scholarly journals Retinal vein occlusion: A form of venous thrombosis or a complication of atherosclerosis?

2005 ◽  
Vol 93 (06) ◽  
pp. 1021-1026 ◽  
Author(s):  
Martin den Heijer ◽  
Johannes Cruysberg ◽  
Hub Wollersheim ◽  
Sebastian Bredie ◽  
Mirian Janssen
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Gene Mutation ◽  
Factor V Leiden ◽  
Anticardiolipin Antibodies ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Occlusion ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

SummaryPrevious studies have shown an increased risk of retinal vein occlusion (RVO) in patients with hypertension, hypercholesterolemia and diabetes mellitus. Literature on the association between thrombophilic factors and RVO consists of small studies and case reports. The objective was to determine the relationship between thrombophilic risk factors and RVO. Thrombophilic risk factors analyzed were hyperhomocysteinemia, MTHFR gene mutation, factor V Leiden mutation, protein C and S deficiency, antithrombin deficiency, prothrombin gene mutation, anticardiolipin antibodies and lupus anticoagulant. For all currently known thrombophilic risk factors odds ratios for RVO were calculated as estimates of relative risk. The odds ratios were 8.9 (95% CI 5.7 –13.7) for hyperhomocysteinemia, 3.9 (95% CI 2.3 – 6.7) for anticardiolipin antibodies, 1.2 (95% CI 0.9 –1.6) for MTHFR, 1.5 (95% CI 1.0 – 2.2) for factor V Leiden mutation and 1.6 (95% CI 0.8 – 3.2) for prothrombin gene mutation. In conclusion, regarding thrombophilic risk factors and RVO there is only evidence for an association with hyperhomocysteinemia and anticardiolipin antibodies, factors that are known as risk factors for venous thrombosis as well as for arterial vascular disease. The minor effect of factor V Leiden mutation and the protrombin gene mutation (risk factors for venous thrombosis only) suggests that atherosclerosis might be an important factor in the development of CRVO.

scholarly journals Predisposition to Thrombophilia and Hypofibrinolysis in Pulmonary Embolism: Analysis of Inherited Factors

2013 ◽  
Vol 6 (2) ◽  
pp. 73-81
Author(s):  
Regina Komsa-Penkova ◽  
Pencho T. Tonchev ◽  
Katya S. Kovacheva ◽  
Galya B. Georgieva ◽  
Yavor Y. Ivanov ◽  
...  
Keyword(s):  
Risk Factors ◽  
Pulmonary Embolism ◽  
Gene Mutation ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Platelet Glycoprotein ◽  
Factor V ◽  
Prevention Policy ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

Summary Pulmonary embolism (PE) is a relatively common cardiovascular emergency, though its exact incidence is difficult to assess. Accurate diagnosis is critical because of the high 30-day mortality in patients in whom the diagnosis is missed on admission. Doubt for PE is often raised by the presence of risk factors for venous thromboembolism (VTE), which are categorized into inherited and acquired. Among these, the importance of inherited/genetic thrombophilic factors is increasingly recognized. The most frequent markers of inherited thrombophilia are Factor V Leiden (FVL) and G2021OA prothrombin gene mutation. Among the inherited factors causal to thrombophilia, the C677T variant in methylentetrahydrofolate reductase (MTHFR) gene as well as factors like P1A1/P1A2 polymorphism in platelet glycoprotein Ilb/IIIa (P1A2) and hypofibrinolytic polymorphism 4G/4G in PAI-1 gene are discussed with controversial results. In our study, thrombophilic and hypofibrinolytic genetic variants were identified in 54.2% of 115 patients with PE. The most common significant genetic defects were FVL- 16.5% in patients versus 6.2% in controls (OR=3.102; p=0.05), G20210A PT 5.7% versus 2.1% (OR=2.983; p>0.05). P1A2 was found in 27.3% patients versus 19.9% in controls (OR= 1.523, p>0.05) and PAM 27.8% versus 22.6% (OR =1.501 p>0.05). MTHFR C677T carriage was inverse: 6.7% in patients versus 13.4% in controls. (OR=0.461 p=0.05). Of all the patients studied, 15.65% had a history of recurrent embolic incidents. The risk of recurrence was higher for the carriers of FVL and G20210A prothrombin gene mutation. The association between carriage of thrombophilic genetic factor and the early onset of the first embolic episode was found in the patients with PE. The awareness of risk factors and risk stratification is a critical issue in treatment and prevention policy. Preventive measures should be taken in particular medical conditions.

Prothrombin-gene mutation and factor V leiden in inflammatory bowel disease complicated by venous thrombosis

2000 ◽  
Vol 118 (4) ◽  
pp. A354-A355
Author(s):  
Terence Wong ◽  
Jo Nightingale ◽  
Azhar Ansari ◽  
Jeremey Sanderson ◽  
Mark Winter ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Venous Thrombosis ◽  
Gene Mutation ◽  
Bowel Disease ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Inflammatory Bowel ◽  
Prothrombin Gene

High Prevalence of Hyperhomocysteine in Retinal Vein Occlusion.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 1617-1617
Author(s):  
Berardino Pollio ◽  
Grazia Delios ◽  
Marco Ladetto ◽  
Marco Tucciarone ◽  
Francesco Di Bassiano ◽  
...  
Keyword(s):  
Risk Factors ◽  
Retinal Vein Occlusion ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor V ◽  
Thrombotic Risk ◽  
Vein Occlusion ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

Abstract Retinal vein occlusion (RVO) is a common cause of blindness. Despite its clinical relevance, the role of inherited thrombophilia in RVO is controversial (Janssen MC et al., Thrombosis and Haemostasis2005; 93). Although many authors consider more important the role of anatomical conditions of lamina cribrosa rather than hypercoagulability in pathogenesis of this disease, the use of antithrombotic drugs for treatment of RVO is widespread (Prisco D et al., Pathophysiology of Haemostasis and Thrombosis2002;32). To evaluate the most important thrombotic risk factors, we collected the data of 80 consecutive patients referred to our Centers for a RVO confirmed by fluoroangiography. Our cohort includes 39 women and 41 men with median age of 66 years; we observed 42 central retinal vein occlusions (CRVO) and 38 branch retinal vein occlusions (BRVO) from March 2002 to July 2005. We collected the following data about cardiovascular risk factors: the prevalence of arterial hypertension was 47,5% (38/80), dyslipidemia 22.5% (18/80), obesity 7.5% (6/80), diabetes mellitus 10% (8/80). Forty-four patients (55%) demonstrated one or more atherosclerotic risk factors. The prevalence of acquired conditions did not show any statistical difference between CRVO and BRVO patients. Moreover we tested fasting homocysteine in 60 patients detecting hyperhomocysteine (defined as a value of homocysteine above 95° percentile of laboratory control group) in 19 cases (31%). Only one patient showed Lupus Anticoagulant and anticardiolipin antibody positivity. Moreover we registered a CRVO during tamoxifen treatment and another one during hormonal therapy. When we considered venous thrombophilia (hormonal therapy, neoplasia, immobilization, surgery, hyperhomocysteine, LAC) we found 25 patients (31.3%) having one or more acquired thrombotic risk factors. Besides, all patients were tested for: antithrombin III, protein C and protein S, activated protein C resistance, factor V Leiden and prothrombin G20210A. We found the presence of genetic trombophilia in 14 patients (17,5%): nine patients had protein S deficit; five had prothrombin gene mutation and one patient had factor V Leiden and one had factor XII deficit (two patients had multiple defects). Results of our survey confirme that acquired risk factors have a more relevant role that genetic thrombophilia in OVR. To draw a conclusion, extensive screening of genetic thrombophilia is not cost-effective in RVO but detection of plasmatic homocysteine concentration can be useful because high frequency of hyperhomocysteine and the possibility of treatment with vitamin B12 and folic acid. Finally we are surprised to see high frequency of protein S deficit in our cohort. Clinical features of 80 retinal vein thrombosis Number of patients: 80 Male/female: 41/39 Median age: 66 Date of recruitment March 2002 -July 2005 Branch retinal vein occlusion 38/80 Central retinal vein occlusion 42/80 Thrombotic risk factors in RVO Hyperhomocysteine 19/60 (31.6%) Genetic thrombophilia 14/80 (17.5%) Protein S deficit 9/80 (11.25%) Prothrombin gene mutation 5/80 (6.3%) Acquired venous risk factors 25/80 (31.3%) Atherosclerotic risk factors 44/80 (55%)

scholarly journals Etiological factors in young patients with Retinal Vein Occlusion

2019 ◽  
Vol 35 (5) ◽  
Author(s):  
Serhad Nalcaci ◽  
Cumali Degirmenci ◽  
Cezmi Akkin ◽  
Jale Mentes
Keyword(s):  
Gene Mutation ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Etiological Factors ◽  
Reductase Gene ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Objective: To present the etiological factors of patients with Retinal Vein Occlusion (RVO) under the age of 50 years. Methods: The study was conducted at Ege University Medicine Faculty Department of Ophthalmology. The clinical records of patients with RVO under the age of 50 seen between January 2014 and March 2018 were analyzed retrospectively. Forty patients comprised the study. Detailed ophthalmologic examination was performed. Past medical history, drug use, thrombophilic features, hyperviscosity syndromes and pathologies that may cause vasculitis were noted. Results: Forty patients, 22 (55%) male and 18 (45%) female, were included. Mean age was 41.6 ± 10.01 years. Mean intraocular pressure and best-corrected visual acuity were 16.8 ± 5.47mmHg and 0.76 ± 0.64 logMAR, respectively. Hyperhomocystenemia (15 patients, 37.5%), Behçet’s disease (three patients, 7.5%), diabetes and/or hypertension (16 patients, 40%), methylenetetrahydrofolate reductase gene mutation (11 patients, 27.5%), prothrombin gene mutation (four patients, 10%) and factor V Leiden mutation (five patients, 12.5%) were present among the patients as etiological factor. Multiple etiological factors were detected in 11 (27.5%) patients. Factor V Leiden mutation and methylenetetrahydrofolate reductase gene mutation were detected in one patient (2.5%) with Behçet’s disease. Four patients with diabetes and/or hypertension also had hyperhomocystenemia and one of them had additionally prothrombin gene mutation. Two patients with methylenetetrahydrofolate reductase gene mutation also had a factor V Leiden mutation and one of them had additionally a prothrombin gene mutation. Three patients with methylenetetrahydrofolate reductase gene mutation also had hyperhomocystenemia and one patient with prothrombin gene mutation also had methylenetetrahydrofolate reductase gene mutation. Conclusions: Etiological factors that might result in RVO in young individuals should be investigated in detail. Targeted therapies may help to prevent development of new RVOs and potential vascular problems in other organs. doi: https://doi.org/10.12669/pjms.35.5.546 How to cite this:Nalcaci S, Degirmenci C, Akkin C, Mentes J. Etiological factors in young patients with Retinal Vein Occlusion. Pak J Med Sci. 2019;35(5):---------. doi: https://doi.org/10.12669/pjms.35.5.546 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Markers of activated coagulation in patients with factor V Leiden and/or G20210A prothrombin gene mutation

2002 ◽  
Vol 107 (1-2) ◽  
pp. 7-11 ◽  
Author(s):  
I Gouin-Thibault ◽  
R Arkam ◽  
S Nassiri ◽  
A de la Tourette ◽  
J Conard ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

THROMBOPHILIC RISK FACTORS IN PATIENTS WITH CRANIAL AND SPINAL DURAL ARTERIOVENOUS FISTULAE

Neurosurgery ◽  
2008 ◽  
Vol 63 (4) ◽  
pp. 693-699 ◽  
Author(s):  
Rüediger Gerlach ◽  
Martina Boehm-Weigert ◽  
Joachim Berkefeld ◽  
Judith Duis ◽  
Andreas Raabe ◽  
...  
Keyword(s):  
Risk Factors ◽  
Protein C ◽  
Factor V Leiden ◽  
Factor V ◽  
Arteriovenous Fistulae ◽  
Factor V Leiden Mutation ◽  
Exact Test ◽  
G20210a Mutation ◽  
Cardiolipin Antibodies ◽  
Prothrombin Gene

ABSTRACT OBJECTIVE Numerous studies have reported the technical aspects and results of surgical and/or endovascular treatment of cranial dural arteriovenous fistulae (cDAVF) and spinal dural arteriovenous fistulae (sDAVF). Only a few of them have addressed the question of thrombophilic conditions, which may be relevant as pathogenetic factors or can increase the risk for venous thromboembolic events. Therefore, the objective of this study is to compare thrombophilic risk factors in patients with cDAVF and sDAVF with no history of trauma. METHODS A total of 43 patients (25 with cDAVF and 18 with sDAVF) were included in this study. Blood samples were analyzed for G20210A mutation of the prothrombin gene and factor V Leiden mutation. In all patients, prothrombin time, international normalized ratio, fibrinogen, antithrombin, protein C and S activity, von Willebrand factor antigen, ristocetin cofactor activity, D-dimer, coagulation factor VIII activity, and tissue factor pathway inhibitor were determined. Screening was performed for the occurrence of lupus antiphospholipid and cardiolipin antibodies. RESULTS The prevalence of G20210A mutation of the prothrombin gene was significantly higher in patients with cDAVF (n = 6) compared with patients with sDAVF (n = 0; P < 0.05, Fisher's exact test). A factor V Leiden mutation was found in 3 patients with sDAVF and in 1 patient with cDAVF (P = 0.29, Fisher's exact test). No significant difference was found for other parameters, except for fibrinogen, but decreased protein C activity was more frequent in patients with cDAVF compared with patients with sDAVF (4 versus 1). Decreased protein S activity was encountered in 3 patients (2 with sDAVF and 1 with cDAVF). Cardiolipin antibodies were found in 2 patients with cDAVF but in none with sDAVF, whereas only 1 patient with sDAVF had lupus antiphospholipid antibodies. CONCLUSION In both groups of patients with dural arteriovenous fistulae, genetic thrombophilic abnormalities occurred in a higher percentage than in the general population. The differences of the genetic abnormalities may be involved in different pathophysiological mechanism(s) in the development of these distinct neurovascular entities.

Sign in / Sign up

Export Citation Format

Share Document