Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study.

Autor:	Saes JL; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen, Eindhoven, Maastricht, The Netherlands., Verhagen MJA; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen, Eindhoven, Maastricht, The Netherlands., Meijer K; Department of Hematology, University Medical Center Groningen, Groningen, The Netherlands., Cnossen MH; Department of Hematology, Erasmus Medical Center, Rotterdam, The Netherlands., Schutgens REG; Department of Hematology, van Creveldkliniek, University Medical Center Utrecht and University Utrecht, Utrecht, The Netherlands., Peters M; Pediatric-Hematology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Nieuwenhuizen L; Hemophilia Treatment Center Nijmegen, Eindhoven, Maastricht, The Netherlands.; Department of Hematology, Maxima Medical Center Eindhoven, Eindhoven, The Netherlands., van der Meer FJM; Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, The Netherlands., Kruis IC; Netherlands Hemophilia Society, Nijkerk, The Netherlands; and., van Heerde WL; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen, Eindhoven, Maastricht, The Netherlands.; Enzyre BV, Novio Tech Campus, Nijmegen, The Netherlands., Schols SEM; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen, Eindhoven, Maastricht, The Netherlands.
Jazyk:	angličtina
Zdroj:	Blood advances [Blood Adv] 2020 Oct 27; Vol. 4 (20), pp. 5025-5034.
DOI:	10.1182/bloodadvances.2020002740
Abstrakt:	Patients with hereditary rare bleeding disorders (RBDs) present with diverse hemorrhagic symptoms. Correlation between factor activity levels and clinical bleeding severity is poor for most RBDs. Threshold factor activity levels have been previously described in relation to bleeding severity but have not yet been validated. The Rare Bleeding Disorders in the Netherlands (RBiN) study is a nationwide cross-sectional study of patients registered in all 6 Dutch Haemophilia Treatment Centers with a known RBD and who are age 1 to 99 years. Bleeding scores were determined, and laboratory and clinical data were extracted from patient files. In all, 263 patients were included, of whom 202 (77%) attended the scheduled study visit. The median International Society of Thrombosis and Haemostasis (ISTH) bleeding assessment tool (BAT) score was 9. Correlations between baseline factor activity levels and ISTH BAT scores were strong for deficiencies in factor II (FII) (r = -0.792) and FX (r = -0.838) and were moderate for deficiencies of fibrinogen (r = -0.683), FV (r = -0.623), FVII (r = -0.516), FXIII (r = -0.516), and α2-antiplasmin (r = -0.594). There was no correlation for FXI deficiency (r = -0.218). The RBD BAT identified more women (94% vs 83%) and children (100% vs 71%) with an RBD than the ISTH BAT did. Importantly, 48% of patients had more severe bleeding than predicted for their baseline factor activity level. In addition, 34% of patients were predicted to be asymptomatic, but they actually had grade 2 (31%) or 3 (3%) bleeding. Bleeding severity in patients with RBDs is more pronounced than previously anticipated. The previously determined threshold factor activity levels to ensure no (spontaneous) bleeding in patients with an RBD are inaccurate. This trial was registered at www.clinicaltrials.gov as #NCT03347591. (© 2020 by The American Society of Hematology.)
Databáze:	MEDLINE
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