Mussert Caroline M A, Monard Amaury L L, van Duijl Tirsa T, Henskens Yvonne M C, van den Biggelaar Maartje, Schutgens Roger E G, Schols Saskia E M, Fijnvandraat Karin J, Meijer Karina, den Exter Paul L, Nieuwenhuizen Laurens, van Moort Iris, Kruip Marieke J H A, Cnossen Marjon H, Heubel-Moenen Floor C J I
Department of Pediatric Hematology and Oncology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Department of Hematology, Maastricht University Medical Center, Maastricht, the Netherlands.
Haemophilia. 2025 Jul;31(4):752-760. doi: 10.1111/hae.70065. Epub 2025 May 27.
About 40%-70% of persons with a clinically relevant bleeding tendency who are referred to haemostasis experts are classified as having a 'bleeding disorder of unknown cause' (BDUC) as no biological entity can be found after extensive laboratory testing. Currently, guidelines are under development regarding diagnostic assessment and management to minimize variation in clinical practice.
Investigate current practices regarding BDUC in the Netherlands.
An online survey on the best BDUC definition, associated bleeding phenotype, clinical and diagnostic approaches, treatment, registration, and follow-up was distributed amongst healthcare providers working in Dutch haemophilia treatment centres (HTCs).
The survey was completed by 39/54 (72%) respondents. Twenty percent did not register BDUC patients in their HTC. Healthcare professionals indicated that follow-up should depend on bleeding phenotype severity and bleeding history, and other potential causes for an increased bleeding tendency should be excluded. Moreover, the use of laboratory tests within the routine diagnostic pathway was demonstrated to be heterogeneous. Regarding treatment, tranexamic acid was most frequently prescribed for minor and major surgical interventions (79% and 86%), dental extractions (93%) and childbirth (93%). Desmopressin was prescribed for major surgical procedures by 79%.
Our survey shows that Dutch current practice varies but is generally in line with recent ISTH SSC recommendations. Additionally, it describes other clinically relevant topics not included in the international survey, such as follow-up and exclusion of other causes for bleeding. This survey therefore adds to international efforts to unify BDUC definition, diagnostic approach, treatment and follow-up, and to attain broadly supported guidelines.
在转介给止血专家的有临床相关出血倾向的患者中，约40%-70%被归类为患有“病因不明的出血性疾病”（BDUC），因为在广泛的实验室检测后未发现生物学实体。目前，关于诊断评估和管理的指南正在制定中，以尽量减少临床实践中的差异。
调查荷兰目前关于BDUC的实践情况。
在荷兰血友病治疗中心（HTC）工作的医疗服务提供者中开展了一项关于BDUC最佳定义、相关出血表型、临床和诊断方法、治疗、登记及随访的在线调查。
54名受访者中有39名（72%）完成了调查。20%的人在其HTC中未登记BDUC患者。医疗专业人员表示，随访应取决于出血表型严重程度和出血史，并且应排除其他导致出血倾向增加的潜在原因。此外，常规诊断途径中实验室检测的使用存在异质性。关于治疗，氨甲环酸最常用于 minor和major手术干预（79%和86%）、拔牙（93%）和分娩（93%）。79%的人在major手术中使用去氨加压素。
我们的调查表明，荷兰目前的实践存在差异，但总体上符合最近国际血栓与止血学会（ISTH）科学标准化委员会（SSC）的建议。此外，它描述了国际调查中未包括的其他临床相关主题，如随访和排除其他出血原因。因此，这项调查有助于国际上统一BDUC定义、诊断方法、治疗和随访，并获得广泛支持的指南。
