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Inherited Venous Thrombosis

Source: www.labcorp.com
Topic: Thrombosis
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Sort Desciption: Background In the United States, venous thrombosis is the third most common cause of cardiovascular disease, with a prevalence of 1 in 1,000 individuals. 1 It is reported that each year there are approximately 600,000 patients ...

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Background In the United States, venous thrombosis is the third most common cause of cardiovascular disease, with a prevalence of 1 in 1,000 individuals. 1 It is reported that each year there are approximately 600,000 patients with pulmonary embolism (PE). Of these cases, there will be 100,000 fatalities attributed to this condition, one-half without a diagnosis prior to death. 2 Genetic causes are present in about 25 percent of unselected venous thrombosis cases, and as many as 63 percent of familial cases. 3 The inherited thrombophilias include factor V Leiden (R506Q), the prothrombin gene mutation (G20210A), protein S deficiency, protein C deficiency, antithrombin III deficiency and elevated homocysteine levels. 2 Factor V Leiden The most common genetic risk factor for venous thrombosis is a mutation in the factor V gene, called factor V Leiden (R506Q). When the factor V Leiden mutation is present, factor V becomes resistant to inactivation by activated protein C (APC), inactivated 10 times slower than normal, leading to an increased chance for clotting. Factor V Leiden (FVL) provides an explanation for 90 percent to 95 percent of individuals with functional APC resistance. 1,2 The FVL mutation is found in 12 percent to 20 percent of patients with their initial clot, even without family history. This increases to 40 percent to 50 percent in patients with recurrent clots or with a family history of venous thrombosis. 1 FVL is found in about 5 percent of the Caucasian population. ...

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