Epidemiology

The exact incidence of thrombophilia is unknown. However, the epidemiology of heritable thrombophilia is well documented. Inherited thrombophilia affects up to 10% of the population. Up to 50% of white people with venous thromboembolism (VTE) will have a heritable thrombophilia. Up to 6% of the white population are reported to be affected by factor V Leiden (genetic mutation in factor V) and 2% by prothrombin gene mutations.[6][7] These mutations are rare in other ethnic groups.[8][9][10] However, most carriers of these mutations remain asymptomatic. Antithrombin, protein C, and protein S deficiencies are less common and affect up to 0.02% (antithrombin), 0.4% (protein C), and 0.13% (protein S) of the population.[11] These deficiencies are commonly found in Southeast Asians and are rare in black populations.[12][13][14] An elevated coagulation factor VIII level is the most common cause of thrombophilia in black people (it is found in up to 35% of black people with VTE).[15]

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