Prevalence of Factor V Leiden and Other Inherited Thrombophilic Disorders in Patients Presenting with Thrombotic Events

Abstract

Background: Inherited thrombophilic disorders, particularly Factor V Leiden mutation, are important yet underrecognized contributors to venous and arterial thrombotic events.

Objective: To determine the frequency of different causes of inherited thrombophilia and evaluate clinical presentations in patients presenting with documented venous or arterial thrombosis.

Methodology: One hundred and twelve participants meeting the selection criterion and offering written informed consent were recruited. This is a cross-sectional study and conducted at the Department of Medicine, Northwest School of Medicine, Peshawar, Pakistan from March 2023 to February 2024. Clinical presentations were recorded and patients were assessed under inherited thrombophilia. Factor V Leiden mutation and prothrombin gene mutation were detected by the use of polymerase chain reaction. The anticoagulatory activity of protein C and S had been evaluated by a Pro C global clotting-based screening assay, and quantitative analysis of the functional antithrombin activity through a CS5100 automated coagulation analyzer.

Results: The average age of the patients was 30.78 +/-14.88 Years. Thrombophilia hereditary was detected in 27 (25.0) patients. The results found factor V Leiden mutation in 15 (55.6%), antithrombin deficiency in 6 (22.2%), protein C deficiency in 3 (11.1%), protein S deficiency in 2 (7.4), and prothrombin gene mutation found in 1 (3.7) patient. Deep venous thrombosis was the most frequent clinical manifestation, as it occurred in 11 (40.7) patients, then pulmonary embolism, which occurred in 5 (18.5), portal vein thrombosis, occurring in 3 (11.1), and superficial venous thrombosis in 3 (11.1).

Conclusion: The most frequent inherited cause of thrombophilia was factor V Leiden mutation, and the most common presenting manifestation was deep venous thrombosis.