Does the VWF:CB Assay Help to Diagnose von Willebrand Factor Deficiency in Patients With a Bleeding Disorder of Unknown Cause?
BDUC
VWF:CB assay
von Willebrand disease
Journal
International journal of laboratory hematology
ISSN: 1751-553X
Titre abrégé: Int J Lab Hematol
Pays: England
ID NLM: 101300213
Informations de publication
Date de publication:
20 Sep 2024
20 Sep 2024
Historique:
revised:
25
08
2024
received:
27
04
2024
accepted:
01
09
2024
medline:
20
9
2024
pubmed:
20
9
2024
entrez:
20
9
2024
Statut:
aheadofprint
Résumé
The entity entitled bleeding disorder of unknown cause (BDUC) qualifies individuals displaying a mild haemorrhagic profile but normal routine coagulation tests. This study was designed to evaluate whether collagen-binding assay for von Willebrand Factor (VWF) measurement (VWF:CB) could allow to diagnose VW disease in such patients. A large screening was conducted prospectively in two University Hospitals, using the bleeding assessment tool (BAT) recommended by the International Society of Thrombosis and Hemostasis. Patients with an abnormal BAT were confirmed to have a normal complete hemostatic evaluation. A large range of VWF assays was then carried out on a new blood sample for the 68 individuals (91% women) thus identified. Of note, five VWF:CB using different types of collagen were performed, as well as a comprehensive sequencing of the VWF gene. Of this cohort, only 3 individuals (all blood group O), had a VWF:CB between 40 and 50 IU/dL. No unknown anomaly of the VWF gene was disclosed. Of note, 54% of these patients had unexplained abnormal occlusion times on PFA-200. This study identified 68 cases of BDUC, after screening of a large population, indicating a low incidence. Only 3 cases were potentially confirmed as displaying moderate von Willebrand disease. VWF:CB tests were globally normal in the 65 other patients of the cohort. ClinicalTrials.gov identifier: NCT0279220.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : French ministry of Health
ID : PHRC-15-413 PERICOLL
Informations de copyright
© 2024 John Wiley & Sons Ltd.
Références
P. D. James, N. T. Connell, B. Ameer, et al., “ASH ISTH NHF WFH 2021 Guidelines on the Diagnosis of von Willebrand Disease,” Blood Advances 5, no. 1 (2021): 280–300.
R. I. Baker and J. S. O'Donnell, “How I Treat Bleeding Disorder of Unknown Cause,” Blood 138, no. 19 (2021): 1795–1804.
W. Thomas, K. Downes, and M. J. R. Desborough, “Bleeding of Unknown Cause and Unclassified Bleeding Disorders; Diagnosis, Pathophysiology and Management,” Haemophilia 26, no. 6 (2020): 946–957.
R. I. Baker, P. Choi, N. Curry, et al., “Standardization of Definition and Management for Bleeding Disorder of Unknown Cause: Communication From the SSC of the ISTH,” Journal of Thrombosis and Haemostasis 22, no. 7 (2024): 2059–2070.
E. J. Favaloro, “Collagen Binding Assay for von Willebrand Factor (VWF:CBA): Detection of Von Willebrands Disease (VWD), and Discrimination of VWD Subtypes, Depends on Collagen Source,” Thrombosis and Haemostasis 83, no. 1 (2000): 127–135.
F. Rodeghiero, A. Tosetto, T. Abshire, et al., “ISTH/SSC Bleeding Assessment Tool: A Standardized Questionnaire and a Proposal for a New Bleeding Score for Inherited Bleeding Disorders,” Journal of Thrombosis and Haemostasis 8, no. 9 (2010): 2063–2065.
E. J. Favaloro, “Utility of the Von Willebrand Factor Collagen Binding Assay in the Diagnosis of von Willebrand Disease,” American Journal of Hematology 92, no. 1 (2017): 114–118.
V. H. Flood, J. M. Johnsen, C. Kochelek, et al., “Common VWF Sequence Variants Associated With Higher VWF and FVIII Are Less Frequent in Subjects Diagnosed With Type 1 VWD,” Research and Practice in Thrombosis and Haemostasis 2, no. 2 (2018): 390–398.
H. K. Lohmeier, T. L. Slobodianuk, S. Kanaji, S. L. Haberichter, R. R. Montgomery, and V. H. Flood, “von Willebrand Factor Variant D1472H Has no Effect in Mice With Humanized VWF‐Platelet Interactions,” Blood Advances 4, no. 17 (2020): 4065–4068.
V. H. Flood, K. D. Friedman, J. C. Gill, et al., “No Increase in Bleeding Identified in Type 1 VWD Subjects With D1472H Sequence Variation,” Blood 121, no. 18 (2013): 3742–3744.
L. Ardillon, C. Ternisien, M. Fouassier, et al., “Platelet Function Analyser (PFA‐100) Results and von Willebrand Factor Deficiency: A 16‐Year “Real‐World” Experience,” Haemophilia 21, no. 5 (2015): 646–652.
E. J. Favaloro, L. Pasalic, and G. Lippi, “Towards 50 Years of Platelet Function Analyser (PFA) Testing,” Clinical Chemistry and Laboratory Medicine (CCLM) 61, no. 5 (2023): 851–860.
F. Atiq, R. Blok, C. B. van Kwawegen, et al., “Type 1 VWD Classification Revisited: Novel Insights From Combined Analysis of the LoVIC and WiN Studies,” Blood 143, no. 14 (2024): 1414–1424.