Frequency of Factor V Leiden in Patients Presenting With Venous Thromboembolism

Abstract

Objective: To determine the frequency of FVL mutation in patients of VTE presenting with or without predisposing environmental factors.

Methodology: It was a cross-sectional study conducted at Chughtai Institute of Pathology, from August 2022 to June 2023. The study included 80 adult patients aged 15 years and above and both genders, who were recently diagnosed with venous thromboembolism at any site in the body through radiological investigations (colored Doppler ultrasound) and put on anticoagulants. Data was collected from 80 diagnosed cases of VTE after informed consent over a period of 10 months. 5ml Blood sample in EDTA vial was analyzed for FVL using real time PCR after extracting DNA via kit method. The results were correlated with the clinical history and recurrence of the disease. Cases of VTE with or without any predisposing environmental factor and who were recently put on anticoagulant therapy were included in the study.

Results: FVL mutation was detected in 22.5% of the sample population affecting 18 individuals out of 80 patients with heterozygous mutation being more common. Recurrence was observed with FVL mutation suggesting significant association of recurrence with mutation (p value <0.05).

Conclusion: FVL mutation was found to be one of the common causes of VTE being identified in >20% of the population under study and was more likely associated with the recurrence of the disease in patients once their anticoagulants were put on hold.