Abstract
Background Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of inherited thrombophilia cannot be ignored. In view of this, we have evaluated all patients with venous thromboembolism for inherited thrombophilia. Objective To evaluate the frequencies of antithrombin (AT) deficiency, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations in patients harboring venous thromboembolism. Materials and Methods A study comprising of 880 patients who were presented with manifestations of venous thromboembolism was conducted from July 2016 to June 2017. A blood sample collected from patients was screened for thrombophilia defects encompassing AT, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations. All acquired causes of thrombosis were excluded. Results Of 880 patients who underwent screening for thrombophilia, 182 patients demonstrated VTE history. Their age ranged from 1 to 58 years. Males constituted a predominant group. About 45 (24.7%) patients had evidence of heritable thrombophilia. Of these, 20 (10.9%) had AT deficiency, 9 (4.9%) had Factor V Leiden mutation, 6 (3.2%) had protein C deficiency, whereas protein S deficiency and prothrombin gene mutation both were found in 5 (2.7%) patients. Conclusion Our study illustrated the highest frequency of antithrombin deficiency among other investigated thrombophilia defects.
Highlights
Venous thromboembolism (VTE), a multifactorial condition which involves formation of blood clots either in a deep vein (deep vein thrombosis (DVT)) or thrombus fragments can dislodge into the lungs (pulmonary embolism (PE)), is associated with significant fatality rate [1]
Where there are a number of known acquired risk factors, heritable thrombophilia represents a small but significant group which contributes to the pathogenesis of VTE by promoting hypercoagulability which is often presented as a moderate risk for VTE [4, 5]. e interaction of inherited and acquired risk factors is needed for the disease
182 patients had clinical, radiological, and laboratory evidence of venous thromboembolism. e median age at diagnosis was 28 years. ere were 125 (69%) males and 57 (31%) females with a male to female ratio of 2.2 : 1. Among these, 139 (76%) patients had a first episode of VTE, while 43 (24%) had a history of recurrent venous thrombosis
Summary
Venous thromboembolism (VTE), a multifactorial condition which involves formation of blood clots either in a deep vein (deep vein thrombosis (DVT)) or thrombus fragments can dislodge into the lungs (pulmonary embolism (PE)), is associated with significant fatality rate [1]. While venous stasis has been identified as the main consequential component among the three contributing factors for the occurrence of VTE, it alone cannot lead to thrombus formation and either of the two factors must be present for disease development. Where there are a number of known acquired risk factors, heritable thrombophilia represents a small but significant group which contributes to the pathogenesis of VTE by promoting hypercoagulability which is often presented as a moderate risk for VTE [4, 5]. We have evaluated all patients with venous thromboembolism for inherited thrombophilia. To evaluate the frequencies of antithrombin (AT) deficiency, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations in patients harboring venous thromboembolism. A blood sample collected from patients was screened for thrombophilia defects encompassing AT, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations. Our study illustrated the highest frequency of antithrombin deficiency among other investigated thrombophilia defects
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