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

Abstract

AimThis 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.MethodsPatients 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.ResultsOf 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.ConclusionOf 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.

Clinical Features of Visual Disturbances in Leiden Thrombophilia

“…2019;16(4):487-493. https://doi.org/10.18008/1816-5095-2019-4-487-493 Прозрачность финансовой деятельности: Никто из авторов не имеет финансовой заинтересованности в представленных материалах или методах Конфликт интересов отсутствует АКТУАЛЬНОСТЬ Общепризнанно, что развитие ретинальных сосудистых окклюзий имеет многофакторный характер. Наиболее значимыми в патогенезе ретинальных окклюзий являются сердечно-сосудистые факторы риска, такие как гипертоническая болезнь, гиперлипидемия, сахарный диабет, атеросклероз и курение [1,2]. Однако в ряде случаев возникновение ретинальных окклюзий нельзя объяснить наличием кардиоваскулярных факторов риска, в особенности у пациентов молодого возраста, в связи с этим внимание исследователей в последние годы было направлено на изучение патофизиологической роли аномалий системы свертывания крови в развитии глазных тромботических событий [3,4].…”

Update on the evaluation of transient vision loss

“…Acquired prothrombotic risk factors include immobilization, smoking, and hyperestrogenemia due to pregnancy or exogenous estrogen use. 36 , 37 Although anticoagulation for inherited hypercoagulability may prevent vascular occlusions, 36 – 38 a number of recent reviews from the stroke literature have found no correlation between most hypercoagulable states and acute ischemic stroke, and state that there is no indication either for screening or for anticoagulation even if testing is positive. 39 …”

Bilateral upper extremity severe ecchymosis in a patient on alirocumab, rivaroxaban, and clopidogrel therapy

“…The patient, a 70-year-old non-smoking Caucasian male, was referred to our center because of non-cardiogenic recurrent amaurosis fugax, and transient ischemic attacks (TIAs) and ischemic strokes in the presence of normal carotid and coronary artery imaging, and in the absence of atrial fibrillation. He was found to be heterozygous for the G20210A prothrombin gene mutation, which is known to be associated with retinal artery thrombotic occlusion, amaurosis fugax, [5,6] and ischemic stroke, [7,8] as well as, more commonly, venous thrombosis. [9][10][11][12][13] Due to increased frequency of amaurosis fugax episodes and ischemic stroke-TIAs, [14] he was initially anticoagulated with enoxaparin (1 mg/kg/twice per day), with a sharp reduction in the frequency of amaurosis fugax attacks, and non-recurrence of TIAs and ischemic strokes.…”