Laboratory evaluation of a new integrative assay to phenotype plasma fibrinolytic system

Bareille, Marion; Hardy, Michaël; Châtelain, Bernard; Lecompte, T.; Mullier, François

doi:10.1186/s12959-022-00435-6

Cited by 2 publications

(1 citation statement)

References 46 publications

(68 reference statements)

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“…92 Overall, the frequency of fibrinolytic alterations and their clinical relevance in BDUC remains unclear due to the diagnostic challenges in assessing fibrinolysis in vitro. Novel promising assays for measuring fibrinolysis in bleeding patients have been proposed, but need to be validated in independent cohorts, 93,94 before they can be recommended for routine use.…”

Section: Other Rare Bleeding Disordersmentioning

confidence: 99%

Bleeding Disorder of Unknown Cause: A Diagnosis of Exclusion

Mehic,

Gebhart,

Pabinger

2024

Hamostaseologie

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Patients with an unexplained mild to moderate bleeding tendency are diagnosed with bleeding disorder of unknown cause (BDUC), a classification reached after ruling out other mild to moderate bleeding disorders (MBD) including von Willebrand disease (VWD), platelet function defects (PFDs), coagulation factor deficiencies (CFDs), and non-hemostatic causes for bleeding. This review outlines our diagnostic approach to BDUC, a diagnosis of exclusion, drawing on current guidelines and insights from the Vienna Bleeding Biobank (VIBB). According to guidelines, we diagnose VWD based on VWF antigen and/or activity levels ≤50 IU/dL, with repeated VWF testing if VWF levels are <80 IU/dL. This has been introduced in our clinical routine after our findings of diagnostically relevant fluctuations of VWF levels in a high proportion of MBD patients. PFDs are identified through repeated abnormalities in light transmission aggregometry (LTA), flow cytometric mepacrine fluorescence, and glycoprotein expression analysis. Nevertheless, we experience diagnostic challenges with regard to reproducibility and unspecific alterations of LTA. For factor (F) VIII and FIX deficiency, a cutoff of 50% is utilized to ensure detection of mild hemophilia A or B. We apply established cutoffs for other rare CFD being aware that these do not clearly reflect the causal role of the bleeding tendency. Investigations into very rare bleeding disorders due to hyperfibrinolysis or increase in natural anticoagulants are limited to cases with a notable family history or distinct bleeding phenotypes considering cost-effectiveness. While the pathogenesis of BDUC remains unknown, further explorations of this intriguing area may reveal new mechanisms and therapeutic targets.

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Section: Other Rare Bleeding Disordersmentioning

confidence: 99%