Increased prevalence of factor V Leiden in patients with retinal vein occlusion and under 60 years of age

Abstract

Retinal vein occlusion (RVO) is a multifactorial disease involving vessel damage, stasis, viscosity and thrombosis. Conflicting findings on hereditary thrombophilic risk factors have been reported and their impact on RVO features remains to be defined. The aim of the present study was to evaluate the prevalence of hereditary thrombophilic risk factors (HTRF) and characteristics of RVO in patients with or without HTRF. The design of the study was a prospective, observational case series. Two hundred and thirty-four patients with RVO were included consecutively. A French healthy population of the same region was studied as control group. The HTRF studied were protein C (PC), protein S (PS) and antithrombin (AT) deficiencies, factor V Leiden (FVL) and factor II 20210A polymorphisms. Chi-Square was used for comparison with the healthy subjects and between RVO patient with and without HTRF according to localisation (branch vs. central), type of RVO (ischemic or non-ischemic), recurrence, age at first event and classical vascular risk factors. Twenty-two patients had HTRF (12 FV Leiden heterozygotes, 9 FII 20210A heterozygotes and 1 PS deficiency). No AT or PC deficiency was detected. Frequencies of PS deficiency, FVL and FII 20210A allele were similar to the reference population as well as to published data in the general caucasian population. Eighty-six patients experienced their first episode before the age of 60 years. Systemic hypertension, glaucoma and angina were significantly less frequent in patients with RVO before 60 years. Fourteen of the 22 patients with one HTRF (64%) experienced their first episode of RVO before the age of 60 years compared to 72 of 212 without HTRF (34%) (p = 0.006). Heterozygote status for FV Leiden was significantly more frequent in patients who had experienced their first episode of RVO before 60 years (p = 0.027). In conclusion, this study suggests a role of FV Leiden in the occurrence of RVO in patients younger than 60 years who exhibit fewer acquired vascular risk factors than in older patients.

Cardiovascular risk factors and outcome in patients with retinal vein occlusion

“…Arterial hypertension, diabetes mellitus, cigarette smoking and rheological abnormalities have been reported as systemic predisposing conditions by several studies [1][2][3][4][5]. Hemostatic abnormalities leading to hypercoagulable states have been extensively studied over the last 15 years [6,7], however the role of inherited thrombophilia associated with risk of venous thrombosis [8,9], has been disputed in RVO patients [10][11][12][13][14][15][16]. Although recent data highlight an association with activated protein C resistance/Factor V (FV) Leiden [14,15], a metanalysis ruled out the role for inherited thrombophilia in RVO, whereas the contribution of anticardiolipin antibodies and hyperhomocysteinemia has been suggested [16].…”

“…Hemostatic abnormalities leading to hypercoagulable states have been extensively studied over the last 15 years [6,7], however the role of inherited thrombophilia associated with risk of venous thrombosis [8,9], has been disputed in RVO patients [10][11][12][13][14][15][16]. Although recent data highlight an association with activated protein C resistance/Factor V (FV) Leiden [14,15], a metanalysis ruled out the role for inherited thrombophilia in RVO, whereas the contribution of anticardiolipin antibodies and hyperhomocysteinemia has been suggested [16]. Homocysteine-related variables [17] have been also evaluated with conflicting results [11,13,18,19].…”

Thrombophilic mutations and risk of retinal vein occlusion

“…The frequency of thrombophilic mutations in patients presenting RVO in previous studies range from 0% to 17% for the factor V Leiden (16)(17)(18)(19)(20) , from 0% to 10% for PT 20210A (16,19,(21)(22)(23)(24) and from 3% to 19% for MTHFR 677TT (25)(26)(27)(28)(29)(30) . These differences may be related to the racial background, selection of the control group, and study design.…”

Hyper-Homocysteinemia and other Inherited Thrombophilic Factors Inducing Retinal Vein Occlusion. The Employment of Novel Orals Anti-Coagulants is Possible?

“…Heterozygous mutation of FLV increases the risk of venous thrombus 3-to 7 fold, while homozygous mutation increases the risk to approximately 80 fold. Some authors reported the prevalence of FVL mutation both in CRVO [25] and BRVO [26]. Recurrent BRVO induced by Factor V Leiden mutation was also described by Banik and coll [26].…”