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Current Vascular Pharmacology

Editor-in-Chief

ISSN (Print): 1570-1611
ISSN (Online): 1875-6212

Review Article

Updates on the Pathogenesis and Therapeutic Approaches for Hereditary Hemorrhagic Telangiectasia

In Press, (this is not the final "Version of Record"). Available online 31 January, 2025
Author(s): Alka Yadav, Zahra Shabani, Jasneet Kaur Dhaliwal, Annika Schmidt and Hua Su*
Published on: 31 January, 2025

DOI: 10.2174/0115701611346772250122111526

Price: $95

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and inherited vascular disorder characterized by the development of arteriovenous malformations (AVMs) in various organs and telangiectasia (small AVM) in the mucocutaneous. The majority of HHT patients have haploinsufficiency of genes involved in the transforming growth factor-beta (TGF-β) signaling pathway, including endoglin (ENG), activin receptor-like kinase 1 (ALK1, also known as ACVRL1), or SMAD4. Active angiogenesis is also required for telangiectasia and AVM development. Anti-angiogenic strategies have been tested in patients and animal models extensively. However, the exact mechanisms for telangiectasia and AVM development remain unclear. In this review, we discussed several important advances in the past 10 years in understanding HHT disease mechanisms and in therapeutic development.

Keywords: Hereditary hemorrhagic telangiectasia, arteriovenous malformations, pathogenesis, therapeutics.


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