Englisch Cornelia, Vostatek Rafaela, Schramm Theresa, Binder Christoph J, Pabinger Ingrid, Jäger Roland, Ay Cihan
Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
Br J Haematol. 2025 Jan;206(1):263-271. doi: 10.1111/bjh.19871. Epub 2024 Nov 5.
Venous thromboembolism (VTE) is the third most common cardiovascular disease. Clonal haematopoiesis (CH) is linked to cardiovascular disease risk, but its potential association with VTE remains poorly understood. We assessed the prevalence of CH in patients with recurrent VTE (n = 107; median age [IQR] 57 [48-63] years, 44.9% female) and matched healthy controls (n = 127; median age [IQR] 53 [45-60] years, 51.2% female) to investigate a putative association of CH with VTE risk. We detected 12 CH-associated mutations in 11 (10.3%) VTE cases and six mutations in 5 (3.9%) controls. Thus, patients with recurrent VTE tended to have higher odds of presenting with CH compared to controls (OR: 2.74, 95% CI: 0.95-9.16). Moreover, the odds of detecting CH were significantly higher in VTE cases in the subgroup of individuals without thrombophilia (OR: 4.58, 95% CI: 1.48-15.99). VTE cases with CH showed elevated platelet counts compared to cases and controls without CH (median [IQR]: 292 [254-298], 223 [198-260] and 220 [185-259] × 10/L; both p < 0.01). Fibrinogen, sP-selectin, D-dimer and hsCRP levels did not differ according to CH status. Overall, we identified a trend for an association between CH and recurrent VTE, particularly in individuals without underlying thrombophilia, warranting further research in this patient group.
静脉血栓栓塞症（VTE）是第三常见的心血管疾病。克隆性造血（CH）与心血管疾病风险相关，但其与VTE的潜在关联仍知之甚少。我们评估了复发性VTE患者（n = 107；中位年龄[四分位间距]57[48 - 63]岁，女性占44.9%）和匹配的健康对照者（n = 127；中位年龄[四分位间距]53[45 - 60]岁，女性占51.2%）中CH的患病率，以研究CH与VTE风险之间的假定关联。我们在11例（10.3%）VTE病例中检测到12个与CH相关的突变，在5例（3.9%）对照者中检测到6个突变。因此，与对照者相比，复发性VTE患者出现CH的几率更高（比值比：2.74，95%置信区间：0.95 - 9.16）。此外，在无血栓形成倾向的个体亚组中，VTE病例中检测到CH的几率显著更高（比值比：4.58，95%置信区间：1.48 - 15.99）。与无CH的病例和对照者相比，有CH的VTE病例血小板计数升高（中位数[四分位间距]：292[254 - 298]、223[198 - 260]和220[185 - 259]×10⁹/L；p均<0.01）。纤维蛋白原、可溶性P选择素、D - 二聚体和高敏C反应蛋白水平根据CH状态无差异。总体而言，我们发现CH与复发性VTE之间存在关联趋势，尤其是在无潜在血栓形成倾向的个体中，这值得在该患者群体中进一步研究。
