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Hamostaseologie 2022; 42(06): 420-422
DOI: 10.1055/a-1946-6426
Perspective

The Diagnostic Approach to Inherited Mild (to Moderate) Bleeding Disorders: A Current Perspective

Rosa Toenges
1   Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, United States
2   Goethe University Frankfurt, University Hospital, Dept. of Medicine, Hematology and Oncology, Frankfurt am Main, Germany
,
Michael Steiner
3   Medizinisches Labor Rostock, Rostock, Germany
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We dance round in a ring and suppose, but the secret sits in the middle and knows.

Robert Frost



Publication History

Received: 01 September 2022

Accepted: 14 October 2022

Article published online:
22 December 2022

© 2022. Thieme. All rights reserved.

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  • References

  • 1 Neutze D, Roque J. Clinical evaluation of bleeding and bruising in primary care. Am Fam Physician 2016; 93 (04) 279-286
    PubMedGoogle Scholar
  • 2 Ballas M, Kraut EH. Bleeding and bruising: a diagnostic work-up. Am Fam Physician 2008; 77 (08) 1117-1124
    PubMedGoogle Scholar
  • 3 Rodeghiero F, Pabinger I, Ragni M. et al. Fundamentals for a systematic approach to mild and moderate inherited bleeding disorders: an EHA Consensus Report. HemaSphere 2019; 3 (04) e286
    PubMedGoogle Scholar
  • 4 Rodeghiero F, Tosetto A, Abshire T. et al; ISTH/SSC joint VWF and Perinatal/Pediatric Hemostasis Subcommittees Working Group. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010; 8 (09) 2063-2065
    Google Scholar
  • 5 James PD, Connell NT, Ameer B. et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv 2021; 5 (01) 280-300
    CrossrefPubMedGoogle Scholar
  • 6 Wagner M, Uzun G, Bakchoul T, Althaus K. Diagnosis of platelet function disorders: a challenge for laboratories. Hamostaseologie 2022; 42 (01) 36-45
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Mezzano D, Quiroga T. Diagnostic challenges of inherited mild bleeding disorders: a bait for poorly explored clinical and basic research. J Thromb Haemost 2019; 17 (02) 257-270
    CrossrefPubMedGoogle Scholar
  • 8 Downes K, Megy K, Duarte D. et al; NIHR BioResource. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood 2019; 134 (23) 2082-2091
    CrossrefPubMedGoogle Scholar
  • 9 Megy K, Downes K, Morel-Kopp MC. et al. GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. J Thromb Haemost 2021; 19 (10) 2612-2617
    CrossrefPubMedGoogle Scholar
  • 10 Valke LLFG, Meijer D, Nieuwenhuizen L. et al. Fibrinolytic assays in bleeding of unknown cause: improvement in diagnostic yield. Res Pract Thromb Haemost 2022; 6 (02) e12681
    CrossrefPubMedGoogle Scholar
  • 11 Hofer S, Ay C, Rejtö J. et al. Thrombin-generating potential, plasma clot formation, and clot lysis are impaired in patients with bleeding of unknown cause. J Thromb Haemost 2019; 17 (09) 1478-1488
    CrossrefPubMedGoogle Scholar