Romiti Giulio Francesco, Corica Bernadette, Borgi Marco, Visioli Giacomo, Pacella Elena, Cangemi Roberto, Proietti Marco, Basili Stefania, Raparelli Valeria
Department of Translational and Precision Medicine, Sapienza - University of Rome, Rome, Italy.
Department of Sense Organs, Sapienza - University of Rome, Rome, Italy.
J Thromb Haemost. 2020 Dec;18(12):3249-3266. doi: 10.1111/jth.15068. Epub 2020 Oct 6.
Retinal vascular occlusion is a leading cause of sight loss. Both retinal artery occlusion (RAO) and retinal vein occlusion (RVO) have been associated with hypercoagulable states; however, the burden of thrombophilia in these patients is unclear.
This study aims at estimating the prevalence of inherited and acquired thrombophilias in adults with RAO or RVO through a systematic review and meta-analysis of the literature.
PATIENTS/METHODS: PubMed and EMBASE were systematically searched from inception to 29 February 2020. All studies reporting prevalences of factor V Leiden (FVL) and prothrombin (F-II) G20210A mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and plasminogen activator inhibitor (PAI) 4G polymorphisms, antithrombin III (AT-III), protein C (PC) and protein S (PS) activity deficiencies, hyperhomocysteinemia, and antiphospholipid (APL) antibodies in adults with RAO or RVO were included. Pooled prevalences and 95% confidence intervals (CI) were calculated.
Ninety-five studies were included; FVL and F-II mutations were found in 6% (95% CI: 5-8) and 3% (95% CI: 2-4) of individuals with RVO, respectively, whereas AT-III, PC, and PS activity deficiencies were found in <2%. The MTHFR C677T and PAI 4G homozygous polymorphism were observed in 13% (95% CI: 10-17) and 23% (95% CI: 16-31) of RVO, respectively; 8% presented APL antibodies. Similar findings were observed in individuals with RAO.
Compared with healthy subjects, patients with retinal vascular occlusion showed similar prevalences of inherited and acquired thrombophilias. These findings do not support routine thrombophilia screening in individuals with RAO or RVO.
视网膜血管阻塞是视力丧失的主要原因。视网膜动脉阻塞（RAO）和视网膜静脉阻塞（RVO）均与高凝状态有关；然而，这些患者中血栓形成倾向的负担尚不清楚。
本研究旨在通过对文献进行系统评价和荟萃分析，估计患有RAO或RVO的成年人中遗传性和获得性血栓形成倾向的患病率。
患者/方法：从数据库建立至2020年2月29日，对PubMed和EMBASE进行系统检索。纳入所有报告患有RAO或RVO的成年人中因子V莱顿（FVL）和凝血酶原（F-II）G20210A突变、亚甲基四氢叶酸还原酶（MTHFR）C677T和纤溶酶原激活物抑制剂（PAI）4G多态性、抗凝血酶III（AT-III）、蛋白C（PC）和蛋白S（PS）活性缺乏、高同型半胱氨酸血症以及抗磷脂（APL）抗体患病率的研究。计算合并患病率和95%置信区间（CI）。
纳入95项研究；RVO患者中分别有6%（95%CI：5-8）和3%（95%CI：2-4）发现FVL和F-II突变，而AT-III、PC和PS活性缺乏的发现率<2%。RVO患者中分别有13%（95%CI：10-17）和23%（95%CI：16-31）观察到MTHFR C677T和PAI 4G纯合多态性；8%存在APL抗体。RAO患者中观察到类似结果。
与健康受试者相比，视网膜血管阻塞患者遗传性和获得性血栓形成倾向的患病率相似。这些发现不支持对RAO或RVO患者进行常规血栓形成倾向筛查。
