scholarly journals Genetic and Risk Factors in Central Retinal Venous Occlusion with Macular Edema

2019 ◽  
pp. 5-8
Keyword(s):  
Risk Factors ◽  
Systemic Risk ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Venous Occlusion ◽  
Factor V ◽  
Thromboembolic Events ◽  
Orbital Masses ◽  
Methyltetrahydrofolate Reductase

Retinal venous occlusions are the most common cause of blindness after diabetic retinopathy. The incidence of the disease increases with age. There are systemic, genetic, and ocular risk factors that set the background of the disease. Methyltetrahydrofolate reductase (MTHFR) enzyme gene mutation (MTHFR C677T) increases the plasma levels of homocysteine and the thrombosis tendency. Factor V Leiden polymorphism FVR506Q, prothrombin (FII) G20210A, angiotensin-converting enzyme (ACE) ins287del and angiotensinogen (AGT) T235M are other common gene mutations for thromboembolic events. Systemic risk factors such as hypertension, hyperlipidemia, cigarette smoking, diabetes mellitus, and obesity are diseases that make atherosclerosis. Other ocular risk factors are glaucoma, orbital masses with inflammation, and glob trauma.

scholarly journals Inherited Risk Factors of Thromboembolic Events in Patients with Primary Nephrotic Syndrome

Medicina ◽  
2020 ◽  
Vol 56 (5) ◽  
pp. 242 ◽  
Author(s):  
Gener Ismail ◽  
Bogdan Obrișcă ◽  
Roxana Jurubiță ◽  
Andreea Andronesi ◽  
Bogdan Sorohan ◽  
...  
Keyword(s):  
Risk Factors ◽  
Nephrotic Syndrome ◽  
Genetic Testing ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Thromboembolic Events ◽  
Factor V Leiden Mutation ◽  
Venous Thromboembolic Events ◽  
Inherited Risk

Background and objectives. Venous thromboembolic events (VTEs) are among the most important complications of nephrotic syndrome (NS). We conducted a study that aimed to determine the prevalence of inherited risk factors for VTE in NS and to identify which factors are independent predictors of VTE. Materials and Methods. Thirty-six consecutive patients with primary NS that underwent percutaneous kidney biopsy between January 2017 and December 2017 were enrolled in this retrospective, observational study. VTEs were the primary outcome. Baseline demographic and biochemical data were collected from medical records, and genetic testing was done for polymorphisms of Factor V, PAI, MTHFR, and prothrombin genes. Results. The incidence of VTE was 28%, and the median time to event was 3 months (IQR: 2–9). The prevalence of inherited risk factors was 14% for Factor V Leiden mutation, 5.6% for prothrombin G20210A, 44.5% for PAI, and 27.8% for each of the two polymorphisms of the MTHFR gene. On multivariate analysis, the presence of at least two mutations was independently associated with the risk of VTE (HR, 8.92; 95% confidence interval, CI: 1.001 to 79.58, p = 0,05). Conclusions. These findings suggest that genetic testing for inherited thrombophilia in NS could play an important role in detecting high-risk patients that warrant prophylactic anticoagulation.

scholarly journals Molecular Analysis of Factor V, Prothrombin and Methylenetetrahydrofolate Redutase in Thrombolic Patients

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 5050-5050
Author(s):  
Aldair Sousa Paiva ◽  
Hugo Diogenes De Oliveira Paiva ◽  
Geraldo Barroso Cavalcanti ◽  
Gioconda DR Leão ◽  
Marcos Dias Leão ◽  
...  
Keyword(s):  
Risk Factors ◽  
Conflicts Of Interest ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Hereditary Risk ◽  
Hemostatic System ◽  
Pcr Rflp ◽  
Prothrombin Gene ◽  
Detection Of Mutations

Abstract Background: The study of thrombotic events requires knowledge of changes in the hemostatic system associated with multiple acquired and hereditary risk factors that suggest predisposition to thrombosis. The factor V or Leiden (G1621A), Prothrombin (G21210A) and Methylenetetrahydrofolate redutase-MTHFR (C677T) mutations are the major genetic risk factors for venous thrombosis. This study assessed the frequency of mutations of the Factor V (Leiden), Prothrombin and MTHFR in patients with thrombophilia from the DNA Center Laboratory, Natal - RN. Methods: The detection of mutations was made by PCR-RFLP followed by enzymatic restriction with HindIII (Leiden and Prothrombin) and HinfI (MTHFR). Results: From 69 selected patients, 52 (75.36%) were females and 35 (24.64%) were males. The frequency of genotypes for the Factor V were: 3 mutated homozygous (4.35%), 4 heterozygous (5.80%) and 62 normal homozygous (89.85%). Regarding the mutation in the Prothrombin gene it was observed in 65 normal homozygous patients (94.2%) and 4 (5.8%) heterozygous. The analysis of the mutation in the gene MTHFR showed 35 (50.7%) normal homozygous patients, 5 (7.2%) mutated homozygous patients and 29 heterozygotes patients (42.1%). Conclusions: Approximately 50% of patients tested had at least one type of genetic alteration combined. Based on data obtained it is indicated the investigation of three markers (Factor V, Prothrombin and MTHFR) thrombophilia-related, targeting the real impact of the molecular mutations in thrombosis and the conduct of treatment. Disclosures No relevant conflicts of interest to declare.

Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations

2019 ◽  
Vol 56 (2) ◽  
pp. 143-144
Author(s):  
Nazli Dilay Gultekin ◽  
Fatma Hilal Yilmaz ◽  
Huseyin Tokgoz ◽  
Nuriye Tarakci ◽  
Umran Caliskan
Keyword(s):  
Gene Mutations ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Glanzmann Thrombasthenia

scholarly journals Thrombophilia gene mutations in relation to recurrent miscarriage

2018 ◽  
Vol 7 (3) ◽  
pp. 796 ◽  
Author(s):  
Tawfik Abdelsalam ◽  
Tarek Karkour ◽  
Magdy Elbordiny ◽  
Dina Shalaby ◽  
Ziad S. Abouzeid
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Recurrent Miscarriage ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Total Prevalence ◽  
History Of ◽  
Prothrombin Gene

Background: Recurrent pregnancy loss is multifactorial involving clinical and biological risk factors. Evidence addressed the association of inherited thrombophilia with recurrent pregnancy loss and other serious pregnancy complications. However, the relation between thrombophilia associated gene mutations and adverse obstetric outcome is controversial and data in the literature are inconsistent. The aim of this study was to investigate the prevalence of thrombophilia associated gene mutations (factor V Leiden, prothrombin gene G20210A and methylene-tetrahydrofolate reductase MTHFR C677T) in relation to recurrent miscarriage.Methods: Case control study conducted on 200 women recruited from Elshatby Maternity Hospital clinics. The cases group included 100 women with history of three or more unexplained consecutive pregnancy losses, while 100 healthy age matched women with no history of recurrent miscarriages served as controls. Blood samples were collected from all women enrolled in the study for DNA extraction and genotype analysis. Factor V, prothrombin and MTHFR gene mutations were assayed based on polymerase chain reaction (PCR) and reverse-hybridization.Results: The prevalence of Factor V Leiden and prothrombin gene G20210A mutations did not differ significantly between cases and controls. However, MTHFR C667T mutations and the total prevalence of the three gene mutations were significantly increased in the patients group compared to controls (p=0.001, p=0.003 respectively). The prevalence of combined thrombophilia of Factor V Leiden and MTHFR C677T was significantly increased in the patients group compared to controls (p=0.032). Regarding homozygosity of each of the gene mutations, no homozygosity was detected in controls and heterozygotes were significantly increased in the patients group compared to homozygotes.Conclusions: MTHFR mutations and the total prevalence of the three gene mutations were significantly increased in the patients group compared to controls. There was a significant increase in the prevalence of combined thrombophilia (Factor V Leiden and MTHFR C677T) in the patients group compared to controls without involvement of prothrombin gene.

Correlation of Genetic Polymorphisms Detected by Geneohm EPLEX™ Electrochemical Platform with Functional Study for Venous Thrombosis.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4054-4054
Author(s):  
Bo Xu ◽  
Steven Thompson ◽  
Carol Koenigberger ◽  
James Pettay ◽  
Arkadiy Silbergleit ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Genetic Polymorphisms ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Plasma Homocysteine ◽  
Functional Study ◽  
Prothrombin G20210a ◽  
Factor V ◽  
History Of

Abstract Venous thrombosis (VT) is a multi-factorial disorder with both congenital and acquired risk factors. Mutations in several genes, such as factor V, prothrombin and methylene tetrahydrofolate reductase (MTHFR), are considered risk factors for thrombophilia. Since multiple mutations compound the risk for (VT), simultaneous discovery of mutations could directly alter patient management. In this study, we employed the GeneOhm ePlex™ platform to simultaneously detect genetic polymorphisms for six markers: factor V Leiden (FVL) and HR2A45374G, prothrombin G20210A, MTHFR C677T and A1298C, and plasminogen activator inhibitor 1 (4G/5G). Fifty-one patient samples were selected. Each sample was genotyped for all six markers on the GeneOhm ePlex™ electrochemical array and data from functional studies were analyzed and compared to the genotyping results. Among the 51 patients, 16 were tested for activated protein C resistance and the average values were 1.22, 1.76 and 2.64 for FVL homozygous, heterozygous and wild type normal patients, respectively. In addition, the average plasma homocysteine levels measured in 17 patients were 15.40, 6.42 and 11.93, 12.63 mmol/L for MTHFR C677T homozygous, heterozygous and MTHFR A1298C heterozygous and C677T/A1298C double heterozygous, respectively. Furthermore, 10 out of 11 patients with history of deep venous thrombosis (DVT) and/or pulmonary embolism (PE) displayed genetic abnormalities in FVL or prothrombin G20210A. The other patient with history of both DVT and PE showed homozygous in MTHFR C677T with high plasma homocysteine level (22.3 mmol/L) and heterozygous mutation in PAI-1. This study demonstrates the principle of multiplexed molecular diagnostics for the polymorphisms associated with thrombophilia and the utility of the GeneOhm ePlex platform. The study is being expanded to test a larger set of samples to establish the relationship between genetic polymorphism and corresponding clinical outcome for all six markers.

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 > 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 > 1 PC. The most common RF was the presence of > 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 Frequency of Thrombophilia-Related Genetic Variations in Patients with Idiopathic Pulmonary Embolism in an Urban Emergency Department

2006 ◽  
Vol 52 (6) ◽  
pp. 1026-1032 ◽  
Author(s):  
Lori Kruse ◽  
Alice M Mitchell ◽  
Carlos A Camargo ◽  
Jackeline Hernandez ◽  
Jeffrey A Kline
Keyword(s):  
Risk Factors ◽  
Pulmonary Embolism ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Polymorphism Analysis ◽  
Sequence Variant ◽  
Factor V

Abstract Background: The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. Methods: This prospective case–control study included patients presenting to urban emergency departments (EDs) with chest pain or shortness of breath. Cases were classified as idiopathic PE (49 patients with PE, but without overt risk factors for thrombosis). Control groups included (a) patients with nonidiopathic PE (152 patients with PE and risk factors); (b) patients in whom PE was excluded (91 patients who had PE ruled out with a structured protocol, including follow-up); and (c) patients in whom PE was not suspected (193 patients without a workup for PE, who were free of PE on follow-up). Blood DNA extracts were analyzed by PCR and restriction fragment length polymorphism analysis for the FVL, prothrombin, and MTHFR sequence variations. Results: Either the FVL or prothrombin variant was found in 10% (95% confidence interval, 3%–22%) of patients with idiopathic PE compared with 13% (8%–20%) of nonidiopathic PE, 2% (5%–14%) of PE excluded, and 9% (5%–14%) of PE not suspected patients. Patients with idiopathic PE tended to have a higher frequency of homozygous MTHFR sequence variants, but mean (SD) plasma homocysteine concentrations were not increased [15.6 (5.4) μmol/L vs 12.8 (4.6) μmol/L for homozygous, and wild-type, respectively; P = 0.40]. Conclusions: The frequency of either the FVL or prothrombin sequence variant was not increased in idiopathic PE patients compared with nonidiopathic PE patients or patients who had PE excluded. These data suggest that genotyping to detect idiopathic PE would have limited clinical utility in the urban ED setting.

scholarly journals Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium

2005 ◽  
Vol 62 (3) ◽  
pp. 201-205 ◽  
Author(s):  
Valentina Djordjevic ◽  
Ljiljana Rakicevic ◽  
Milos Spasic ◽  
Predrag Miljic ◽  
Danijela Mikovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
First Episode ◽  
Factor V ◽  
G20210a Mutation ◽  
Fv Leiden ◽  
Heterozygous Carriers

Background. Venous thrombosis is the most common cause of obstetric morbidity and mortality during pregnancy and puerperium. The incidence of pregnancy associated venous thrombosis varies from 1 in 1000 to 1 in 2000 deliveries. Factor V G1691A (FV Leiden), FII G20210A and MTHFR C677T mutations are the most common genetic risk factors for thromboembolism. The aim of this study was to establish the presence of these risk factors in a group of women with an episode of deep venous thrombosis during pregnancy or puerperium. Methods. The study was carried in a group of 45 women with the first episode of deep venous thrombosis during pregnancy or puerperium. The patients with antiphospholipid antibodies, antithrombin III, protein C or protein S deficiency, and autoimmune and malignant diseases were excluded from the study. FV Leiden, FII G20210A, and MTHFR C677T mutations were detected by polymerase chain reaction, followed by digestion with specific restriction enzymes. Results. Twenty heterozygous carriers of the FV Leiden mutation and one homozygous carrier were detected, which represents the frequencies of 44.4% and 2.2%, respectively. For the FII G20210A mutation, six heterozygous carriers were identified, giving the frequency of 13.3%. The MTHFR C677T mutation was observed in 31 patients (22 heterozygous and 9 homozygous carriers) which represents the frequencies of 48.9% and 20%, respectively. Conclusion. Our study suggested that the obligatory testing for FV Leiden and FII G20210A mutations was strongly recommended in women with history of venous thrombosis during pregnancy and puerperium. We found a slight effect of MTHFR 677T allele, but it should be considered in association with other risk factors.

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