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Inherited thrombophilia: a double-edged sword

Inherited thrombophilia is a blood coagulation disorder that increases the risk for venous thromboembolism (VTE). During the last decades, the practice of testing has evolved from testing selected populations, leading to high perceived risks, to broad testing for various conditions that included VTE, arterial thrombosis, and pregnancy complications. Because results of such tests usually do not guide treatment decisions, not testing patients with VTE for inherited thrombophilia is on the “Choosing Wisely” list endorsed by multiple specialty societies, including ASH. Inherited thrombophilia can be regarded a double-edged sword, as despite the rationale not to test, it is still being performed…

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 Hereditary Thrombophilia - Hypercoagulability

Hereditary thrombophilias are prothrombotic conditions, including factor V Leiden (FVL), factor II c.*97G>A (also known as prothrombin G20210A), and anticoagulant protein deficiencies, that vary in severity and increase the risk of first-time and recurrent venous thromboembolism (VTE). Given that thrombotic risk is multifactorial and that a genetic predisposition to hypercoagulation does not guarantee VTE occurrence or recurrence, the decision to test for hereditary thrombophilia can be complicated. In most circumstances, treatment and prevention of VTE are guided more by clinical factors than by laboratory tests. If laboratory testing is performed, functional, antigenic, and/or genetic assays may be used.

 To Test or Not to Test: The Inherited Thrombophilia Question

Among the disorders caused by mutations that are easily tested and identified, hypercoagulable mutations are of particular interest. The sense of fear, lack of control and potentially devastating consequences of a blood clot are strong motivators for families and practitioners who may believe that testing and knowledge will mitigate risk. However, most of the time, screening asymptomatic individuals of any age – but especially children – may result in overtreatment rather than clot prevention.

Articles of Interest

Factor V Leiden Thrombophilia

Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep venous thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common.

Hereditary thrombophilia

This review describes clinically relevant aspects of genetic venous thrombophilia, which include well-established, lesser known, and suggested causes of inherited thrombophilias.

No-one knew about my blood condition'

He was only in his 20s and had not been on any long distance flights and there seemed no obvious reason for his problems. But a series of tests revealed he was suffering from a genetic condition called Protein S Deficiency.

The Genetics of Thrombophilia

Thrombophilia is usually categorized into two types–acquired and inherited. In acquired thrombophilia the abnormal clotting is usually related to a specific cause, such as prolonged periods of bed rest after surgery, trauma to the leg, or having cancer. People with inherited thrombophilia tend to form clots due to a genetic predisposition inherited from their parents. People with inherited thrombophilia may have a family history of relatives with abnormal or excessive blood clotting. This brochure will explain how genes play a role in blood clotting and are related to inherited thrombophilia.

To test or not to test for inherited thrombophilias

First consider whether a deep venous thrombosis was provoked or unprovoked, as well as at the type of provoking factors.

What Are Common Inherited Thrombophilias?

Thrombophilia can be inherited or acquired (such as antiphospholipid syndrome). The risk of thromboembolic events is much lower in children than adults.