Czerlanis Cheryl, Jay Walter M, Nand Sucha
Department of Medicine, Loyola University Medical Center, Maywood, IL 60153, USA.
Semin Ophthalmol. 2008 Mar-Apr;23(2):111-9. doi: 10.1080/08820530801888154.
Inherited thrombophilic disorders are a well-recognized risk factor for systemic thromboembolism. These disorders include deficiencies of anticoagulant proteins such as protein C, protein S, and antithrombin III, abnormalities of factor V and prothrombin resulting from genetic mutations, and hyperhomocysteinemia. Except for hyperhomocysteinemia, which has been associated with both venous and arterial thrombosis, the other heritable disorders primarily cause venous thromboembolism. We have reviewed the association between heritable thrombophilia and the development of thrombosis in the eye. The available literature consists of case-control studies and case reports. Preliminary data suggest a relationship between thrombotic disorders of the eye and the inherited hypercoagulable states. Some reports show a risk of thrombosis with the presence of factor V Leiden and hyperhomocysteinemia but these associations frequently disappear upon multivariate analysis. It is possible that inherited thrombophilia plays a supportive role to well-established risk factors such as hypertension and diabetes. Larger, well-designed studies will be necessary to clearly define the role of inherited thrombophilia in the development of thrombotic disorders of the eye.
遗传性血栓形成倾向疾病是公认的全身性血栓栓塞危险因素。这些疾病包括抗凝蛋白缺乏，如蛋白C、蛋白S和抗凝血酶III缺乏，因基因突变导致的因子V和凝血酶原异常，以及高同型半胱氨酸血症。除了与静脉和动脉血栓形成均有关的高同型半胱氨酸血症外，其他遗传性疾病主要导致静脉血栓栓塞。我们回顾了遗传性血栓形成倾向与眼部血栓形成之间的关联。现有文献包括病例对照研究和病例报告。初步数据表明眼部血栓性疾病与遗传性高凝状态之间存在关联。一些报告显示存在因子V莱顿突变和高同型半胱氨酸血症时存在血栓形成风险，但这些关联在多变量分析后常常消失。遗传性血栓形成倾向可能对高血压和糖尿病等已明确的危险因素起辅助作用。需要开展更大规模、设计良好的研究来明确遗传性血栓形成倾向在眼部血栓性疾病发生中的作用。
