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Updated: May 29, 2025

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Updates on the Pathogenesis and Therapeutic Approaches for Hereditary Hemorrhagic Telangiectasia
Alka Yadav1,2, Zahra Shabani1,2, Jasneet Kaur Dhaliwal1,2
1Center for Cerebrovascular Research, University of California, San Francisco, San Francisco, CA, USA.
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.
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