Abstract

Varicose veins (VVs) have a high prevalence worldwide and have become a major medical burden. Their pathophysiology involves a complex interplay of inflammation and tissue remodeling, and current treatment is limited by its impact on the pathophysiological mechanisms. In addition, despite clear environmental factors, family history is an important risk factor, suggesting a genetic component to the risk of developing VVs. Our understanding of the pathogenesis of these diseases has benefited greatly from the expansion of population genetic studies, from pioneering family studies to large genome-wide association studies; we now find multiple risk loci for each venous disease. This review considers the pathophysiology of VVs, highlighting the current state of genetic knowledge. We also propose future directions for research.

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