Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Department of Pathology and Laboratory Medicine, UNC Blood Research Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Blood Adv. 2024 Nov 12;8(21):5663-5673. doi: 10.1182/bloodadvances.2024012855.
Bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion after evaluation of plasma coagulation and platelet function. Patients with BDUC (n = 375) recorded in the Vienna Bleeding Biobank were analyzed in comparison with healthy controls (HCs; n = 100) in this case-control study. Plasmin generation (PG) parameters were analyzed using calibrated fluorescence detection in citrated plasma. Turbidimetric plasma clot formation/lysis of 293 (78%) patients with BDUC and confocal microscopy of clots from representative patients with BDUC (n = 6) and HCs (n = 9) were assessed. In the PG analysis, patients with BDUC exhibited lower velocity and peak plasmin levels but a higher endogenous plasmin potential than HCs. Peak plasmin levels correlated with maximum clot absorbance but not with clot lysis time. Clot absorbance is an indicator of clot fiber density. Confocal microscopy analysis revealed a tendency towards thicker fibers in clots of patients with BDUC, which negatively correlated with peak plasmin (r = -0.561; P = .030). Peak plasmin correlated weakly with factor XIII, but not with other fibrinolytic factors (alpha2-antiplasmin, thrombin activatable fibrinolysis inhibitor, or plasminogen activator inhibitor 1) or bleeding severity. A model comprising fibrinogen and parameters of PG yielded high predictive power in discriminating between patients with BDUC and HCs across a fivefold stratified cross validation (80% of data; mean area under the curve [AUC], 0.847). The model generalized well to unseen data (20% of data; AUC, 0.856). Overall, patients with BDUC counterintuitively exhibited reduced peak plasmin levels, potentially related to altered clot structure.
原因不明的出血性疾病 (BDUC) 是在评估血浆凝血和血小板功能后排除其他原因的诊断。在这项病例对照研究中,对维也纳出血生物库中记录的 375 例 BDUC 患者(n=375)与 100 例健康对照者(HCs;n=100)进行了分析。使用柠檬酸血浆中的校准荧光检测分析纤溶酶生成 (PG) 参数。评估了 293 例(78%)BDUC 患者的浊度血浆凝块形成/溶解和 6 例 BDUC 患者和 9 例 HCs 患者的代表性凝块的共聚焦显微镜。在 PG 分析中,BDUC 患者的速度和峰值纤溶酶水平较低,但内源性纤溶酶潜能较高。峰值纤溶酶水平与最大凝块吸光度相关,但与凝块溶解时间无关。凝块吸光度是凝块纤维密度的指标。共聚焦显微镜分析显示,BDUC 患者的凝块纤维较厚,呈负相关,与峰值纤溶酶呈负相关(r=-0.561;P=0.030)。峰值纤溶酶与因子 XIII 弱相关,但与其他纤维蛋白溶解因子(α2-抗纤溶酶、凝血酶激活的纤溶抑制物或纤溶酶原激活物抑制剂 1)或出血严重程度无关。包含纤维蛋白原和 PG 参数的模型在五倍分层交叉验证中具有较高的预测能力,可区分 BDUC 患者和 HCs(80%的数据;平均曲线下面积 [AUC],0.847)。该模型在未见数据(20%的数据;AUC,0.856)中概括良好。总体而言,BDUC 患者的峰值纤溶酶水平出人意料地降低,可能与改变的凝块结构有关。