Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
UOC Laboratory Medicine, Hematology and Laboratory Haemostasis and Special Investigations, AOU Federico II University of Naples, 80131 Naples, Italy.
Int J Mol Sci. 2023 Jul 31;24(15):12256. doi: 10.3390/ijms241512256.
Acute or intense exercise can result in metabolic imbalances, muscle injuries, or reveal hidden disorders. Laboratory medicine in sports is playing an increasingly crucial role in monitoring athletes' health conditions. In this study, we designed an integrated approach to explore the causes of a deep venous thrombosis event in an elite basketball player. Since the complete blood count revealed a marked platelet count (838 × 10 µL), and thrombophilia screening tests did not reveal any significant alteration, we evaluated the thrombin generation, which highlights a state of hypercoagulability. First-level haemostasis exams showed only a slight prolongation of the activated Partial Thromboplastin Time (aPTT). Thus, screening tests for von Willebrand Disease showed a reduction in vWF parameters. Therefore, we directed our hypothesis towards a diagnosis of acquired von Willebrand disease secondary to Essential Thrombocythemia (ET). To confirm this hypothesis and highlight the molecular mechanism underlying the observed phenotype, molecular tests were performed to evaluate the presence of the most common mutations associated with ET, revealing a 52-bp deletion in the coding region of exon 9. This case report highlights the importance of an integrated approach to monitoring the athletes' health status to personalise training and treatments, thus avoiding the appearance of diseases and injuries that, if underestimated, can undermine the athlete's life.
剧烈或高强度的运动会导致代谢失衡、肌肉损伤或暴露出潜在的疾病。运动医学在监测运动员的健康状况方面发挥着越来越重要的作用。在这项研究中，我们设计了一种综合方法来探讨一名精英篮球运动员深静脉血栓形成事件的原因。由于全血细胞计数显示血小板计数明显升高（838×10 µL），且血栓形成倾向筛查试验未显示任何明显改变，我们评估了凝血酶生成情况，这突出了一种高凝状态。一级止血检查仅显示活化部分凝血活酶时间（aPTT）略有延长。因此，血管性血友病筛选试验显示 vWF 参数减少。因此，我们将假设指向继发于特发性血小板增多症（ET）的获得性血管性血友病的诊断。为了证实这一假设并突出观察到的表型背后的分子机制，进行了分子检测以评估与 ET 相关的最常见突变的存在情况，结果显示 9 号外显子编码区存在 52 个碱基缺失。本病例报告强调了综合方法监测运动员健康状况以个性化训练和治疗的重要性，从而避免疾病和损伤的出现，如果低估这些疾病和损伤，可能会破坏运动员的生活。
