Background: Genetic thrombophilia work up performance is subject to debate because of the utility of the information it provides regarding prognosis of recurrence of venous thromboembolism (VTE) and guidance of duration of therapy with anticoagulation. Certain algorithms have been locally developed to guide decision making process to increase the yield of thrombophilia work up. These algorithms are not based on locally derived data. Data from the Eastern Mediterranean area (Lebanon) have shown high prevalence of thrombophilia mutations. Therefore the aim of this study was to describe the experience of a tertiary care center in thrombophilia work up among patients diagnosed with VTE.
Methods: A retrospective chart analysis of the cases diagnosed with pulmonary embolism or deep venous thrombosis with radiological confirmation.
Results: A total of 133 patients' charts were reviewed, 27 patients had thrombophilia work up performed, 56% had heterozygous MTHFR mutation, 44% were heterozygous for the Factor V Leiden mutation and 3.2% were found to have Factor II heterozygous mutations, and a total of 33.3% of patients had more than one genetic mutation. The common causes of provoked VTE were 59.53% malignancy, 22.64% post surgery, 12.98% bed ridden patients, and 4.85% oral contraceptive pills. Only 14% of patients with a malignancy who presented with VTE where receiving prophylactic heparin.
Discussion: Doubly heterozygous prothrombotic genetic mutations are commonly present among Eastern Mediterranean patients with VTE. A prospective study to determine the predictive (negative and positive) power of the currently followed algorithm for genetic thrombophilia work up remains of significant importance. Stressing the favorable role of VTE prophylaxis among patients suffering from malignancies remains a target for raising awareness among oncologists.