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Citation Information: J Clin Invest. 2024;134(4):e176379. https://doi.org/10.1172/JCI176379.
Abstract
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.
Authors
Tala Al Tabosh, Mohammad Al Tarrass, Laura Tourvieilhe, Alexandre Guilhem, Sophie Dupuis-Girod, Sabine Bailly
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