"Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies"

• DOI: 10.20944/preprints202404.0949.v1
• Publication Date: 2024-04-18T10:55:13Z
• Authors: Alka Y; Zahra Shabani; Jasneet Kaur Dhal...; Annika Schmidt; Hua Su
• Keywords: Pathogenesis

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 telangiectasia (small AVM) mucocutaneous. The majority HHT patients have haploinsufficiency genes involved transforming growth factor-beta (TGFβ) signaling pathway, including endoglin (ENG), activin receptor-like kinase 1 (ALK1, ACVRL1), or SMAD4. Active angiogenesis required for AVM development. Anti-angiogenic strategies been tested animal models extensively. However, exact mechanisms remain unclear. In this review, we discuss recent advances identifying disease mechanisms, potential therapeutic targets.