Department of Clinical and Environmental Allergology, Jagiellonian University Medical College, Krakow, Poland.
Department of Immunology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.
Clin Rev Allergy Immunol. 2021 Jun;60(3):404-415. doi: 10.1007/s12016-021-08845-6. Epub 2021 Feb 9.
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.
生物标志物是一种经过定义的特征，可作为正常生物学、病理过程或对暴露或干预的生物学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亚型；监测生物标志物用于连续测量以评估医疗状况；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；预后生物标志物用于评估临床事件的未来可能性。尽管生物标志物在许多疾病和病理中已经得到广泛研究和验证，但目前很少有生物标志物可用于遗传性血管性水肿 (HAE) 的诊断、疾病活动评估和治疗。HAE 涉及的病理生理途径揭示了来自补体、凝血和纤溶系统或血管内皮的大量分子，这些分子可能作为生物标志物。最有前途的候选标志物及其实验室读数系统应根据其分析和临床有效性和实用性进行评估。为了具有高度特异性，此类生物标志物应与 HAE 的病理机制相关联，特别是缓激肽生成级联。此外，基于高通量组学的技术的重大进展可能会促进未来新候选生物标志物的发现。这篇综述将涵盖现有的和未来潜在的生物标志物，这些标志物将支持 HAE 及其他形式血管性水肿的诊断、监测疾病活动，并可用于评估新治疗途径的疗效。
