Investigating Inherited Causes in Patients Presenting with Thrombophilia
DOI:
https://doi.org/10.51253/pafmj.v75i6.9671Keywords:
Heritability, Thromboembolism, ThrombophiliaAbstract
Objective: To determine the frequency of different causes of inherited thrombophilia and evaluate clinical presentations in patients presenting with documented venous or arterial thrombosis.
Study Design: Cross-sectional study.
Place and Duration of Study: Armed Forces Institute of Pathology Rawalpindi, Pakistan from Jan to Jun 2022.
Methodology: One hundred and seven patients who fulfilled the selection criteria and gave informed consent in written form were enrolled. Clinical presentations were noted down and patients were assessed for inherited thrombophilia. Polymerase chain reaction was used for the detection of factor V Leiden mutation and prothrombin gene mutation. Pro C global clotting based screening test was used to determine the anticoagulatory capacity of protein C and S. Quantitative determination of the functional activity of antithrombin was performed on CS5100 automated coagulation analyzer.
Results: The mean age of the patients was 29.31±14.17 years. Inherited thrombophilia was present in 26(24.3%) patients. Factor V Leiden mutation was present in 14(53.8%), antithrombin deficiency in 6(23.1%), protein C deficiency in 3(11.5%), protein S deficiency in 2(7.7%) and prothrombin gene mutation in 1(3.9%) patient. Commonest clinical presentation was deep venous thrombosis in 10(38.5%) patients followed by pulmonary embolism in 5(19.2%), portal vein thrombosis in 3(11.5%), superficial venous thrombosis in 3(11.5%).
Conclusion: The commonest inherited cause of thrombophilia was factor V Leiden mutation and the commonest presenting complaint was deep venous thrombosis.
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