Inherited and acquired thrombophilia in adults with retinal vascular occlusion: A systematic review and meta‐analysis

Abstract

Background: Retinal vascular occlusion is a leading cause of sight loss. Both retinal artery occlusion (RAO) and retinal vein occlusion (RVO) have been associated with hypercoagulable states; however, the burden of thrombophilia in these patients is unclear. Objectives: This study aims at estimating the prevalence of inherited and acquired thrombophilias in adults with RAO or RVO through a systematic review and metaanalysis of the literature. Patients/Methods: PubMed and EMBASE were systematically searched from inception to 29 February 2020. All studies reporting prevalences of factor V Leiden (FVL) and prothrombin (F-II) G20210A mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and plasminogen activator inhibitor (PAI) 4G polymorphisms, antithrombin III (AT-III), protein C (PC) and protein S (PS) activity deficiencies, hyperhomocysteinemia, and antiphospholipid (APL) antibodies in adults with RAO or RVO were included. Pooled prevalences and 95% confidence intervals (CI) were calculated. Results: Ninety-five studies were included; FVL and F-II mutations were found in 6% (95% CI: 5-8) and 3% (95% CI: 2-4) of individuals with RVO, respectively, whereas AT-III, PC, and PS activity deficiencies were found in <2%. The MTHFR C677T and PAI 4G homozygous polymorphism were observed in 13% (95% CI: 10-17) and 23% (95% CI: 16-31) of RVO, respectively; 8% presented APL antibodies. Similar findings were observed in individuals with RAO. Conclusions: Compared with healthy subjects, patients with retinal vascular occlusion showed similar prevalences of inherited and acquired thrombophilias. These findings do not support routine thrombophilia screening in individuals with RAO or RVO.

Role of Increased Lipoprotein (a) in Retinal Vein Occlusion: A Systematic Review and Meta-analysis

“…This twofold pathogenic activity of Lp(a) may be especially relevant in a condition like RVO which is on the border between venous and arterial thrombosis. [1][2][3][4][5] Based on our results, lowering Lp(a) represents an attractive approach to the prevention of RVO or its recurrence. Currently, the only recommended strategy to reduce Lp(a) remains plasma apheresis (expected reduction 60-80%) as there are no drugs able to selectively reduce Lp(a) levels, although some reduction has been reported with aspirin (15-20%), lomitapide and mipomersen (30%), PCSK9-inhibitors (30%), and nicotinic acid (38%).…”

“…This twofold pathogenic activity of Lp(a) may be especially relevant in a condition like RVO which is on the border between venous and arterial thrombosis. 1 2 3 4 5 …”

“… 2 Unlike other vein thromboses, thrombophilia does not seem to play a major role in RVO, a conclusion supported by a recent meta-analysis which questioned the role of thrombophilia in retinal arterial and venous occlusive disease. 3 On the other hand, several common cardiovascular risk factors, such as hypertension, diabetes, and hyperlipemia, were reported to be predisposing factors for RVO 4 and to enhance the risk of RVO recurrence. 2 4 These findings suggest that although RVO is a venous thrombosis it has more characteristics in common with atherosclerosis than with venous thromboembolism (VTE).…”

“… 2 4 These findings suggest that although RVO is a venous thrombosis it has more characteristics in common with atherosclerosis than with venous thromboembolism (VTE). 3 4 5 Accordingly, despite some evidence of efficacy, 6 anticoagulation is seldom administered to these patients and it is mostly reserved to younger subjects with acute occlusion, while cardiovascular risk factors control is the most widely used and strongly recommended measure to prevent RVO recurrence. 2 Because of these uncertainties, medical management of this frequent and disabling condition is still far from optimal and a step forward in the knowledge of RVO pathogenesis is strongly required to identify appropriate therapeutic targets.…”

The Relationship Between ABO Blood Groups and Retinal Venous Occlusion

“…As a result of studies on factors that predispose to RVO, advanced age, diabetes mellitus (DM), hypertension (HT), thrombophilia (Protein C and S de ciencies, antithrombin factor V Leiden mutation, hyperhomocysteinemia and anticardiolipin antibodies) were identi ed. Glaucoma is the most common eye disease predisposing to RVO [6][7][8][9][10][11]. ABO blood group system was rst described by Karl Landsteiner in 1901 [12].…”