Fearon Amber, Pearcy Paige, Venkataraman Subramanian, Shah Prabodh
Rosalind Franklin Chicago Medical School, 3333 Green Bay Rd., North Chicago, IL, USA.
Little Company of Mary Hospital, 2800 W. 95th St., Evergreen Park, IL, USA.
J Hematol. 2019 Mar;8(1):37-39. doi: 10.14740/jh478. Epub 2019 Mar 30.
Protein S (PS) deficiency is associated with a well documented risk of venous thromboembolism. However, the relation between PS deficiency itself to arterial thrombotic events (ATEs) is not clearly established. In our case, we report an ATE in a patient with a documented novel mutation and a family history of PS deficiency. Other etiologies for arterial thrombosis were excluded. The role of precise diagnosis with levels of PS and documentation for mutational analysis are discussed. We highlight the problems with diagnosis in previously reported cases with arterial thrombotic events and discuss the potential for treatment with antiplatelet therapy in a subset of patients with PS deficiency.
蛋白S（PS）缺乏与静脉血栓栓塞风险密切相关，这一点已有充分记录。然而，PS缺乏本身与动脉血栓形成事件（ATEs）之间的关系尚未明确确立。在我们的病例中，我们报告了一名患有已记录的新型突变且有PS缺乏家族史的患者发生了动脉血栓形成事件。排除了动脉血栓形成的其他病因。讨论了PS水平精确诊断及突变分析记录的作用。我们强调了先前报道的动脉血栓形成事件病例中的诊断问题，并讨论了在一部分PS缺乏患者中使用抗血小板治疗的可能性。
