factor V leiden disease has elevated PE risk

It is unusual for an otherwise healthy 37-year-old to suddenly develop a DVT, especially in the absence of any recent provoking factors such as trauma, surgery, or a long plane trip. The sudden death of this patient’s paternal uncle at a young age should raise a red flag that he may have an inherited hypercoagulable condition. The most common cause of inherited thrombophilia (accounting for approximately 50% of cases) is Factor V Leiden, the presence of which results in a resistance to the antithrombotic effects of protein C. Confirming a diagnosis of inherited thrombophilia is extremely important because these patients have an increased risk of developing DVTs, pulmonary emboli, and blood clots in other locations. As a result, they may need to be placed on lifelong anticoagulation.

A prothrombin gene mutation (G20210A) is a common cause of inherited thrombophilia, but it does not necessarily result in a higher level of the protein.

Protein S helps to block coagulation and deficiency of it can lead to thrombophilia. Inherited protein S deficiency is rare compared to the frequency of Factor V Leiden. Antithrombin III deficiency is a relatively rare cause of inherited thrombophilia. Abnormalities in the quantity or functioning of fibrinogen can lead to either bleeding or clotting disorders. However, Factor V Leiden is a more common cause of inherited thrombophilia.