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.

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.

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

P-028 Prevalence of Factor V Leiden and prothrombin gene mutation G20210A in women with recurrent pregnancy loss

2013 ◽  
Vol 131 ◽  
pp. S84
Author(s):  
K. Vasilakos ◽  
D. Delkos ◽  
K. Kydonopoulou ◽  
E. Papadakis ◽  
K. Tsioni ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

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.

Association of factor V Leiden G1691A and prothrombin gene G20210A mutations with adverse pregnancy outcomes

2021 ◽  
pp. 1-15
Author(s):  
Sidra Asad Ali ◽  
Bushra Moiz ◽  
Lumaan Sheikh
Keyword(s):  
Gene Mutation ◽  
Pregnancy Outcomes ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Control Group ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene ◽  
Adverse Pregnancy

Abstract Objective: To determine the association of Factor V Leiden / prothrombin gene mutation in Pakistani women with adverse pregnancy outcomes. Method: The prospective study was conducted at the Aga Khan University Hospital, Karachi, from January 1 to December 31, 2016, and comprised females ?40 years having history of two or more foetal losses with no apparent aetiology. Restriction fragment length polymorphism- Polymerase chain reaction was performed using MnlI and HindIII restriction enzymes for factor V Leiden G1691A and prothrombin gene mutation G20210A. Females with two or more consecutive normal pregnancies were enrolled as the control group. Data was analysed using SPSS 19. Results: Of the 172 participants with a mean age of 29.3±5.9 years (range: 19-38 years). 86(50%) each were healthy controls and those with recurrent pregnancy loss. There were 238 livebirths among the controls compared to 13 in the other group. Factor V Leiden G1691A was identified in 2(2.3%) women, and prothrombin gene mutation G20210A in 1(1.2%) woman in the patient group, while no mutation was identified in the control group. Conclusion: The prevalence of Factor V Leiden / prothrombin gene mutation in women with recurrent pregnancy loss was found to be very low. Continuous....

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