Thrombophilia

Venous thromboembolism (VTE) is a blood clot that forms in the vein. Affecting one in a thousand people annually,¹ VTE is responsible for more deaths per year than breast cancer, HIV and motor vehicle crashes combined.² VTE presents clinically as deep vein thrombosis (DVT), or blood clots in the veins of the leg, pelvis and – sometimes – alternate sites. If a deep vein thrombosis breaks off and travels through the bloodstream to the lungs, it can cause a life-threatening blockage called pulmonary embolism (PE). For almost one-quarter of patients with a pulmonary embolism, sudden death is the first clinical symptom.³

VTE is highly associated with thrombophilia, the predisposition to develop blood clots. There are two types of thrombophilia: acquired and inherited.

Acquired thrombophilia can be a result of external factors such as immobilization from travel, illness or obesity. Inherited thrombophilia, on the other hand, is the result of genetic mutations that affect the amount and/or function of proteins in the coagulation system. The most common inherited thrombophilias are due to mutations in the F5 and F2 genes. It is estimated that up to 30-50% of VTE patients have some form of inherited thrombophilia.⁴