scholarly journals Massive Pulmonary Embolism Associated With Factor V Leiden, Prothrombin, and Methylenetetrahydrofolate Reductase Gene Mutations in a Young Patient on Oral Contraceptive Pills: A Case Report

2009 ◽  
Vol 16 (5) ◽  
pp. 594-598 ◽  
Author(s):  
Khalil M. Charafeddine ◽  
Rami A. Mahfouz ◽  
Georges Y. Ibrahim ◽  
Ali T. Taher ◽  
Jamal J. Hoballah ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Oral Contraceptive ◽  
Methylenetetrahydrofolate Reductase ◽  
Oral Anticoagulants ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Massive Pulmonary Embolism ◽  
Factor V ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills

Factor V Leiden (Factor V G1691A), prothrombin gene mutation G20210A, and homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene are known to predispose venous thromboembolism (VTE). We present herein a rare case of a young woman heterozygous for these mutations and taking oral contraceptive pills for less than 2 months, diagnosed to have massive deep venous thrombosis and bilateral pulmonary embolism. The patient was managed for 10 days in the hospital and discharged home on oral anticoagulants. This case suggests that screening for these factors in people with family history of thrombosis and in relatives of patients with these mutations is highly recommended to prevent fatal consequences. In addition, a new guideline for treatment and prophylaxis with anticoagulant for these patients and others who are at risk of developing VTE (American College of Chest Physicians [ACCP] guidelines-Chest 2008) has been published recently. Our recommendation is to promote for the internationally published algorithms through their application, where necessary, to prevent any future thrombotic morbidity or mortality incidents.

scholarly journals The Effect of Oral Contraceptive Pills on The Gene Mutation of Factor V Leiden among Sudanese Women

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Kawthar Abdelgaleil Mohammed Salih ◽  
Hiba Abdelmalik ◽  
Hiba Babiker ◽  
Ahmed Bakheet Abd Alla
Keyword(s):  
Oral Contraceptive ◽  
Gene Mutation ◽  
Oral Contraceptive Pill ◽  
Factor V Leiden ◽  
Factor V ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pill ◽  
Contraceptive Pills ◽  
Significant Difference ◽  
The Impact

Oral contraceptive pills are problems for women, often have many effects, and may cause several diseases. The purpose of this research was to determine the impact of oral contraceptive pills on factor V sufferers. This case-control study conducted in Khartoum Sudan during the period from April to November 2018. The study included 50 women who used oral contraceptive as a case and 50 women who did not use oral contraceptive pills as a control, all of whom were verbally informed of the study and approved for participation. The PCR do for each sample. The results obtained from cases show that the mean age is 30±5.5 and divided into three groups less than 20 with a lower frequency of 4 % (2/50), (20-35) with a higher incidence of 80 % (40/50) and a higher rate of 16 % (8/50) for more than 35 years. Most cases use the oral contraceptive pill for more than one year at a frequency of 60% (30/50) with a mean of 2±0.8. The most frequent oral contraceptive pill use was levonorgestrel 88% (44/50), followed by desogestrel 12% (6/50). The study concludes that there is no significant difference in gene mutation between case and control. There was also an insignificant association between the mutation and demographic data.

scholarly journals Thrombophilias: therapeutic employment of direct oral anticoagulants in venous hypercoagulable states

2020 ◽  
Vol 14 (3) ◽  
pp. 136-142
Author(s):  
Federico Cacciapuoti
Keyword(s):  
Arterial Thrombosis ◽  
Methylenetetrahydrofolate Reductase ◽  
Contraceptive Use ◽  
Vitamin K Antagonists ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Factor V ◽  
Venous Thromboembolic Events

Thrombophilia or hypercoagulable state is a predisposition to form clots. Thrombophilia can be inherited or acquired, and prevalently involves venous vessels. Inherited thrombophilia consists of congenital conditions, as methylenetetrahydrofolate reductase polymorphism, Factor V Leiden and prothrombin gene mutations, natural anticoagulant deficiencies, high level of factor VIII, or dysfibrinogenemia. These congenital disorders can be responsible for venous thromboembolism, particularly deep venous thrombosis, pulmonary embolism, and, less frequently, mesenteric veins thrombosis, kidneys’ veins thrombosis or retinal vein occlusion. Acquired thrombophilia can be associated both with venous and arterial thrombosis and may be caused by antiphospholipid syndrome, aging, some malignancies, oral contraceptive use, heparin-induced thrombocytopenia, and human immunodeficiency virus. Antiplatelets’ drugs are employed in arterial thrombosis, while, heparins/oral vitamin K antagonists are indicated for acute and long-term anticoagulation. However, new oral anticoagulants can be usefully used for venous thromboembolic events. Recent experiences demonstrated that their employment is useful in some thrombophilias only, whereas other investigations are requested to evaluate their use in all hypercoagulable disorders.

scholarly journals Pulmonary Embolism in a Sarcoidosis Patient Double Heterozygous for Methylenetetrahydrofolate Reductase Gene Polymorphisms and Factor V Leiden and Homozygous for the D-Allele of Angiotensin Converting Enzyme Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Nadim El-Majzoub ◽  
Rami Mahfouz ◽  
Nadim Kanj
Keyword(s):  
Pulmonary Embolism ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Angiotensin Converting Enzyme Gene ◽  
Converting Enzyme ◽  
Enzyme Gene ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Sarcoidosis is a multisystem granulomatous disease of unknown etiology and pathogenesis. It presents in patients younger than 40 years of age. The lungs are the most commonly affected organ. Till the present day, there is no single specific test that will accurately diagnose sarcoidosis; as a result, the diagnosis of sarcoidosis relies on a combination of clinical, radiologic, and histologic findings. Patients with sarcoidosis have been found to have an increased risk of pulmonary embolism compared to the normal population. MTHFR and factor V Leiden mutations have been reported to increase the risk of thrombosis in patients. We hereby present a case of a middle aged man with sarcoidosis who developed a right main pulmonary embolism and was found to be double heterozygous for methylenetetrahydrofolate reductase gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme gene.

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.

Pulmonary embolism and deep venous thrombosis during pregnancy or oral contraceptive use: Prevalence of factor V Leiden

1996 ◽  
Vol 131 (6) ◽  
pp. 1145-1148 ◽  
Author(s):  
Denise R. Hirsch ◽  
Katriina M. Mikkola ◽  
Peter W. Marks ◽  
Edward A. Fox ◽  
David M. Dorfman ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Oral Contraceptive ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Contraceptive Use ◽  
Factor V Leiden ◽  
Factor V ◽  
Oral Contraceptive Use
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