Особенности зрительных нарушений при тромбофилии Лейдена

Abstract

The hereditary thrombophilias is a well-recognized important risk factor for a systemic and local thromboembolic events development.\xa0The case of Leiden thrombophilia family inheritance concomitant by the visual disturbances development are shown in this аrticle.\xa0Most commonly in hereditary thrombophilias, venous thrombembolias occur, arterial occlusions which have been reported in the recent literature only as individual clinical cases occur more rarely. In the European population hereditary thrombophilias are associated\xa0with a prothrombotic mutation in the coagulation factor V gene (Leiden factor) in a greater degree; herewith the risk of thrombotic\xa0complications is increasing significantly in homozygous polymorphism forms. Presence of combined mutations in several clotting factors also leads to risk of thrombembolias increase. Consequence of the Leiden mutation is a V activator resistance to the resolving\xa0action of the activated protein C which is a natural endogenous anticoagulant protein. Resistance development leads to a deceleration\xa0of V factor inactivation and to increasing of the thrombin amount. In the work presented here, development of the consistent bilateral occlusion of the central retinal artery (CRA) in a middle-aged patient with a heterozygous form of Leiden thrombophilia is the subject\xa0of interest. Along with the hereditary hemostatic system abnormality, the patient also had cardiovascular risk factors (hypertensive\xa0disease, atherosclerosis) which had a potentiating effect on the occlusion development. Taking into account the autosomal dominant\xa0nature of the Leiden mutation inheritance, the patient’s only daughter was examined; brief episodes of amaurosis fugax against the\xa0background of headaches similar to migraine were detected due to ophthalmological abnormalities. For verification of the Leiden\xa0thrombophilia diagnosis, both patients underwent molecular genetic diagnostics. Currently there are no large prospective studies\xa0showing the optimal and economically viable approach for identification of thrombophilia genetic polymorphisms in patients with retinal\xa0vascular occlusions in daily clinical experience. Possible additional risk factors for thrombembolias development, prevention services\xa0for manifest and recurrent vascular occlusions in patients with hereditary blood coagulation system abnormalities and their relatives\xa0are discussed in this article.