Prevalence of Thrombophilia in Patients with Retinal Vascular Occlusion

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5341-5341
Author(s):  
Maria Teresa De Sancho ◽  
Karen Powell-Boone ◽  
Karen Carlson
Keyword(s):  
Risk Factors ◽  
Factor Viii ◽  
Factor V Leiden ◽  
Vascular Occlusion ◽  
Factor V ◽  
Factor Viii Level ◽  
Female Hormones ◽  
Retinal Vascular Occlusion ◽  
Viii Level ◽  
Prothrombin Gene Mutation

Abstract Background: Retinal vascular occlusion (RVO), both arterial (RAO) and venous (RVO) is an important cause of visual loss. Inherited and acquired thrombophilia are considered important risk factors in the development of RVO. Additionally, cardiovascular risk factors such as hypertension, diabetes, hyperlipidemia, smoking and use of female hormones may play a role. Objective: To determine the prevalence of thrombophilia in patients with RVO. Methods: We reviewed the medical records of all patients with documented RVO who were referred to our hematology clinic at a tertiary care center between January 2001 and June 2008 for thrombophilia evaluation. Thrombophilia evaluation included testing for factor V Leiden, prothrombin gene mutation G20210A, deficiencies in antithrombin, protein C and S, presence of antiphospholipid antibodies (aPLas), hyperhomocysteinemia and increased levels of lipoprotein (a), factor VIII, IX and XI. Serum protein electrophoresis and immunofixation were also performed. Environmental risk factors analyzed included use of female hormones, pregnancy and puerperium, smoking, hypertension, hyperlipidemia and diabetes. Results: A total of 24 patients were identified; 10 were males and 14 females. The mean age was 62 years (range, 31 to 86 years). Seven patients had RAO and 17 RVO. Of the 24 patients, 19 (79%) had thrombophilia. Of these, 10 had only one thrombophilia and 9 had ≥2 thrombophilia. Of the 10 patients with a single thrombophilia, 3 patients had aPLas, 3 had increased lipoprotein (a) 2 had factor V Leiden, 1 hyperhomocysteinemia, and 1 had increased factor VIII level. Of the nine patients with combined thrombophilia: 3 had hyperhomocysteinemia and increase factor VIII level, 2 prothrombin gene mutation and positive lupus anticoagulant, 1 positive aPLas, hyperhomocysteinemia and a monoclonal gammopathy, 1 aPLas and increased factor VIII, 1, hyperhomocysteinemia and protein S deficiency and 1 hyperhomocysteinemia and polycythemia vera. In 5 patients, no thrombophilia was identified. Of the 24 patients, 11 had hypertension, 9 had hyperlipidemia, 3 were smokers, 3 were using female hormones and 1 was pregnant. Treatment included aspirin 81 mg (n= 9), aspirin >81 mg (n= 5), warfarin (n= 3), folic acid (n=2), aspirin and clopidogrel (n=1), clopidogrel (n=1), no treatment (n=4), and unknown (n=1). Conclusions: Over three quarters (79%) of patients with RVO had an underlying thrombophilia with aPLas, hyperhomocysteinemia and increased factor VIII level being the most prevalent. Our findings suggest that testing for thrombophilia particularly for aPLas, homocysteine and factor VIII levels may be useful in patients with RVO

ID: 39: RETINAL VASCULAR OCCLUSION: A WINDOW TO DIAGNOSIS OF FAMILIAL AND ACQUIRED THROMBOPHILIA AND HYPOFIBRINOLYSIS, WITH IMPORTANT RAMIFICATIONS FOR OCULAR AND NON-OCULAR THROMBOSIS.

2016 ◽  
Vol 64 (4) ◽  
pp. 945.1-945
Author(s):  
SG Dixon ◽  
CT Bruce ◽  
CJ Glueck ◽  
P Wang ◽  
RK Hutchins ◽  
...  
Keyword(s):  
Factor Viii ◽  
Pregnancy Complications ◽  
Elevated Serum ◽  
Factor V Leiden ◽  
Vascular Occlusion ◽  
Normal Female ◽  
Factor V ◽  
Retinal Vascular Occlusion ◽  
Normal Controls ◽  
Acquired Thrombophilia

PurposeInvestigation for familial and acquired thrombophilia and hypofibrinolysis in 77 women with retinal vascular occlusion (either central retinal artery [CRAO] or central retinal vein occlusion [CRVO]), reinforced the importance of obtaining measures of thrombophilia and hypofibrinolysis in the evaluation of underlying causes of CRAO and CRVO, which pose risk for other thrombotic events, particularly obstetric complications.Abstract ID: 39 Table 1Coagulation disorders in 16 women with retinal vascular occlusion, compared with 62 normal healthy women. Factor V LeidenPTGMTHFRPAIGHomocys- teine1Factor VIIIFactor XIProtein CProtein SFree SAntithrombin IIIAbnormal rangeTC,TTTC,TTTT4G4Gumol/l>150%>150%<73%<63%<66%<8062 Normal controlsAge 44±12, med=432/61(3%)2/62(3%)21/61(34%)13/56(23%)0/62(0%)6/57(11%)2/55(4%)2/53(4%)4/53(8%)2/53(4%)1/52(2%)16 RVO casesAge 61±13, med=633/16(19%)2/15(13%)6/16(38%)5/15(33%)5/16(31%)§6/15(40%)†3/13(23%)*0/15(0%)1/15(7%)2/14(14%)0/15(0%)1 dated cut point for Homocysteine high: ≥15 (11/15/08–12/2/14); ≥10.4 (after 2/3/14). * p<.05, †p<.025, §p<.001, comparing with 62 normal female controls by Fisher's test.MethodsIn 77 women with CRAO or CRVO referred by retinologists for hematologic evaluation, we performed a detailed evaluation of familial and acquired thrombophilia, with focus on thrombotic events, particularly pregnancy complications, including unexplained miscarriage, pre-eclampsia, eclampsia, and HELLP syndrome. We evaluated thrombophilia measurements in 16 (of the total 77) women with CRAO or CRVO who had 2 or more unexplained pregnancy losses compared to 62 healthy normal women without retinal vascular occlusion.ResultsOf the 77 women, 24 (39%) had at least 1 miscarriage, and 16 (26%) had 2 or more miscarriages, pre-eclampsia, or eclampsia. Of these 16 women, 8 had 2 miscarriages, 3 had 4 miscarriages, one woman had 6 miscarriages, and one woman had 8 miscarriages. Of the 16 women with retinal vascular occlusion and pregnancy complications, they were significantly more likely to have elevated Factor VIII (40% vs 11%, p=0.014), elevated Factor XI (23% vs 4%, p=0.045), elevated serum homocysteine (31% vs 0%, p=0.0002), compared with 62 healthy normal female controls without history of retinal vascular occlusion. These 16 women were marginally (p=0.058) more likely than the 62 normal controls to have Factor V Leiden heterozygosity (19% vs 3%).ConclusionWomen of childbearing age who presented with retinal vascular occlusion (CRAO or CRVO) had elevated serum factors associated with thrombophilia, which may pose increased risk for deep vein thrombosis, pulmonary embolism, and obstetric complications. Retinologists are important gatekeepers in the diagnosis of heritable ocular thrombosis through the evaluation of early age of onset for retinal vascular occlusion.

Risk Factors for Clinical Manifestations in Patients with Factor V Leiden and Prothrombin Gene Mutations.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4090-4090
Author(s):  
Maria Teresa De Sancho ◽  
Nickisha Berlus ◽  
Jacob H. Rand
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Factor V ◽  
Female Hormones ◽  
Significant Difference ◽  
History Of

Abstract Factor V Leiden (FVL) and prothrombin G20210A gene mutations are the most prevalent hereditary thrombophilias (HT). Carriers of these HT are at greater risk for developing thromboembolic events (TEE) and/or pregnancy complications (PC) compared to non-carriers, but not all carriers develop clinical manifestations. We retrospectively analyzed the risk factors (RF) for clinical manifestations of all subjects who tested positive for FVL and/or PG20210A gene mutations in our hematology clinic between January 2000 and July 2006. Symptomatic carriers (cases) and asymptomatic carriers (controls) were compared. Cases were defined as having had a TEE (venous and/or arterial) or a PC (pregnancy loss (PL), preeclampsia, abruption placenta and intrauterine growth restriction). Data analyzed included secondary RF for thrombosis, use of female hormones (FH), family history of thrombosis (FHT), and the presence of other thrombophilias. During the study period, 197 subjects were fully evaluable; 9 were excluded due to insufficient data. The clinical characteristics are shown in Table 1. Of the 85 venous thromboses (VT), 59 (69%) had DVT and/or PE, 10 (12%) had superficial thrombophlebitis, 9 (11%) intra-abdominal thrombosis, 2 (2%) cerebral VT, 2 (2%) had retinal VT and 3 (4%) had &gt; 1 site of VT. Of the 25 arterial thromboses (AT), 11 (44%) were CVA, 7 (28%) had TIA, 6 (24%) had other AT, and 1 (4%) had an MI. Of the 52 cases with PL, 27 (52%) were early recurrent 1st trimester PL, 8 (15%) were 2nd or 3rd trimester PL, 4 (8%) had infertility and 13 (25%) had both PL and infertility. Of the 5 PC, 3 were abruption placenta, 1 preeclampsia and 1 had &gt; 1 PC. The most common RF was the presence of &gt; 1 secondary RF (Table 2). There was no significant difference between cases and controls regarding the use of FH, FHT, and presence of other thrombophilias. Fertility medications were used by 12 (10%) of cases vs. 1 (2%) of controls. Antiphospholipid (aPL) antibody-positivity was the most prevalent concurrent thrombophilic factor and occurred in 18 of cases (12%) vs. 2 (4%) of controls. Cases and controls were similar regarding gender, age, family history of thrombosis, and presence of other thrombophilias. In summary, fertility medications and aPL antibodies appear to be significant risk factors for clinical manifestations in cases. Larger multicenter studies are warranted to identify additional RF in carriers of these HT. Clinical Characteristics Cases (n=145) Controls (n=52) *85 heterozygous, 6 homozygous, **29 heterozygous, 2 homozygous, ***37 heterozygous, 2 homozygous, ****100% heterozygous Mean Age, yr [+/−SD] 44+/−13 42+/−13 Gender, female 115 (79%) 42 (81%) FVL 91 (63%)* 31 (60%)** PG20210A 39 (27%)*** 18 (35%)**** FVL + PG20210A 15 (10%) 3 (6%) VT 85 (59%) --- AT 25 (17%) --- PC and infertility (female carriers, n=115) 57 (50%) --- Risk Factors Cases (n=145) Controls (n=52) p value Includes obesity, postoperative period, pregnancy, puerperium, long airplane flight, smoking, hypertension, hypercholesterolemia, and immobilization; **oral contraceptives, hormone replacement therapy, selective estrogen receptor modulators, progesterone OC, fertility medications Secondary RF* 74 (51%) 15 (29%) 0.265 NS Use of female hormones**, n=115 59 (51%) 21 (50%) 0.478 NS Family history of thrombosis 73 (50%) 34 (65%) 0.252 NS Other thrombophilias 60 (41%) 21 (40%) 0.232 NS

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.

A Study of Coagulation Factor Levels in Women during Labour and in Their Newborn Infants

1966 ◽  
Vol 16 (01/02) ◽  
pp. 185-197 ◽  
Author(s):  
H. L Nossel ◽  
P Lanzkowsky ◽  
S Levy ◽  
R. S Mibashan ◽  
J. D. L Hansen
Keyword(s):  
Factor Viii ◽  
Newborn Infants ◽  
Coagulation Factor ◽  
Coagulation Factors ◽  
Factor V ◽  
Vitamin K1 ◽  
Factor Xi ◽  
Factor Viii Level ◽  
Viii Level ◽  
Low Levels

Summary1. Coagulation factors levels were measured in 10 normal mothers and in their infants within 15 min of birth and at 48-96 hrs of age.2. In the mothers the levels of fibrinogen (532 mg/%), factors VIII (196%), IX (130%) and X (122%) were elevated; the levels of prothrombin (107%) and factor V (108%) were normal ; and the level of factor XI (69%) was reduced.3. The infants blood examined within 15 min of birth had a slightly elevated factor VIII level (138%), slightly reduced fibrinogen (195 mg/%) and factor V levels (79%), low levels of prothrombin (55%) and factors IX (27%), X (35%) and XI (32%).4. Blood from the infants at 48-96 hrs of age showed little change from the birth levels of factors V (89%), and VIII (116%) and a slight increase in factor XI level (39%). Four of the infants had received vitamin K1 and had higher levels of prothrombin and factors IX and X than the 7 who had not received vitamin K1.5. These results are compared with those of previous studies and the possible mechanisms underlying the changes is discussed.

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 Intrauterine Upper Limb Ischemia: An Unusual Presentation of Fetal Thrombophilia—A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-6
Author(s):  
Samer Abdelrazeq ◽  
Abdullatif Alkhateeb ◽  
Hani Saleh ◽  
Haitham Alhasan ◽  
Hatem Khammash
Keyword(s):  
Risk Factors ◽  
Upper Limb ◽  
Neonatal Period ◽  
Factor V Leiden ◽  
Vascular Occlusion ◽  
Limb Ischemia ◽  
Factor V ◽  
Review Of The Literature ◽  
Artery Thrombosis ◽  
Glycoprotein Iiia

Upper limb ischemia presenting in neonatal period is extremely rare. Moreover, presenting newborn with evidence of intrauterine upper limb vascular occlusion is even rarer. It needs prompt intervention to restore perfusion and avoid morbidity. We present a newborn with right upper limb brachial artery thrombosis causing ischemia that was noted at birth and appeared later to be homozygous for factor V Leiden and glycoprotein IIIa with no other identifiable risk factors. In this report, we present the case, its successful medical management, proper counseling, and review of the literature. We recommend investigating the neonates and their parents for thrombophilia mutations when they present with unusual vascular occlusion site as newborns.

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