd Schlachter
J. Clin. Med. 2024, 13(20), 6104; https://doi.org/10.3390/jcm13206104 - 13 Oct 2024
Viewed by 565
Abstract
Background/Objectives: To propose criteria for retreating previously embolized PAVMs and determining the effectiveness of the criteria to prevent paradoxical embolization. Methods: A retrospective review of patients with PAVMs treated at a single HHT center of excellence between 1 January 2013, and 10 September [...] Read more.
Background/Objectives: To propose criteria for retreating previously embolized PAVMs and determining the effectiveness of the criteria to prevent paradoxical embolization. Methods: A retrospective review of patients with PAVMs treated at a single HHT center of excellence between 1 January 2013, and 10 September 2023, was performed. Patients with PAVM recurrence were either retreated or observed based on the following criteria for PAVM reintervention: 1. Embolic device(s) not creating a sufficiently dense matrix, such that a channel through them may be >/ 2 mm; 2. Accessory feeding artery or pulmonary collateral >/ 2 mm; 3. Hemoptysis in a patient with no other explanation. Results: A total of 438 PAVMs were treated in 151 patients, including 106 patients with definite, 14 possible, and 31 doubtful HHT. Post-embolization PAVM recurrence occurred in 36 patients (36/151, 23.8%), including 15 patients (15/151, 9.9%) with 22 PAVMs (22/438, 5.0%) meeting criteria for reintervention. A total of 21 patients (21/151, 13.9%) with recurrence did not meet reintervention criteria and were therefore observed. Pre-treatment paradoxical embolization occurred in 36 patients (36/151) for a lifetime prevalence rate of 23.7%. Post-treatment paradoxical embolization did not occur in any patients following PAVM embolization (0/151). There was one case of iatrogenic paradoxical embolization in a patient being treated for systemic collateral reperfusion and hemoptysis. However, this was not included given that it was not a spontaneous event. Conclusions: Utilizing modern embolization techniques and devices, the proposed reintervention criteria, and screening intervals, paradoxical embolizations can be effectively prevented in patients with PAVMs. Full article
(This article belongs to the Special Issue Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges—2nd Edition)
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15 pages, 5976 KiB  
Article
Molecular and Functional Cargo of Plasma-Derived Exosomes in Patients with Hereditary Hemorrhagic Telangiectasia
by Yanru Wang, Linda Hofmann, Diana Huber, Robin Lochbaum, Sonja Ludwig, Cornelia Brunner, Thomas K. Hoffmann, René Lehner and Marie-Nicole Theodoraki
J. Clin. Med. 2024, 13(18), 5430; https://doi.org/10.3390/jcm13185430 - 13 Sep 2024
Viewed by 786
Abstract
Background: Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder leading to frequent bleeding in several organs. As HHT diagnosis is demanding and depends on clinical criteria, liquid biopsy would be beneficial. Exosomes from biofluids are nano-sized vesicles for intercellular communication. Their cargo [...] Read more.
Background: Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder leading to frequent bleeding in several organs. As HHT diagnosis is demanding and depends on clinical criteria, liquid biopsy would be beneficial. Exosomes from biofluids are nano-sized vesicles for intercellular communication. Their cargo and characteristics represent biomarkers for many diseases. Here, exosomes of HHT patients were examined regarding their biosignature. Methods: Exosomes were isolated from the plasma of 20 HHT patients and 17 healthy donors (HDs). The total exosomal protein was quantified, and specific proteins were analyzed using Western blot and antibody arrays. Human umbilical vein endothelial cells (HUVECs) co-incubated with exosomes were functionally examined via immunofluorescence, proliferation, and scratch assay. Results: The levels of the angiogenesis-regulating protein Thrombospondin-1 were significantly higher in HHT compared to HD exosomes. Among HHT, but not HD exosomes, a negative correlation between total exosomal protein and soluble Endoglin (sENG) levels was found. Other exosomal proteins (ALK1, ALK5) and the particle concentration significantly correlated with disease severity parameters (total consultations/interventions, epistaxis severity score) in HHT patients. Functionally, HUVECs were able to internalize both HD and HHT exosomes, inducing a similar change in the F-Actin structure and a reduction in migration and proliferation. Conclusions: This study provided first insights into the protein cargo and function of HHT-derived exosomes. The data indicate changes in sENG secretion via exosomes and reveal exosomal Thrombospondin-1 as a potential biomarker for HHT. Several exosomal characteristics were pointed out as potential liquid biomarkers for disease severity, revealing a possible new way of diagnosis and prognosis of HHT. Full article
(This article belongs to the Special Issue Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges—2nd Edition)
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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
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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
(This article belongs to the Special Issue Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges—2nd Edition)
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11 pages, 708 KiB  
Systematic Review
The Role of Thalidomide and Its Analogs in the Treatment of Hereditary Hemorrhagic Telangiectasia: A Systematic Review
by Mehmet Can Ugur, Mehmet Baysal and Elif Gulsum Umit
J. Clin. Med. 2024, 13(18), 5404; https://doi.org/10.3390/jcm13185404 - 12 Sep 2024
Viewed by 853
Abstract
Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations and telangiectases, in which the endothelium and immune system play a role in the pathophysiology. Therefore, treatments with antiangiogenic properties which are also regarded as immunomodulators were demonstrated to play an [...] Read more.
Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations and telangiectases, in which the endothelium and immune system play a role in the pathophysiology. Therefore, treatments with antiangiogenic properties which are also regarded as immunomodulators were demonstrated to play an important role in treatment. This systematic review aimed to gather the accumulated information of the use of thalidomide and its analogs in the treatment of HHT. Methods: In this systematic review, publications that were published up to March 2024 and met the inclusion criteria were compiled using the keywords ‘thalidomide’, ‘lenalidomide’, ‘pomalidomide’, ‘immunomodulatory drugs’ and ‘HHT’ in Medline and Scholars databases. Results: A total of 53 articles were evaluated and 15 were included in the study. Thalidomide was the predominant used agent and was observed to be used in patients with ages ranging from 37 to 77 years, with doses ranging from 50 to 200 mg daily, and the mean follow-up period was observed to be 6–60 months. Assessments regarding efficacy were based on the epistaxis severity score (ESS), hemoglobin level, and transfusion independence. While thalidomide showed significant efficacy, it also had an adverse event rate of any severity of up to 85% of patients. Use of lenalidomide to control bleeding in HHT was reported in a single case report, while the use of pomalidomide was observed to be investigated in Phase 1 and Phase 2 studies in patients aged 48 to 70 years, with doses ranging from 1 to 5 mg daily for 6–24 months. This treatment was reported to provide significant improvement in hemoglobin levels and ESS. Adverse events of any severity were observed at a frequency of 60–66%. Conclusions: Antiangiogenic agents such as thalidomide, lenalidomide, and pomalidomide may be effective in managing HHT. However, further studies are needed to optimize the timing, dose, and sequence. Full article
(This article belongs to the Special Issue Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges—2nd Edition)
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