Special Issue "Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management - Part II"

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

Deadline for manuscript submissions: 15 June 2023 | Viewed by 100

Special Issue Editor

Faculty of Pharmacy, Complutense University of Madrid, 28040 Madrid, Spain
Interests: angiogenesis; endothelial cells; hypoxia inducible factor; β-adrenergic receptor antagonists; cancer research; von hippel-lindau; hereditary hemorrhagic telangiectasia; translational research
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Special Issue Information

Dear Colleagues,

Due to the impact of the Special Issue on Diagnosis and Management on Hereditary Hemorrhagic Telangiectasia, JCM decided to start a second Special Issue.

Hereditary Hemorrhagic Telangiectasia (HHT), an autosomal dominant heritable disease, leads to vascular multi-organ system and ranges from mucocutaneous telangiectases to large arteriovenous malformations. HHT has a prevalence of 1 in 5,000, becoming one of the most prevalent RDs and its diagnosis is based on the Curaçao criteria. HHT disease presents subtypes, depending on the mutations in ENG or ACVRL1/ALK1 genes, both belonging to the TGF-β/BMP9 signaling pathway, or other locations to be determined. If no diagnosis or a wrong diagnosis happens, the disease leads to a decreased life expectancy since HHT is associated with a decreased quality of life and severe complications.

This Special Issue aims (again) to highlight not only the current knowledge regarding the diagnosis and management of HHT but also the newest sequencing strategies and/or mutation hot spots. It also encourages to the presentation of international collaborative works in the diagnosis and management of the disease or related circumstances such as the pandemic year we have suffered.

All this knowledge will dramatically contribute to a better quality of life by shorting the diagnosis and further medical assistance.

Dr. Angel M. Cuesta
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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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.


  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Activin Receptor-like Kinase 1 (ALK1/ACVRL1)
  • Endoglin (ENG)
  • Transforming Growth Factor Beta (TGF-β)
  • Bone Morphogenetic Protein (BMP)
  • SMAD4
  • genotype–phenotype correlation
  • transcription regulation
  • biomarker

Published Papers

This special issue is now open for submission.
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