The role of endothelial cell protein C receptor gene polymorphism in venous thromboembolic disease: a case report and literature review.

Deep vein thrombosis (DVT) is one of the most serious cardiovascular disease in all age groups and implies an elevated risk for death, via pulmonary thromboembolism. Classically described as Virchow's triad, the main three factors implied are venous stasis, vascular wall lesion, and an increased coagulation vs. fibrinolytic mechanism. These pathophysiological conditions are fulfilled when various predisposing factors meet the environmental risk factors. The clinical judgment points that if, in certain situations, when the likelihood of an inherited propensity for thrombosis is very high, the search for a specific trait has to be done, and sometimes beyond the current guideline recommendations, because it could be related to future recurrences and could identify potential other relatives at increased risk for this serious pathology. In this article, we discuss a case involving a 45-year-old man who was admitted for sudden-onset dyspnea. The clinical presentation, along with a family history of thrombophilia, raised initial suspicion of pulmonary embolism, which was confirmed by a chest computed tomography (CT) scan with contrast enhancement. Both the patient and his family members underwent extensive tests for hypercoagulable disorders, which returned positive results. We review the current evidence and reassess the importance of thrombophilia testing in similar patients, highlighting the role of EPCR in venous thromboembolic disease.