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Poster Networking

Inherited Bleeding Disorders and Inhibitors

PB0285 - Diagnosing and treating Bleeding Disorder of Unknown Cause: an illustrated review on current practice and future directions

Sunday, June 23, 2024
13:45 – 14:45 ICT
Room: Exhibition Hall

    Presenting Author(s)

  • Amaury Monard

    PhD candidate
    Internal Medicine, Maastricht University Medical Center +, Maastricht, the Netherlands
    Maastricht, Limburg, Netherlands

    • Co-Author(s)

  • Caroline Mussert, MD

    PhD candidate
    Department of hematology – pediatric hematology, Erasmus Medical Center Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands
    Rotterdam, Zuid-Holland, Netherlands

  • MK

    Marieke J.H.A. Kruip

    Hematologist
    Department of Hematology, Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, the Netherlands
    Rotterdam, Zuid-Holland, Netherlands

  • Yvonne Henskens

    Professor of the department of clinical chemistry
    MUMC+
    maastricht, Limburg, Netherlands

  • Mv

    Maartje van den biggelaar

    Principal investigator
    Molecular Hematology, Sanquin Research, Amsterdam, The Netherlands
    Amsterdam, Noord-Holland, Netherlands

  • T. T. van Duijl, T.T.

    Post-doctoral researcher
    Molecular Hematology, Sanquin Research, Asterdam, The Netherlands
    Amsterdam, Noord-Holland, Netherlands

  • Roger E.G. Schutgens

    Internist-hematologist
    Department of Benign Hematology, van Creveldkliniek, University Medical Center Utrecht and University Utrecht, Utrecht, the Netherlands
    Utrecht, Utrecht, Netherlands

  • SS

    Saskia E.M. Schols

    Internist-hematologist
    Department of Hematology, Radboud university medical center, Nijmegen, The Netherlands
    Nijmegen, Gelderland, Netherlands

  • KF

    Karin Fijnvandraat

    Professor
    Emma Kinderziekenhuis/AMC, University of Amsterdam, Netherlands
    Amsterdam, Noord-Holland, Netherlands

  • Karina Meijer

    MD, PhD, professor
    Department of Hematology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Groningen, Groningen, Netherlands

  • Pd

    Paul L. den Exter

    Hematologist
    Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands
    Leiden, Zuid-Holland, Netherlands

  • LN

    Laurens Nieuwenhuizen

    MD
    Department of Hematology, Maxima Medisch Centrum, Eindhoven, The Netherlands
    Eindhoven, Noord-Brabant, Netherlands

  • Iris van Moort

    Postdoctoral researcher
    Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Rotterdam, Zuid-Holland, Netherlands

  • Ross Baker, MB BS BMedSc FRACP, FRCPA

    Professor
    Western Australia Centre for Thrombosis and Haemostasis, Perth Blood Institute, Murdoch University, Perth, Australia
    Perth, Western Australia, Australia

  • JO

    James S. O'Donnell

    Professor of Vascular Biology
    Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
    Dublin, Dublin, Ireland

  • MC

    Marjon H. Cnossen

    MD, PhD, professor
    Department of Pediatric Hematology and Oncology, Erasmus MC Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
    Rotterdam, Zuid-Holland, Netherlands

  • Floor Heubel-Moenen

    MD, PhD
    Department of Hematology, Maastricht University Medical Center, Maastricht, The Netherlands
    Maastricht, Limburg, Netherlands

Background: More than half of the persons with a clinically relevant bleeding tendency are classified as having a ‘bleeding disorder of unknown cause’ (BDUC) after extensive laboratory testing. Currently, clinical management is unclear and heterogeneous due to the lack of knowledge on the underlying pathophysiology. Moreover, patients experience insecurity and anxiety causing loss of quality of life.

Aims: We aimed to attractively summarize current knowledge and clinical practice regarding BDUC, to identify knowledge gaps and drawbacks, and to highlight future directions for research.

Methods: An integrative literature search was performed in databases PubMed and Google Scholar. Reference lists from relevant articles were checked for additional BDUC articles. Article types included systematic reviews, original studies and consensus reports. Eligible publications were selected focusing on the topics: BDUC definition, patient characteristics, bleeding phenotype, diagnostic process, laboratory tests, experimental research and genetic tests, quality of life, treatment and follow-up.

Results: 22 articles were included in this review, including four review articles, one EHA consensus report and 17 original studies. Various knowledge gaps regarding BDUC were identified. Currently used BDUC definitions and performed laboratory hemostasis tests to rule out well-known causes for a bleeding tendency were heterogeneous. Multiple different diagnostic approaches are proposed in literature. Furthermore, research on the diagnostic value of new laboratory tests has been performed but has not resulted in recommendations. To date, clear guidelines for treatment and follow-up are lacking, complicating clinical management for patients and physicians.

Conclusion(s): This review outlines the current literature and knowledge gaps regarding BDUC. This overview is the basis for establishing both retrospective and prospective clinical, diagnostic and fundamental BDUC studies in the Netherlands by the multicenter BDUC in the Netherlands (BDUC-iN) study group. BDUC-iN aims to achieve consensus on the definition of BDUC, to improve clinical management and to unravel underlying mechanisms that cause and/or influence the bleeding tendency.