Expert consensus on the diagnosis and treatment of thrombophilia in Guangdong Province

doi:10.3969/j.issn.1009-976X.2023.05.001

Abstract

Abstract: Thrombophilia refers to a pathological condition where the risk of thrombosis is increased due to various genetic or acquired factors. The main clinical outcome of thrombophilia is venous thromboembolism （VTE）, which can manifest in various forms such as deep vein thrombosis （DVT）, pulmonary embolism （PE）, cerebral venous thrombosis （CVT）, portal vein thrombosis （PVT）, and mesenteric vein thrombosis （MVT）. Moreover, thrombophilia also can cause arterial thrombotic events like early-onset acute coronary syndrome and ischemic stroke. Thrombophilia is typically categorized into two main types,genetic and acquired type. Genetic thrombophilia results from inherent defects in the body's anticoagulation or coagulation system, leading to a hypercoagulable state. Patients with thrombophilia often develop thrombotic condition at a young age, and once it occurs, it can lead to severe consequences. In order to enhance the diagnostic and treatment capabilities of clinical doctors in Guangdong Province and provide guidance and standardization for the diagnosis and treatment of thrombophilia at various levels of hospitals, a multidisciplinary team （MDT） of experts in the field of thrombosis was formed. After extensive discussions and seeking opinions from various sources, this consensus document was developed. It primarily focuses on the diagnosis and treatment of genetic thrombophilia and special population prone to clot formation, aiming to provide guidance for clinical decision-making in the management of thrombophilia. This consensus will be regularly revised and updated based on advances in domestic and international research.

Key words: thrombophilia, coagulation function, diagnosis and treatment, consensus

摘要： 易栓症（thrombophilia）,是指因各种遗传性或获得性因素导致容易发生血栓形成和血栓栓塞的病理状态,其主要临床结局为静脉血栓栓塞症（venous thromboembolism,VTE）。易栓症导致VTE可能表现为多种形式,如深静脉血栓形成（deep vein thrombosis,DVT）、肺栓塞（pulmonary embolism,PE）、颅内静脉血栓形成（cerebral venous thrombosis, CVT）、门静脉血栓形成（Portal vein thrombosis,PVT）、肠系膜静脉血栓形成（mesenteric vein thrombosis,MVT）等。除此之外,易栓症还可表现为年轻早发的急性冠脉综合征、缺血性卒中等动脉血栓事件。通常可将易栓症分成两大类：遗传性易栓症和获得性易栓症,其中遗传性易栓症为人体自身抗凝或凝血系统等的先天缺陷导致血液处于高凝状态。临床上,易栓症患者往往发病年龄早,而且一旦发病,常导致非常严重的后果。为了提高广东省临床医生对于易栓症及其继发疾病的诊治水平,指导和规范广东省地区各级医院对易栓症的诊治工作,从事血栓相关领域的专家组成多学科协作小组（Multidisciplinary team, MDT）,经过反复研讨,并广泛征求意见,制定本共识,主要针对遗传性易栓症以及特殊易栓人群的诊疗,为易栓症的临床诊疗决策提供参考。本共识将根据国内外研究进展定期修订与更新。

关键词: 易栓症, 凝血功能, 诊治, 共识

CLC Number:

R654.3

Guangdong Province Precision Medicine Association Hematology Branch Hemostasis Youth Committee, Expert Consensus Writing Group on the Diagnosis, Treatment of Thrombophilia in Guangdong Province. Expert consensus on the diagnosis and treatment of thrombophilia in Guangdong Province[J]. Lingnan Modern Clinics In Surgery, 2023, 23(05): 367-378.

广东省精准医学会血液分会出凝血青年专委会, 广东省易栓症多学科专家共识编写组. 广东省易栓症诊治多学科专家共识[J]. 岭南现代临床外科, 2023, 23(05): 367-378.

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