Valeriani Emanuele, Pastori Daniele, Astorri Giulia, Porfidia Angelo, Menichelli Danilo, Pignatelli Pasquale
Department of General Surgery and Surgical Specialty, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy; Department of Infectious Disease, Umberto I Hospital, Viale del Policlinico 155, Rome, Italy.
Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.
Thromb Res. 2023 Oct;230:74-83. doi: 10.1016/j.thromres.2023.08.006. Epub 2023 Aug 16.
The role of inherited thrombophilia in arterial disease is uncertain. We performed a systematic-review and meta-analysis of inherited thrombophilia in cerebrovascular (CVD), coronary heart (CHD), and peripheral artery disease (PAD) patients.
MEDLINE and EMBASE were searched up to February 2022. Pooled prevalences (PPs) and odds ratios (ORs) with 95 % confidence intervals (95%CI) were calculated in a random-effects model. Factor V Leiden (G1691A), prothrombin (G20210A), MTHFR C677T/A1298C and PAI-1 4G/5G were evaluated.
377 studies for 98,186 patients (32,791 CVD, 62,266 CHD, 3129 PAD) and 108,569 controls were included. Overall, 37,249 patients had G1691A, 32,254 G20210A, 42,546 MTHFR C677T, 8889 MTHFR A1298C, and 19,861 PAI-1 4G/5G gene polymorphisms. In CVD patients, PPs were 6.5 % for G1691A, 3.9 % for G20210A, 56.4 % for MTHFR C677T, 51.9 % for MTHFR A1298C, and 77.6 % for PAI-1. In CHD, corresponding PPs were 7.2 %, 3.8 %, 52.3 %, 53.9 %, and 76.4 %. In PAD, PPs were 6.9 %, 4.7 %, 55.1 %, 52.1 %, and 75.0 %, respectively. Strongest ORs in CVD were for homozygous G1691A (2.76; 95 %CI, 1.83-4.18) and for homozygous G20210A (3.96; 95 %CI, 2.05-7.64). Strongest ORs in CHD were for homozygous G1691A (OR 1.68; 95%CI, 1.02-2.77) and G20210A (heterozygous 1.49 95%CI, 1.22-1.82; homozygous 1.54 95%CI, 0.79-2.99). The OR for PAI-1 4G/4G in PAD was 5.44 (95%CI, 1.80-16.43). Specific subgroups with higher PPs and ORs were identified according to age and region.
Patients with arterial disease have an increased prevalence and odds of having some inherited thrombophilia. Some thrombophilia testing may be considered in specific subgroups of patients.
遗传性血栓形成倾向在动脉疾病中的作用尚不确定。我们对脑血管疾病（CVD）、冠心病（CHD）和外周动脉疾病（PAD）患者的遗传性血栓形成倾向进行了系统评价和荟萃分析。
检索截至2022年2月的MEDLINE和EMBASE数据库。采用随机效应模型计算合并患病率（PPs）和比值比（ORs）及其95%置信区间（95%CI）。评估了凝血因子V莱顿（G1691A）、凝血酶原（G20210A）、亚甲基四氢叶酸还原酶（MTHFR）C677T/A1298C和纤溶酶原激活物抑制剂-1（PAI-1）4G/5G。
纳入了针对98186例患者（32791例CVD、62266例CHD、3129例PAD）和108569例对照的377项研究。总体而言，37249例患者存在G1691A、32254例存在G20210A、42546例存在MTHFR C677T、8889例存在MTHFR A1298C以及19861例存在PAI-1 4G/5G基因多态性。在CVD患者中，G169A的PPs为6.5%，G20210A为3.9%，MTHFR C677T为56.4%，MTHFR A1298C为51.9%，PAI-1为77.6%。在CHD中，相应的PPs分别为为7.2%、3.8%、52.3%、53.9%和76.4%。在PAD中，PPs分别为6.9%、4.7%、55.1%、52.1%和75.0%。CVD中最强的ORs见于纯合子G1691A（2.76；95%CI，1.83 - 4.18）和纯合子G20210A（3.96；95%CI，2.05 - 7.64）。CHD中最强的ORs见于纯合子G1691A（OR 1.68；95%CI，1.02 - 2.77）和G20210A（杂合子1.49，95%CI，1.22 - 1.82；纯合子1.54，95%CI，0.79 - 2.99）。PAD中PAI-1 4G/4G的OR为5.44（95%CI，1.80 - 16.43）。根据年龄和地区确定了PPs和ORs较高的特定亚组。
动脉疾病患者存在某些遗传性血栓形成倾向的患病率和几率增加。对于特定亚组患者可考虑进行某些血栓形成倾向检测。
