Health topic

Thrombophilia

Thrombophilia is a predisposition to develop blood clots

 

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 presentation.3

Vein Image

Image generated based on: Gale. A, Current Understanding of Hemostasis, Toxicologic Pathology 2010; 39(1), pp.273-280.

 

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

Acquired thrombophilia is a result of external factors such as immobilisation 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

References
 
  1. MacCallum P, Bowles L, Keeling, D. Diagnosis and management of heritable thrombophilias. BMJ. 2014;349:g4387.
  2. The Surgeon General’s Call to Action to Prevent Deep Vein Thrombosis and Pulmonary Embolism. Rockville (MD): Office of the Surgeon General (US); 2008.
  3. Heit J, Spencer F, White R. The epidemiology of venous thromboembolism. J Thromb Thrombolysis. 2016;41(1):3-14.
  4. Varga EA, Kujovich JL. Management of inherited thrombophilia: guide for genetics professionals. Clin Genet. 2012;81(1):7-17.
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