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2. High prevalence of heavy menstrual bleeding in women with rare bleeding disorders in the Netherlands: retrospective data from the RBiN study

Author

Maas, D.P.M.S.M., Saes, J.L., Meijer, K., Cnossen, M.H., Schutgens, R.E.G., Peters, M., Nieuwenhuizen, L., den Exter, P.L., Kruis, I.C., van Heerde, W.L., Schols, S.E.M., Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H., den Exter, Paul L., van der Heijden, Olivier W.H., Kruis, Ilmar C., Meijer, Karina, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., Nieuwenhuizen, Laurens, and Schols, Saskia E.M.

Published
2023
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3. High prevalence of postpartum hemorrhage in women with rare bleeding disorders in the Netherlands: retrospective data from the RBiN study

Author

Maas, D.P.M.S.M., Saes, J.L., Meijer, K., Cnossen, M.H., Schutgens, R.E.G., Peters, M., Nieuwenhuizen, L., Exter, P.L. den, Kruis, I.C., van Heerde, W.L., Schols, S.E.M., Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H., den Exter, Paul L., van der Heijden, Olivier W.H., Kruis, Ilmar C., Meijer, Karina, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., Nieuwenhuizen, Laurens, and Schols, Saskia E.M.

Published
2023
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5. Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study

Author

Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Infection & Immunity, Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M., Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Infection & Immunity, Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., and Schols, Saskia E.M.

Published
2024

6. Targeted exome analysis in patients with rare bleeding disorders:data from the Rare Bleeding Disorders in the Netherlands study

Author

Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M., Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., and Schols, Saskia E.M.

Abstract

Background: Rare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict. Objectives: Describe underlying rare genetic variants in the Dutch RBD population and investigate the relationship between genotype, laboratory phenotype, and clinical phenotype. Methods: The Rare Bleeding Disorders in the Netherlands is a cross-sectional, nationwide study conducted between October 1, 2017, and November 30, 2019. Bleeding scores and blood samples were collected during a single study visit. Coagulation factor levels were measured centrally, and targeted exome analysis was performed on 156 genes involved in thrombosis and hemostasis. Pathogenicity was assigned according to the Association for Clinical Genetic Science guidelines. Results: Rare genetic variants specific to the diagnosed RBD were found in 132 of 156 patients (85%). Of the 214 rare genetic variants identified, 57% (n = 123) were clearly pathogenic, 19% (n = 40) were likely pathogenic, and 24% (n = 51) were variants of unknown significance. No explanatory genetic variants were found in patients with plasminogen activator inhibitor type 1 deficiency or hyperfibrinolysis. A correlation existed between factor activity levels and the presence of a genetic variant in the corresponding gene in patients with rare coagulation factor deficiencies and alpha-2-antiplasmin deficiency. Co-occurrence of multiple genetic variants was present in a quarter of patients, but effect on phenotype remains unclear. Conclusion: Targeted exome analysis may offer advantages over single-gene analysis, emphasized by a number of combined deficiencies in this study. Further studies are required to determine the role of co-occurring hemostasis gene variants on the bleeding phenotype in RBDs.

Published
2024

8. Treatment of patients with rare bleeding disorders in the Netherlands:Real-life data from the RBiN study

Author

Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H, den Exter, Paul L., Kruis, Ilmar C., Meijer, Karina, Nieuwenhuizen, Laurens, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., Schols, Saskia E.M., Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H, den Exter, Paul L., Kruis, Ilmar C., Meijer, Karina, Nieuwenhuizen, Laurens, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., and Schols, Saskia E.M.

Abstract

Background: Patients with rare inherited bleeding disorders (RBDs) exhibit hemorrhagic symptoms, varying in type and severity, often requiring only on-demand treatment. Prolonged bleeding after invasive procedures is common. Adequate peri-procedural therapy may reduce this bleeding risk. Objective: To describe general treatment plans of RBD patients and evaluate the use of peri-procedural hemostatic therapy. Methods: In the Rare Bleeding Disorders in the Netherlands (RBiN) study, RBD patients from all six Dutch Hemophilia Treatment Centers were included. General treatment plans were extracted from patient files. Patients with a dental or surgical procedure in their history were interviewed about use of peri-procedural treatment and bleeding complications. Results: Two-hundred sixty-three patients with a rare coagulation factor deficiency or fibrinolytic disorder were included. Eighty-four percent had a documented general treatment plan. General treatment plans of patients with the same RBD were heterogeneous, particularly in factor XI deficiency. Overall, 308 dental and 408 surgical procedures were reported. Bleeding occurred in 50% of dental and 53% of surgical procedures performed without hemostatic treatment and in 28% of dental and 19% of surgical procedures performed with hemostatic treatment. Not only patients with severe RBDs, but also patients with mild deficiencies, experienced increased bleeding without proper hemostatic treatment. Conclusion: Large heterogeneity in general treatment plans of RBD patients was found. Bleeding after invasive procedures was reported frequently, both before and after RBD diagnosis, irrespective of factor activity levels and particularly when peri-procedural treatment was omitted. Improved guidelines should include uniform recommendations for most appropriate hemostatic products per RBD and emphasize the relevance of individual bleeding history.

Published
2022

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

Author

Secretariaat Hematologie, Poli Van Creveldkliniek Medisch, TN groep Pasterkamp, Circulatory Health, Infection & Immunity, Saes, Joline L, Verhagen, Marieke J A, Meijer, Karina, Cnossen, Marjon H, Schutgens, Roger E G, Peters, Marjolein, Nieuwenhuizen, Laurens, van der Meer, Felix J M, Kruis, Ilmar C, van Heerde, Waander L, Schols, Saskia E M, Secretariaat Hematologie, Poli Van Creveldkliniek Medisch, TN groep Pasterkamp, Circulatory Health, Infection & Immunity, Saes, Joline L, Verhagen, Marieke J A, Meijer, Karina, Cnossen, Marjon H, Schutgens, Roger E G, Peters, Marjolein, Nieuwenhuizen, Laurens, van der Meer, Felix J M, Kruis, Ilmar C, van Heerde, Waander L, and Schols, Saskia E M

Published
2020

10. Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB

Author

Genetica Klinische Genetica, Child Health, Cancer, van Bergen, Maaike G J M, Saes, Joline L, Simons, Annet, Hebeda, Konnie M, Henskens, Yvonne M C, Barteling, Wideke, Huys, Erik, Laros-van Gorkom, Britta A P, Schols, Saskia E M, Preijers, Frank W, Jongmans, Marjolijn C J, Jansen, Joop H, van der Reijden, Bert A, Genetica Klinische Genetica, Child Health, Cancer, van Bergen, Maaike G J M, Saes, Joline L, Simons, Annet, Hebeda, Konnie M, Henskens, Yvonne M C, Barteling, Wideke, Huys, Erik, Laros-van Gorkom, Britta A P, Schols, Saskia E M, Preijers, Frank W, Jongmans, Marjolijn C J, Jansen, Joop H, and van der Reijden, Bert A

Published
2020

11. Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB

Author

Bergen, Maaike G.J.M., primary, Saes, Joline L., additional, Simons, Annet, additional, Hebeda, Konnie M., additional, Henskens, Yvonne M.C., additional, Barteling, Wideke, additional, Huys, Erik, additional, Laros‐van Gorkom, Britta A.P., additional, Schols, Saskia E.M., additional, Preijers, Frank W., additional, Jongmans, Marjolijn C.J., additional, Jansen, Joop H., additional, and Reijden, Bert A., additional

Published
2020
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13. Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis

Author

Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, Schols, Saskia E M, Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, and Schols, Saskia E M

Published
2019

14. Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis

Author

Genetica Klinische Genetica, Cancer, Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, Schols, Saskia E M, Genetica Klinische Genetica, Cancer, Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, and Schols, Saskia E M

Published
2019

16. Platelet CD34 Expression and a Congenital Collar Bone Malformation Associated with a Partial CBFB Deletion in a Case with a Bleeding Disorder

Author

van Bergen, Maaike G.J.M., primary, Saes, Joline L., additional, Simons, Annet, additional, Hebeda, Konnie M., additional, Henskens, Yvonne M.C., additional, Laros-vanGorkom, Britta A.P., additional, Schols, Saskia E.M., additional, Preijers, Frank W.M.B., additional, Jongmans, Marjolijn C., additional, Jansen, Joop H., additional, and Van der Reijden, Bert A., additional

Published
2019
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18. Diagnostic work up of patients with increased bleeding tendency.

Author

Zegers, Suzanne A. M., Smit, Yolba, Saes, Joline L., Duren, Clint, Schuijt, Tim J., Heerde, Waander L., and Schols, Saskia E. M.

Subjects
VON Willebrand factor
Abstract

Introduction: The diagnostic trajectory of patients with increased bleeding tendency can be very costly and time‐consuming. In addition, previous studies have shown that half of these patients remain without final diagnosis despite all efforts. Aim: This study aimed to improve insight into the current diagnostic process of these patients. Methods: A total of 117 adult patients, referred to an academic hospital because of being suspected to have an increased bleeding tendency, were included. Different parameters were compared between patients receiving final diagnosis, patients without final diagnosis but a high Tosetto bleeding assessment tool (BAT) score (classified as bleeding of unknown cause, or BUC) and a control group consisting of patients without final diagnosis and a low BAT score. Results: The BAT score was significantly higher in patients in the BUC group as compared to patients reaching final diagnosis (8.1 vs 4.9). Interestingly, the two subcategories most prevalently increased were surgery and post‐partum haemorrhage‐associated bleeding (surgery: 2.1 vs 1.1; post‐partum haemorrhage: 0.7 vs 0.0). Laboratory screening results were more often abnormal in patients reaching final diagnosis compared to patients remaining without diagnosis and a high BAT score (n = 32 (78%) vs n = 14 (46%), 95% CI 1.5‐12), especially concerning the PFA (=27 (66%) vs n = 10 (33%), 95% CI 1.4‐10) and von Willebrand factor activity levels (n = 11 (27%) vs n = 1 (3%), 95% CI 1.3‐91). Conclusion: Isolated high bleeding score on surgical or post‐partum bleeding correlates with a lower chance of receiving final diagnosis. Withholding extensive haemostatic testing should be considered. Better screening and confirmative haemostatic assays are still needed. [ABSTRACT FROM AUTHOR]

Published
2020
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20. Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

Author

Blijlevens, Nicole M. A., Smit, Yolba, Saes, Joline L., Schols, Saskia E. M., van Heerde, Waander L., Brons, Paul P., Simons, Annet, de Munnik, Sonja A., Jongmans, Marjolijn C., Nijziel, Marten R., and van der Reijden, Bert A.

Abstract

Introduction: Bleeding assessment tools and laboratory phenotyping often remain inconclusive in patients with a haemorrhagic diathesis. Aim: To describe the phenotype and genetic profile of patients with a bleeding tendency. Methods: Whole exome sequencing (WES) was incorporated in the routine diagnostic pathway of patients with thrombocytopenia (n = 17), platelet function disorders (n = 19) and an unexplained bleeding tendency (n = 51). The analysis of a panel of 126 OMIM (Online Mendelian Inheritance in Man) genes involved in thrombosis and haemostasis was conducted, and if negative, further exome‐wide analysis was performed if informed consent given. Results: Eighteen variants were detected in 15 patients from a total of 87 patients (17%). Causative variants were observed in MYH9 (two cases), SLFN14, P2RY12 and GP9. In addition, one case was considered solved due to combined carriership of F7 and F13A1 variants and one with combined carriership of F2, F8 and VWF, all variants related to secondary haemostasis protein aberrations. Two variants of uncertain significance (VUS) were found in two primary haemostasis genes: GFI1B and VWF. Eight patients were carriers of autosomal recessive disorders. Exome‐wide analysis was performed in 54 cases and identified three variants in candidate genes. Conclusion: Based on our findings, we conclude that performing WES at the end of the diagnostic trajectory can be of additive value to explain the complete bleeding phenotype in patients without a definite diagnosis after conventional laboratory tests. Discovery of combinations of (novel) genes that predispose to bleeding will increase the diagnostic yield in patients with an unexplained bleeding diathesis. [ABSTRACT FROM AUTHOR]

Published
2019
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