Comparison of two methods for factor five Leiden detection in patients with thromboembolism

Ghorbani, Mohammad; Hamidpour, Mohsen; Nematallahi, Mahmoud Reza; Niazkar, Hamid Reza

doi:10.4066/biomedicalresearch.29-17-2646

Cited by 2 publications

(5 citation statements)

References 14 publications

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“…In a study conducted in Iran by Ghorbani et al, in 2018 that showed 100% compatible results for APCR screening result and PCR. 1 This same study was conducted after exclusion of history of anticoagulant drugs which showed that the very same patients who had Positive APCR results also had positive PCR results with 100% compatibility. In their study there are 26.7% cases which are positive for heterozygous mutation and 8.9% cases are homozygous, 1 that is much greater than our study in which there are 41 (97.61%) heterozygous cases and 1 (2.3%) homozygous cases.…”

Section: Discussionmentioning

confidence: 99%

“…Prevalence have been found to 2.5% in Asians and 1.9% in Saudi Arabs respectively. 1 Laboratory tests can be screening and diagnostic assays. The screening tests are used to screen for the presence or absence of disease, while the diagnostic tests provide confirmatory evidence of disease.…”

Section: Discussionmentioning

confidence: 99%

“…Embolism. 1 There is disruption of local blood flow as a result of clots formed in the deep veins of legs and these patients have tendency of having venous insuffiency and later on developing pulmonary emboli. 2 Venous Thromboembolism results from a complex interaction of environmental, genetic and acquired factors.…”

Section: Venous Thromboembolism Includes Deep Vein Thrombosis and Pul...mentioning

confidence: 99%

“…The genetic risk factors include quantitative and qualitative abnormalities of naturally occurring anticoagulants including Protein C, Protein S or Antithrombin or defects causing an increase in the prothrombotic factors like Factor V Leiden mutation, Prothrombin mutation prolonged hospitalization or immobilization. 1 Persons having a genetic predisposition have increased risk of developing thrombosis than normal population. Prevalance for FV Leiden mutation varies from 4-5% in the general population.…”

Section: Venous Thromboembolism Includes Deep Vein Thrombosis and Pul...mentioning

confidence: 99%

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Diagnostic Accuracy of Different Methods in Detecting Factor V Leiden Mutation in Tertiary Care Centre

Barlas

Robert

Mahmood

et al. 2022

PAFMJ

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Objective: To determine the diagnostic accuracy of clotting based APCR assay in determining Factor V Leiden mutation with PCR as gold standard and to establish the frequency of factor V Leiden mutation in patients presenting with thrombophilia as well as to study their clinical presentations and association with arterial or venous thrombosis. Study Design: Cross sectional study. Place and Duration of Study: Army Forces Institute of Pathology (AFIP), Rawalpindi Pakistan, from Dec 2018 to Sep 2019. Methodology: A total of 230 patients were recruited which presented with DVT and other thrombotic conditions. Acquired causes of Factor V Leiden mutation were excluded from our study. For Screening tests APCR, blood was collected in 3.2% sodium citrate tubes while for PCR blood was collected in K2 EDTA tubes. Results: On Screening, APCR test 44 (19.29%) showed positive results with cut-off value of <0.8 while 184 (80.70%) were negative. Out of total 230 patients, Factor-v mutation was detected in 42 (18.4%) of patients. On statistical analysis, Screening APCR was found to be 95.45% (95% sensitive CI: 83.84%-99.42%) and 97.85% (95%CI: 94.59%-99.41%) specific as compared to our gold standard method PCR. The positive likelihood ratio was 44.39 (95%CI: 16.76-117.03) while the negative likelihood ratio was 0.05 (95%CI: 0.01-0.19) with a positive predictive value and a negative predictive value of 91.30% (95% CI: 79.10%- 96.35%) and 98.91% (95%CI: 95.92%-99.72%), respectively. The accuracy was 97.39% (95% CI: 94.36%-99.03%). Conclusion: APCR for Factor-v Leiden Screening is a rapid and cost-effective method for diagnosis of Factor-v Leiden mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Venous Thromboembolism Includes Deep Vein Thrombosis and Pul...mentioning

confidence: 99%

Section: Venous Thromboembolism Includes Deep Vein Thrombosis and Pul...mentioning

confidence: 99%

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Diagnostic Accuracy of Different Methods in Detecting Factor V Leiden Mutation in Tertiary Care Centre

Barlas

Robert

Mahmood

et al. 2022

PAFMJ

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“…Although most DVT patients exhibit clinically subtle signs and symptoms, the symptoms may be noticeable depending on vascular in ammation and obstruction level. We should consider FVL-detecting tests in DVT patients because FVL mutation is one of the most prevalent reasons for thrombophilia, especially in young and pregnant women [4]. We present a case of recurrent Thromboembolism leading to chronic hypertension and cor-pulmonale due to Factor V Leiden mutation.…”

Section: Introductionmentioning

confidence: 95%

Recurrent Thromboembolism due to Factor V Leiden Mutation: A Case Report

Kanwal

Gul²,

Khan³

et al. 2023

Preprint

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The Factor V Leiden (FVL) mutation is the most prevalent genetic risk factor for VTE, with a prevalence of roughly 5% in the Caucasian population. Our patient presented with progressive right leg swelling, cough, and shortness of breath for 3 months. Investigations revealed elevated hemoglobin and positive D-dimers, and a CT scan confirmed a bilateral massive subacute pulmonary embolism. Based on the results of thrombophilia testing, our final diagnosis was Recurrent Thrombo-embolism due to Factor V Leiden Mutation. The patient received anticoagulant therapy and underwent multiple venesections, subsequently improving symptoms. Follow-up examinations showed cor pulmonale secondary to the chronic thromboembolic phenomenon. This case report highlights the significance of identifying and managing thrombophilic conditions like Factor V Leiden mutation in patients with recurrent venous Thromboembolism.

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Comparison of two methods for factor five Leiden detection in patients with thromboembolism

Abstract: Introduction: Factor five Leiden is one of the most important hereditary risk factors for thrombotic

Cited by 2 publications

References 14 publications

Diagnostic Accuracy of Different Methods in Detecting Factor V Leiden Mutation in Tertiary Care Centre

Diagnostic Accuracy of Different Methods in Detecting Factor V Leiden Mutation in Tertiary Care Centre

Recurrent Thromboembolism due to Factor V Leiden Mutation: A Case Report

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