Prevalence of inherited thrombophilia and associated VTE risk

Thrombophilia	Prevalence (%)		Relative risk of a first episode of VTE compared with controls
Thrombophilia	General population	Individuals with VTE
AT deficiency	0.02 to 0.2%	1 to 7%	16-fold increased
Protein C deficiency	0.2 to 0.5%	2 to 5%	7-fold increased
Protein S deficiency	Unknown	1%	5-fold increased
Factor V Leiden*	2 to 5%	12 to 18%	4- to 5-fold increased
Prothrombin G20210A*	2%	5 to 8%	3- to 4-fold increased

These prevalences and risk estimates were aggregated from multiple studies. Refer to UpToDate content on specific inherited thrombophilias for further information on risk factors, indications for testing, and management. For FVL and prothrombin G20210A, values refer to heterozygotes. If the individual is homozygous for the defect, the risk of VTE is expected to be considerably higher. VTE risk also depends on other factors such as age and comorbidities.

VTE: venous thromboembolism; AT: antithrombin; FVL: factor V Leiden.
* Applies to White populations; prevalence is much lower in other groups.

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Prevalence of inherited thrombophilia and associated VTE risk