Recurrent deep vein thrombosis with a protein S Tokushima mutation

Deep vein thrombosis (DVT) is multifactorial disease caused by acquired risk factors such as bed rest, surgery and malignancies as well as genetic factors. Regarding the genetic factors, factor V Leiden (c.1601G>A, p.R534Q) and the prothrombin G20210A mutations are well-known risk factors for DVT in Caucasians.¹ However, these two mutations do not exist in Japanese populations. A missense mutation (c.586A>G, p. K196E) in protein S gene, known as the protein S (PS) Tokushima mutation, was identified as a genetic risk factor for DVT in Japanese populations.² We herein report a young Japanese patient with recurrent DVT in whom a PS Tokushima mutation was detected.

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