Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

Samantha Schockman,1 Charles J Glueck,2,3 Robert K Hutchins,4,5 Jaykumar Patel,2 Parth Shah,2 Ping Wang2 1Internal Medicine Residency Program, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 2Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohi...

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Autores principales:	Schockman S, Glueck CJ, Hutchins RK, Patel J, Shah P, Wang P
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2015
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/f85c68caf5e841709cff9c0f5752302e
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spelling	oai:doaj.org-article:f85c68caf5e841709cff9c0f5752302e2021-12-02T05:30:26ZDiagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity1177-5483https://doaj.org/article/f85c68caf5e841709cff9c0f5752302e2015-04-01T00:00:00Zhttp://www.dovepress.com/diagnostic-ramifications-of-ocular-vascular-occlusion-as-a-first-throm-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483 Samantha Schockman,1 Charles J Glueck,2,3 Robert K Hutchins,4,5 Jaykumar Patel,2 Parth Shah,2 Ping Wang2 1Internal Medicine Residency Program, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 2Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 3Mercy Health Physicians, Mercy Health, Cincinnati, Ohio, USA; 4Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA; 5Cincinnati Eye Institute, Cincinnati, Ohio, USA Aim: This study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL) and/or prothrombin gene (PTG) heterozygosity. Methods: Patients with ocular vein (n=191) and artery (n=74) occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls. Results: Of the 265 patients, 29 (11%; 17 women, 12 men) of all referred ocular vascular occlusion (OVO) cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO), 2 branch retinal vein occlusion (BRVO), 5 nonarteritic anterior ischemic optic neuropathy (NA-AION), 3 retinal artery occlusion (RAO), 2 amaurosis fugax (AF), and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94%) had OVO as a first thrombotic event without prior deep venous thrombosis (DVT) or pulmonary embolism (PE); 6 (38%) also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31%) had immediate family members with previous venous thromboembolism (VTE). Of the 12 PTG cases, 9 (75%) had OVO as a first thrombotic event, 5 (42%) experienced VTE other than DVT or PE, and 6 (50%) had immediate family members with VTE. In one patient with both FVL and PTG, DVT occurred before BRVO. Of the 17 women with FVL and/or PTG mutations, 7 (41%) experienced ≥1 miscarriage, 6 (35%) were on estrogen therapy, and 1 (6%) was on clomiphene. Conclusion: Of the 265 patients with OVO, 29 (11%) had FVL and/or PTG, and 83% of these 29 cases presented with OVO as their first thrombotic event. By diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy. Keywords: factor V Leiden, prothrombin gene mutation, ocular vascular occlusion, retinal vein occlusion, retinal artery occlusion, anterior ischemic optic neuropathySchockman SGlueck CJHutchins RKPatel JShah PWang PDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2015, Iss default, Pp 591-600 (2015)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Schockman S Glueck CJ Hutchins RK 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
description	Samantha Schockman,1 Charles J Glueck,2,3 Robert K Hutchins,4,5 Jaykumar Patel,2 Parth Shah,2 Ping Wang2 1Internal Medicine Residency Program, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 2Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 3Mercy Health Physicians, Mercy Health, Cincinnati, Ohio, USA; 4Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA; 5Cincinnati Eye Institute, Cincinnati, Ohio, USA Aim: This study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL) and/or prothrombin gene (PTG) heterozygosity. Methods: Patients with ocular vein (n=191) and artery (n=74) occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls. Results: Of the 265 patients, 29 (11%; 17 women, 12 men) of all referred ocular vascular occlusion (OVO) cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO), 2 branch retinal vein occlusion (BRVO), 5 nonarteritic anterior ischemic optic neuropathy (NA-AION), 3 retinal artery occlusion (RAO), 2 amaurosis fugax (AF), and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94%) had OVO as a first thrombotic event without prior deep venous thrombosis (DVT) or pulmonary embolism (PE); 6 (38%) also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31%) had immediate family members with previous venous thromboembolism (VTE). Of the 12 PTG cases, 9 (75%) had OVO as a first thrombotic event, 5 (42%) experienced VTE other than DVT or PE, and 6 (50%) had immediate family members with VTE. In one patient with both FVL and PTG, DVT occurred before BRVO. Of the 17 women with FVL and/or PTG mutations, 7 (41%) experienced ≥1 miscarriage, 6 (35%) were on estrogen therapy, and 1 (6%) was on clomiphene. Conclusion: Of the 265 patients with OVO, 29 (11%) had FVL and/or PTG, and 83% of these 29 cases presented with OVO as their first thrombotic event. By diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy. Keywords: factor V Leiden, prothrombin gene mutation, ocular vascular occlusion, retinal vein occlusion, retinal artery occlusion, anterior ischemic optic neuropathy
format	article
author	Schockman S Glueck CJ Hutchins RK Patel J Shah P Wang P
author_facet	Schockman S Glueck CJ Hutchins RK Patel J Shah P Wang P
author_sort	Schockman S
title	Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity
title_short	Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity
title_full	Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity
title_fullStr	Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity
title_full_unstemmed	Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity
title_sort	diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor v leiden and prothrombin gene heterozygosity
publisher	Dove Medical Press
publishDate	2015
url	https://doaj.org/article/f85c68caf5e841709cff9c0f5752302e
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Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

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