What is the role of genetic factors in the etiology of deep venous thrombosis (DVT)?

Updated: Jun 05, 2019
  • Author: Kaushal (Kevin) Patel, MD; Chief Editor: Barry E Brenner, MD, PhD, FACEP  more...
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Answer

Genetic mutations within the blood’s coagulation cascade represent those at highest risk for the development of venous thrombosis. Genetic thrombophilia is identified in 30% of patients with idiopathic venous thrombosis. Primary deficiencies of coagulation inhibitors antithrombin, protein C, and protein S are associated with 5-10% of all thrombotic events. [84, 85, 86] Altered procoagulant enzyme proteins include factor V, factor VIII, factor IX, factor XI, and prothrombin. Resistance of procoagulant factors to an intact anticoagulation system has also recently been described with the recognition of factor V Leiden mutation, representing 10-65% of patients with DVT. [87] In the setting of venous stasis, these factors are allowed to accumulate in thrombosis prone sites, where mechanical vessel injury has occurred, stimulating the endothelium to become prothrombotic. [88]


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