Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances

被引：10
|
作者：
Al Tabosh, Tala [1 ]
Al Tarrass, Mohammad [1 ]
Tourvieilhe, Laura [2 ,3 ]
Guilhem, Alexandre [2 ,3 ,4 ]
Dupuis-Girod, Sophie [1 ,2 ,3 ]
Bailly, Sabine [1 ]
机构：
[1] Grenoble Alpes Univ, Biosante Unit U1292, INSERM, CEA, F-38000 Grenoble, France
[2] Femme Me`re Enfants Hosp, Hosp Civils Lyon, Bron, France
[3] Femme Mere Enfants Hosp, Genet Dept, Bron, France
[4] Burgundy Univ, TAI IT Autoimmun Unit RIGHT UMR1098, INSERM, EFS BFC, Besancon, France
来源：
JOURNAL OF CLINICAL INVESTIGATION | 2024年 / 134卷 / 04期
基金：
欧盟地平线“2020”;
关键词：
CAUSES ARTERIOVENOUS-MALFORMATIONS; TGF-BETA RECEPTOR; ENDOTHELIAL-CELLS; VASCULAR MALFORMATIONS; MOUSE MODEL; BEVACIZUMAB; EPISTAXIS; ENDOGLIN; ALK1; THALIDOMIDE;
D O I：
10.1172/JCI176379
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Hereditary hemorrhagic telangiectsia (HHT) is an inherited vascular disorder with highly variable expressivity, affecting up to 1 in 5,000 individuals. This disease is characterized by small arteriovenous malformations (AVMs) in mucocutaneous areas (telangiectases) and larger visceral AVMs in the lungs, liver, and brain. HHT is caused by loss-of-function mutations in the BMP9-10/ENG/ALK1/SMAD4 signaling pathway. This Review presents up-to-date insights on this mutated signaling pathway and its crosstalk with proangiogenic pathways, in particular the VEGF pathway, that has allowed the repurposing of new drugs for HHT treatment. However, despite the substantial benefits of these new treatments in terms of alleviating symptom severity, this not-so-uncommon bleeding disorder still currently lacks any FDA- or European Medicines Agency-approved (EMA-approved) therapies.
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页数：13
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