A biomarker is a defined characteristic measured as an indicator of normal, biologic, pathogenic processes, or biological responses to an exposure or intervention. Diagnostic biomarkers are used to detect a disease or a subtype of a disease; monitoring biomarkers are measured serially to assess a medical condition; response biomarkers are used to check biologic response following a medical intervention; predictive biomarkers are used to identify patients who are more likely to respond to a medical intervention; and prognostic biomarkers are used to assess the future likelihood of a clinical event. Although biomarkers have been extensively investigated and validated in many diseases and pathologies, very few are currently useful for the diagnosis, evaluation of disease activity, and treatment of hereditary angioedema (HAE). Pathophysiologic pathways involved in HAE reveal a plethora of molecules from the complement, coagulation, and fibrinolysis systems or from the vascular endothelium, which may serve as biomarkers. The most promising candidates, together with their laboratory readout systems, should be evaluated with regard to their analytical and clinical validity and utility. To be highly specific, such biomarkers should be linked to the pathomechanisms of HAE, particularly the bradykinin-generating cascade. Additionally, major advances in high-throughput omics-based technologies may facilitate the discovery of new candidate biomarkers in the future. This review will cover the existing as well as future potential biomarkers that will support the diagnosis, monitor disease activity, and can be used to assess the efficacy of new avenues of therapy of HAE and other forms of angioedema.

生物标志物是一种定义的特征，可作为对暴露或干预的正常、生物、致病过程或生物反应的指标进行测量。诊断生物标志物用于检测疾病或疾病的亚型；连续测量监测生物标志物以评估医疗状况；反应生物标志物用于检查医疗干预后的生物反应；预测性生物标志物用于识别更有可能对医疗干预做出反应的患者；和预后生物标志物用于评估临床事件的未来可能性。尽管生物标志物已在许多疾病和病理中得到广泛研究和验证，但目前很少有用于诊断、评估疾病活动性和治疗遗传性血管性水肿 (HAE) 的生物标志物。HAE 中涉及的病理生理学途径揭示了来自补体、凝血和纤溶系统或来自血管内皮的大量分子，这些分子可作为生物标志物。最有希望的候选者及其实验室读数系统，应在其分析和临床有效性和实用性方面进行评估。为了高度特异性，此类生物标志物应与 HAE 的病理机制相关联，尤其是产生缓激肽的级联反应。此外，基于高通量组学的技术的重大进步可能会促进未来新候选生物标志物的发现。本综述将涵盖现有和未来的潜在生物标志物，这些生物标志物将支持诊断、监测疾病活动、