Beyond the guidelines: how we approach challenging scenarios in the diagnosis and management of von Willebrand disease

Abou‐Ismail, Mouhamed Yazan; James, Paula D.; Flood, Veronica H.; Connell, Nathan T.

doi:10.1016/j.jtha.2022.11.042

Cited by 4 publications

(6 citation statements)

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“…23 The diagnosis of VWD can be complicated by factors leading to elevated VWF levels. 29 These confounding factors should be avoided during VWD investigations whenever possible or considered at interpretation of results. 21 High estrogen levels during pregnancy or hormonal contraceptives, and hormone replacement therapy, such as in the postmenopausal phase, are known to elevate VWF levels.…”

Section: Von Willebrand Diseasementioning

confidence: 99%

“…32 Physical activity, stress, or smoking can also elevate VWF levels, and these factors should also be considered in the diagnostic process. 29 Blood group O, on the other hand, is linked to reduced VWF levels both in healthy persons and patients with VWD type 1. 33,34 Our research has also unveiled a VWF-independent influence of blood group O on bleeding severity in patients with BDUC.…”

Section: Von Willebrand Diseasementioning

confidence: 99%

“…101 One limitation when performing laboratory investigations in MBDs is that many factors including exercise, caffeine, dark chocolate, tobacco, herbal supplements, and others can influence hemostasis. 29,[102][103][104] Our approach: Before investigating for a bleeding disorder, we exclude other underlying causes. Furthermore, we also always assess liver and kidney function to rule out liver and kidney failure as well as infection parameters (CRP and leucocyte count) to rule out an acute phase reaction when investigating for a bleeding disorder.…”

Section: Non-hemostatic Cause For Bleeding Disordersmentioning

confidence: 99%

“…32 Physical activity, stress, or smoking can also elevate VWF levels, and these factors should also be considered in the diagnostic process. 29…”

Section: Diagnostic Approach Within the Vibbmentioning

confidence: 99%

Section: Diagnostic Approach Within the Vibbmentioning

confidence: 99%

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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: Von Willebrand Diseasementioning

confidence: 99%