Clinical Features of Visual Disturbances in Leiden Thrombophilia
https://doi.org/10.18008/1816-5095-2019-4-487-493
Abstract
The hereditary thrombophilias is a well-recognized important risk factor for a systemic and local thromboembolic events development. The case of Leiden thrombophilia family inheritance concomitant by the visual disturbances development are shown in this аrticle. Most 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 with a prothrombotic mutation in the coagulation factor V gene (Leiden factor) in a greater degree; herewith the risk of thrombotic complications 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 action of the activated protein C which is a natural endogenous anticoagulant protein. Resistance development leads to a deceleration of 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 of interest. Along with the hereditary hemostatic system abnormality, the patient also had cardiovascular risk factors (hypertensive disease, atherosclerosis) which had a potentiating effect on the occlusion development. Taking into account the autosomal dominant nature of the Leiden mutation inheritance, the patient’s only daughter was examined; brief episodes of amaurosis fugax against the background of headaches similar to migraine were detected due to ophthalmological abnormalities. For verification of the Leiden thrombophilia diagnosis, both patients underwent molecular genetic diagnostics. Currently there are no large prospective studies showing the optimal and economically viable approach for identification of thrombophilia genetic polymorphisms in patients with retinal vascular occlusions in daily clinical experience. Possible additional risk factors for thrombembolias development, prevention services for manifest and recurrent vascular occlusions in patients with hereditary blood coagulation system abnormalities and their relatives are discussed in this article.
occlusion of the central retinal artery (CRA) in a middle-aged patient with a heterozygous form of Leiden thrombophilia is the subject of interest. Along with the hereditary hemostatic system abnormality, the patient also had cardiovascular risk factors (hypertensive disease, atherosclerosis) which had a potentiating effect on the occlusion development. Taking into account the autosomal dominant nature of the Leiden mutation inheritance, the patient’s only daughter was examined; brief episodes of amaurosis fugax against the background of headaches similar to migraine were detected due to ophthalmological abnormalities. For verification of the Leiden thrombophilia diagnosis, both patients underwent molecular genetic diagnostics. Currently there are no large prospective studies showing the optimal and economically viable approach for identification of thrombophilia genetic polymorphisms in patients with retinal vascular occlusions in daily clinical experience. Possible additional risk factors for thrombembolias development, prevention services for manifest and recurrent vascular occlusions in patients with hereditary blood coagulation system abnormalities and their relatives are discussed in this article.
About the Authors
E. E. Ioyleva
The S. Fyodorov Eye Microsurgery Federal State Institution,
A.I. Yevdokimov Moscow State University of Medicine and Dentistry
Russian Federation
Russian Federation
MD, PhD, professor
Beskudnikovsky blvd, 59a, Moscow, 127486, Russian Federation
Delegatskaya str., 20, build. 1, Moscow, 127473, Russian Federation
A. V. Zinov’eva
A.I. Yevdokimov Moscow State University of Medicine and Dentistry
Russian Federation
Russian Federation
resident
Delegatskaya str., 20, build. 1, Moscow, 127473, Russian Federation
References
1. Schockman S., Glueck C.J., Hutchins R.K., Patel J., Shah P., Wang P. Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity. Clinical Ophthalmology. 2015;9:591–600. DOI: 10.2147/OPTH.S80714
2. Nagy V., Takacs L., Steiber Z, Pfliegler G., Berta A. Thrombophilic screening in retinal artery occlusion patients. Clinical Ophthalmology. 2008;2(3):557–561.
3. Pianka P., Almog Y., Man O., Goldstein M., Sela B.A., Loewenstein A. Hyperhomocystinemia in patients with nonarteritic anterior ischemic optic neuropathy, central retinal artery occlusion, and central retinal vein occlusion. Ophthalmology. 2000;107(8):1588–1592. DOI: 10.1016/S0161‑6420(00)00181‑0
4. Salomon O., Huna‑Baron R., Moisseiev J., Rosenberg N., Rubovitz A., Steinberg D.M., Davidson J., Sela B.A., Seligsohn U. Thrombophilia as a cause for central and branch retinal artery occlusion in patients without an apparent embolic source. Eye. 2001;15(4):511–514. DOI: 10.1038/eye.2001.164
5. Murin S., Marelich G.P., Arroliga A.C., Matthay R.A. Hereditary Thrombophilia and Venous Thromboembolism. American Journal of Respiratory and Critical Care Medicine. 1998;158(5):1369–1373. DOI: 10.1164/ajrccm.158.5.9712022
6. De Stefano V., Chiusolo P., Paciaroni K., Leone G. Epidemiology of factor V Leiden: clinical implications. Seminars in Thrombosis and Hemostasis. 1998;24(4):367–379. DOI: 10.1055/s‑2007‑996025
7. Kujovich J.L. Factor V Leiden thrombophilia. Genetics IN Medicine. 2011;13:1–16. DOI: 10.1097/GIM.0b013e3181faa0f2
8. Nagy V., Facsko A., Takacs L., Balazs E., Berta A., Balogh I., Edes I., Czuriga I., Pfliegler G. Activated protein C resistance in anterior ischaemic optic Neuropathy. Acta Ophthalmologica Scandinavica. 2004;82:140–143. DOI: 10.1111/j.1600‑0420.2004.00226.x
9. Gottlieb J.L., Blice J.P., Mestichelli B., Konkle B.A., Benson W.E. Activated Protein C Resistance, Factor V Leiden, and Central Retinal Vein Occlusion in Young Adults. Archives of Ophthalmology. 1998;116(5):577–579. DOI: 10.1001/archopht.116.5.577
10. Dhar‑Munshi S., Ayliffe W.H., Jayne D. Branch Retinal Arteriolar Occlusion Associated with Familial Factor V Leiden Polymorphism and Positive Rheumatoid Factor. Archives of Ophthalmology. 1999;117(7):978–979.
11. Rosendaal F.R., Siscovick D.S., Schwartz S.M., Beverly R.K., Psaty B.M., Longstreth W.T. Jr, Raghunathan T.E., Koepsell T.D., Reitsma P.H. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood. 1997;89:2817–2821.
12. Mannucci P.M. Fine particulate: it matters. Journal of Thrombosis and Haemostasis. 2010;8:659–661. DOI: 10.1111/j.1538‑7836.2010.03804.x
13. Margaglione M., D’Andrea G., Giuliani N., et al. Inherited prothrombotic conditions and premature ischemic stroke: sex difference in the association with factor V Leiden. Arteriosclerosis, Thrombosis, and Vascular Biology. 1999;19:1751–1756.
14. Backhouse O., Parapia L., Mahomed I., Lee D. Familial thrombophilia and retinal vein occlusion. Eye. 2000;14:13–17. DOI: 10.1038/eye.2000.4
15. Talman T., Scharf J., Meyer E., Lanir N. Miller B., Brenner B. Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. American Journal of Ophthalmology. 1997;124(5):689–691.
16. Tayyanipour R., Pulido J.S., Postel E.A., Lipkowitz J.L., Pisciotta A., Braza E. Arterial vascular occlusion associated with factor V Leiden gene mutation. Retina. 1998;18:376–377.
17. Bessero A.C., Borruat F.X. Visual dysfunction and arterial occlusion: is there an association with factor V Leiden mutation? Four case reports. Journal Francais D’Opthalmologie. 2006;29:43–46.
18. Frye R.E. Transient Visual Loss Associated with the Factor V Leiden Mutation. North American Journal of Medicine and Science. 2017;10(2):61–64. DOI: 10.7156/najms.2017.1002061
19. Cursiefen C., Schonherr U., Schwender S., Grossmann R. Recurrent optic nerve headinfarctions associated with combined factor V Leiden‑ and factor II:G20210A‑mutation. Acta Ophthalmologica Scandinavica. 1999;77:625–627.
20. Lorca‑Barchín J., Medrano‑Martínez V., Francés‑Pont I., Fernández‑Izquierdo S., Mallada‑Frechin J., Piqueras‑Rodríguez L. Non‑Arteritic Anterior Ischemic Optic Neuropathy and Factor V Leiden. Journal of Neurological Disorders. 2015;2(3):303.
21. Pizova N.V., Stepanova M.V. Thrombophilia associated with resistance to activated protein C: genetic polymorphisms and stroke. Neurological Journal = Nevrologicheskiy zhurnal. 2012;6:4–11 (In Russ.)
22. Kapiotis S., Quehenberger P., Jilma B., Handler S., Pabinger‑Fasching I., Mannhalter C., Speiser W. Improved characteristics of aPC‑resistance assay: Coatest aPC resistance by predilution of samples with factor V deficient plasma. American Journal of Clinical Pathology. 1996;106:588–593. DOI: 10.1093/ajcp/106.5.588
23. Grody W.W., Griffin J.H., Taylor A.K., Korf B.R., Heit J.A. Factor V Leiden Working Group. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genetics in Medicine. 2001;3:139–148. DOI: 10.109700125817‑200103000‑00009
24. Press R.D., Bauer K.A., Kujovich J.L., Heit J.A. Clinical utility of factor V Leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Archives of Pathology & Laboratory Medicine. 2002;126(11):1304–1318. DOI: 10.1043/0003‑9985(2002)126<1304:CUOFVL>2.0.CO;2
Review
For citations:
Ioyleva E.E., Zinov’eva A.V. Clinical Features of Visual Disturbances in Leiden Thrombophilia. Ophthalmology in Russia. 2019;16(4):487-493. (In Russ.) https://doi.org/10.18008/1816-5095-2019-4-487-493
Views:
1696
Email this article 