New Genetic Variants Increase Venous Blood Clot Risk by 180%

Recent genetic research conducted by Lund University in Sweden has unveiled three new gene variants that significantly elevate the risk of venous blood clots, with some individuals experiencing an increased risk of up to 180%. These findings expand upon the existing knowledge surrounding the well-known Factor V Leiden mutation, suggesting that genetics plays a larger role in the susceptibility to venous thromboembolism than previously recognized. This condition, often leading to life-threatening pulmonary embolisms, is a major health concern globally.

The study, published in the journal Research and Practice in Thrombosis and Haemostasis, draws from data collected from the population-based Malmö Diet and Cancer Study, involving 30,000 residents of Malmö. According to Dr. Bengt Zöller, a specialist in general medicine at Skåne University Hospital and professor at Lund University, these newly identified variants—ABO, F8, and VWF—each contribute to an increased risk of venous blood clots ranging from 10 to 30 percent. The cumulative effect of possessing multiple variants can heighten the risk substantially, as individuals with five of these mutations may face an increased risk of 180%.

Zöller noted that while Factor V Leiden is prevalent in approximately 10% of the Swedish population, the newly identified mutations are more widespread, occurring in between 5% to 50% of various populations worldwide. This diversity underscores the need for tailored risk assessments and personalized treatment strategies based on genetic predispositions.

Historically, venous thrombosis has been overshadowed by arterial blood clots, despite being a common cause of morbidity and mortality. In Sweden alone, approximately 10,000 cases of venous thromboembolism are reported annually, with the prevalence expected to rise as the population ages. Factors contributing to this increase include age, obesity, and lifestyle choices, particularly sedentary behavior, which impairs venous blood flow. As Zöller explained, taller individuals may be at greater risk because their larger veins may hinder blood circulation, resulting in increased clot formation.

The study not only highlights the genetic components of clot formation but also emphasizes lifestyle factors. For instance, obesity significantly affects venous circulation, and dietary choices may influence clot risk. Research indicates that a diet rich in ultra-processed foods may be linked to a higher risk, while a diet high in omega-3 fatty acids, commonly found in fish, could mitigate this risk.

The implications of this research are profound, particularly regarding public health strategies aimed at reducing the incidence of venous thromboembolism. Preventative measures could include promoting physical activity, raising awareness about the risks associated with prolonged periods of immobility, and considering prophylactic treatments in high-risk populations, such as those undergoing surgery or experiencing long-distance travel.

Furthermore, the research may lead to advancements in how healthcare providers approach anticoagulant therapy. Zöller posits that as understanding of genetic factors evolves, so too will the strategies for managing and treating patients at risk for blood clots. The potential for individualized treatment plans based on genetic risk profiles represents a significant step forward in personalized medicine.

In conclusion, the discovery of these new genetic variants provides critical insights into the etiology of venous thromboembolism and underscores the importance of a comprehensive approach to prevention and treatment. As further research unfolds, the medical community may be better equipped to address this pressing public health issue, ultimately aiming to reduce the burden of venous blood clots worldwide.