Zhu Xi-Jie, Liu Zi-Yi, Wang Pei-Wen, Wang Jia, Wen Shi-Di, Zhang Jie-Xin, Zhu Yong-Jian, Sun Ming-Li, Xu Xi-Qi, Sun Kai, Lian Tian-Yu, Cheng Chun-Yan, Jing Zhi-Cheng
Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Perinatal Institute and Section of Neonatology, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Res Pract Thromb Haemost. 2023 Aug 2;7(6):102157. doi: 10.1016/j.rpth.2023.102157. eCollection 2023 Aug.
Various inherited traits contribute to the overall risk of venous thromboembolism (VTE). In addition, the epidemiology of thrombophilia in the East-Asian VTE population remains unclear; thus, we aimed to assess the proportion of hereditary thrombophilia via a meta-analysis.
Publications from PubMed, EMBASE, web of science, and Cochrane before December 30, 2022, were searched. Studies from Japan, Korea, China, Hong Kong, Taiwan, Singapore, Thailand, Vietnam, Myanmar, and Cambodia were included. Congenital thrombophilia was described as diseases including protein C (PC) deficiency, protein S (PS) deficiency, antithrombin (AT) deficiency, factor (F)V Leiden (FVL), and prothrombin G20210A mutations. Studies were selected by 2 reviewers for methodological quality analysis. A random-effects model was used for the meta-analysis, assuming that estimated effects in the different studies are not identical.
Forty-four studies involving 6453 patients from 7 counties/regions were included in the meta-analysis. The prevalence of PC, PS, and AT deficiencies were 7.1%, 8.3%, and 3.8%, respectively. Among 2924 patients from 22 studies, 5 patients were carriers of FVL mutation. Among 2196 patients from 10 studies, 2 patients were carriers of prothrombin G20210A mutation in a Thailand study.
The prevalence of PC, PS, and AT deficiencies was relatively high, while a much lower prevalence of FVL and prothrombin G20210A mutations were identified in East-Asian patients with VTE. Our data stress the relative higher prevalence of PC, PS, and AT deficiencies for thrombophilia in the East-Asian VTE population.
多种遗传特征会影响静脉血栓栓塞症（VTE）的总体风险。此外，东亚VTE人群中血栓形成倾向的流行病学情况仍不明确；因此，我们旨在通过荟萃分析评估遗传性血栓形成倾向的比例。
检索了2022年12月30日前发表于PubMed、EMBASE、科学网和Cochrane的文献。纳入了来自日本、韩国、中国、中国香港、中国台湾、新加坡、泰国、越南、缅甸和柬埔寨的研究。先天性血栓形成倾向被描述为包括蛋白C（PC）缺乏症、蛋白S（PS）缺乏症、抗凝血酶（AT）缺乏症、因子（F）V Leiden（FVL）和凝血酶原G20210A突变等疾病。由两名评审员选择研究进行方法学质量分析。采用随机效应模型进行荟萃分析，假设不同研究中的估计效应不相同。
荟萃分析纳入了涉及7个国家/地区6453例患者的44项研究。PC、PS和AT缺乏症的患病率分别为7.1%、8.3%和3.8%。在22项研究的2924例患者中，有5例为FVL突变携带者。在10项研究的2196例患者中，泰国一项研究中有2例为凝血酶原G20210A突变携带者。
PC、PS和AT缺乏症的患病率相对较高，而在东亚VTE患者中，FVL和凝血酶原G20210A突变的患病率要低得多。我们的数据强调了在东亚VTE人群中，PC、PS和AT缺乏症在血栓形成倾向方面的相对较高患病率。
