Research advances in blood-based biomarkers for moyamoya disease

Moyamoya disease (MMD) is characterized by progressive stenosis or occlusion of the distal internal carotid artery and its major branches, with secondary formation of abnormal collateral vessels at the skull base. Previous studies evaluated peripheral blood molecules to reflect vascular pathology and inflammation of MMD, but their limited specificity and susceptibility to confounding factors restricted clinical utility. With advances in high-throughput omics, blood-based biomarkers with improved specificity have been identified, and bioinformatics and machine learning have facilitated biomarker screening and diagnostic model development. Meanwhile, biomarkers for different clinical scenarios have emerged, promoting a shift from “diagnostic” to “decision-making” and “predictive” biomarkers. This review summarizes recent studies in blood-based biomarkers for MMD, aiming to provide references for future in-depth studies and clinical translation.