Department of Medicine I, Clinical Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.
Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria.
Haemophilia. 2018 May;24(3):405-413. doi: 10.1111/hae.13422. Epub 2018 Feb 1.
Data on clinical characteristics and the prevalence of underlying coagulopathies in patients with mild-to-moderate bleeding disorders (MBDs) are scarce.
We established the Vienna Bleeding Biobank (VIBB) to characterize and thoroughly investigate Austrian patients with MBDs.
Four hundred eighteen patients (female = 345, 82.5%) were included. A platelet function defect (PFD) was diagnosed in 26 (6.2%) and a possible PFD in 30 (7.2%) patients. Eight patients (1.9%) were diagnosed with von Willebrand disease (VWD) (type 1 n = 6; type 2 n = 2), and 29 patients had low VWF (30-50 IU/dL). Deficiencies in factor VIII, IX, XI or XIII were found in 11 (2.6%), 3 (0.7%), 3 (0.7%) and 1 patient(s), 2 patients had dysfibrinogenaemia, and further 2 had possible PFD and FXI deficiency. Probable causal mutations were detected in 8 of 11 patients with FVIII deficiency, 2 of 3 patients with FIX deficiency and 2 of 8 patients with VWD. Three hundred three patients (72.5%) had normal results in the coagulation assays and were categorized as patients with bleeding of unknown cause (BUC). The bleeding score did not differ between patients with and without established diagnosis. A diagnosis of a bleeding disorder was more frequently made in men than in women (49.3% vs 22.9%). Male sex (OR 3.55, 95% CI: 2.02-6.22; P < .001) and blood group 0 (OR 1.86, 95% CI: 1.17-2.94; P = .008) were independently associated with diagnosis of a bleeding disorder.
The high rate of patients with BUC despite in-depth haemostatic assessment underlines the incompleteness of available routine laboratory tests. Males with MBDs were more likely to be diagnosed with an established bleeding disorder than females.
关于患有轻度至中度出血性疾病（MBD）的患者的临床特征和潜在凝血异常的患病率数据很少。
我们建立了维也纳出血生物库（VIBB），以对奥地利 MBD 患者进行特征描述和深入研究。
共纳入 418 例患者（女性=345，82.5%）。诊断出血小板功能缺陷（PFD）26 例（6.2%），可能存在 PFD 30 例（7.2%）。8 例（1.9%）患者被诊断为血管性血友病（VWD）（1 型 n=6；2 型 n=2），29 例患者的 VWF 水平较低（30-50IU/dL）。VIII、IX、XI 或 XIII 因子缺乏分别见于 11 例（2.6%）、3 例（0.7%）、3 例（0.7%）和 1 例患者，2 例患者存在纤维蛋白原血症，另外 2 例患者可能存在 PFD 和 FXI 缺乏。在 11 例VIII 因子缺乏症患者中有 8 例检测到可能的致病突变，3 例FIX 缺乏症患者中有 2 例，8 例 VWD 患者中有 2 例。303 例（72.5%）患者的凝血检测结果正常，被归类为出血原因不明的患者（BUC）。有明确诊断的患者与无明确诊断的患者的出血评分无差异。与女性相比，男性更常被诊断为出血性疾病（49.3%比 22.9%）。男性（比值比 3.55，95%置信区间：2.02-6.22；P<0.001）和血型 0（比值比 1.86，95%置信区间：1.17-2.94；P=0.008）与出血性疾病的诊断独立相关。
尽管进行了深入的止血评估，但仍有大量的 BUC 患者，这突出了现有常规实验室检测的不完整性。与女性相比，患有 MBD 的男性更有可能被诊断为明确的出血性疾病。
