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Published on: April 21, 2022
Thrombophilia and retinal vascular occlusion
Charles J Glueck1, Robert K Hutchins, Joel Jurantee
1Cholesterol Center, Jewish Hospital of Cincinnati, Cincinnati, OH, USA.
Insights
Thrombophilia, particularly high homocysteine, is linked to retinal vascular occlusions (CRVO, CRAO, AF). Treatment with vitamins normalized homocysteine in most patients, suggesting a treatable cause for these conditions.
Area of Science:
- Ophthalmology
- Hematology
- Vascular Medicine
Background:
- Retinal vascular occlusions, including central retinal vein occlusion (CRVO), central retinal artery occlusion (CRAO), and amaurosis fugax (AF), can lead to vision loss.
- Thrombophilia, a condition characterized by an increased tendency to form blood clots, is a potential risk factor for these occlusive events.
Purpose of the Study:
- To investigate the association between thrombophilia and CRVO, CRAO, and AF.
- To assess the effectiveness of normalizing elevated homocysteine levels.
- To examine the role of estrogen therapy in women who develop these conditions and have underlying thrombophilia.
Main Methods:
- A case-control study involving 132 CRVO, 15 CRAO, and 17 AF cases compared to 105 healthy controls.
- Thrombophilia-hypofibrinolysis measures were assessed in all participants.
- Cardiovascular disease risk factors were compared between cases and controls.
Main Results:
- CRVO cases showed higher rates of elevated homocysteine, anticardiolipin IgM, and Factor VIII compared to controls.
- CRAO-AF cases had increased prevalence of high homocysteine and lupus anticoagulant.
- Four CRVO cases and one CRAO case occurred after estrogen therapy initiation in women with thrombophilia.
- Vitamin therapy (folic acid, B6, B12) normalized homocysteine in 81% of CRVO cases and 100% of CRAO-AF cases.
Conclusions:
- Treatable thrombophilias, especially hyperhomocysteinemia, are more prevalent in patients with retinal vascular occlusions than in the general population.
- Retinal vascular occlusions can occur in women using estrogens or estrogen agonists who have underlying thrombophilia.
Purpose:
The purpose of this research was to assess associations of thrombophilia with central retinal vein occlusion (CRVO), central retinal artery occlusion (CRAO), and amaurosis fugax (AF); to evaluate outcomes of normalizing high homocysteine; and to study CRVO, CRAO, and AF developing in estrogens/estrogen agonists in women subsequently shown to have thrombophilia.
Methods:
Measures of thrombophilia-hypofibrinolysis were obtained in 132 CRVO cases, 15 CRAO cases, and 17 AF cases. Cases were compared to 105 healthy control subjects who did not differ by race or sex and were free of any ophthalmologic disorders. All cardiovascular disease (CVD) risk factors were compared to healthy general populations.
Main Outcome Measures:
The main outcome measure of this study was thrombophilia.
Results:
CRVO cases were more likely than controls to have high homocysteine (odds ratio [OR] 8.64, 95% confidence intervals [CI]: 1.96-38), high anticardiolipin immunoglobulin M (IgM; OR 6.26, 95% CI: 1.4-28.2), and high Factor VIII (OR 2.47, 95% CI: 1.31-7.9). CRAO-AF cases were more likely than controls to have high homocysteine (OR 14, 95% CI: 2.7-71.6) or the lupus anticoagulant (OR 4.1, 95% CI: 1.3-13.2). In four of 77 women with CRVO (two found to have high homocysteine, two with inherited high Factor XI), CRVO occurred after starting estrogen-progestins, estrogen-testosterone, or estrogen agonists. In one of eight women with CRAO found to have high anticardiolipin antibody IgG, CRAO occurred after starting conjugated estrogens, and AF occurred after starting conjugated estrogens in one of eleven women with AF (inherited protein S deficiency). Therapy for medians of 21 months (CRVO) and 6 months (CRAO-AF) was 5 mg folic acid, 100 mg B6, and 2000 mcg/day B12 normalized homocysteine in 13 of 16 (81%) CRVO cases and all five CRAO-AF cases with pretreatment hyperhomocysteinemia. The CRVO cases had an excess of hypertension; CRAO-AF cases had an excess of type 2 diabetes and hypertension.
Conclusion:
Treatable thrombophilia, hyperhomocysteinemia in particular, is more common in RVO cases than in normal controls. RVO occurs after estrogens or estrogen agonists were administered in women subsequently shown to have thrombophilia.
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