Familial Risk for Venous Thromboembolism

Genetic thrombophilia (GT) is associated with mutations in the genes for factor V (FV Leiden), prothrombin (G20210A), antithrombin, protein C, and protein S (AT/PC/PS). The most common clinical presentation of GT is venous thromboembolism (VTE). Whether family members of children with GT and VTE have excess risk for VTE is unknown.

Now, an international team of investigators has conducted a multicenter cohort study involving 533 first- and second-degree relatives of 206 children with GT and newly diagnosed VTE (13.3% of relatives were younger than 15 years) to determine whether GT in these family members was associated with risk for developing VTE. The researchers identified GT in the relatives by testing for mutations in the genes for FV Le…