Retinal vascular occlusion: a window to diagnosis of familial and acquired thrombophilia and hypofibrinolysis, with important ramifications for pregnancy outcomes

Abstract

AimOur specific aim was to document the pathoetiologic importance of thrombophilia among females presenting with severe ischemic retinal vein (RVO) or retinal artery (RAO) occlusion, without typical risk factors, and to emphasize that the ophthalmologists’ diagnosis of thrombophilia has important diagnostic and therapeutic downstream ramifications for nonocular thrombosis, including reproductive outcomes.MethodsWe evaluated familial and acquired thrombophilia in 60 females with RVO (central RVO, n=52; branch RVO, n=8) and 16 with RAO (central RAO, n=11; branch RAO, n=5). They were referred by retinologists, without typical risk factors for RVO/RAO and/or severe ocular ischemic presentation. We focused on extraocular thrombotic events, particularly pregnancy complications, including unexplained spontaneous abortion, pre-eclampsia–eclampsia. Thrombophilia measurements in the 76 females were compared with 62 healthy normal females without ocular vascular occlusions (OVOs).ResultsThe 76 females with OVO were more likely than 62 normal female controls to have high homocysteine (24% vs 0%, P<0.0001), high anticardiolipin antibody (immunoglobulin M, 17% vs 3%, P=0.012), high (>150%) factor VIII (42% vs 11%, P<0.0001), and high (>150%) factor XI (22% vs 4%, P=0.004). Of the 76 females, 26 (34%) had ≥1 spontaneous abortion; 17 (22%) had ≥2 spontaneous abortions and/or pre-eclampsia–eclampsia. Compared to 62 healthy female controls, these 17 females with pregnancy complications had high homocysteine (29% vs 0%, P=0.0003), high anticardiolipin antibody immunoglobulin M (24% vs 3%, P=0.02), high factor VIII (38% vs 11%, P=0.02), and were marginally more likely to be heterozygous for the factor V Leiden mutation (19% vs 3%, P=0.058).ConclusionIn females lacking typical risk factors for retinal vascular occlusion or severely ischemic presentation, by diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy, with particular relevance to pregnancy outcomes and venous thromboembolism.

Thrombophilic risk factors for retinal vein occlusion

“…Overall, more than the relative prevalence of polymorphisms found in RVO, it is the association of thermolabile MTHFR polymorphisms and younger age at diagnosis that seems to be more relevant. This is important, because the ophthalmologist may be the first physician to identify patients suffering from thrombophilia and prone to systemic complications 39 , particularly in younger patients 8,10,40 . While we do realize that RVO is not a single defined disease, but a complex group of diseases where individualized and local factors play a role along with systemic and hematologic factors, search for TRF in the younger group may yield some clues about the patients at risk for recurrent RVO or complications of systemic arteriovenous occlusive disease 4,7 .…”

Thrombophilia and Retina

“…[7] Retinal vasküler oklüzyon gelişen hastalarda özellikle daha genç ve eşlik eden risk faktörü olmayan hastalarda olası trombofili tanısını koyan ve trombofili değerlendirilmesini başlatan klinisyen göz hekimi olmaktadır. [9] Trombofili için tarama testlerini her hastaya yapmak makul değildir. Ancak tarama testleri, öncesinde tromboembolik olay öyküsü olan yaşlı hastalarda ve herhangi bir risk faktörü olmayan genç hastalarda mutlaka yapılmalıdır.…”