J Gebhart1, S Hofer1, S Panzer2, P Quehenberger3, R Sunder-Plassmann3, G Hoermann3, E Eigenbauer4, H Haslacher3, S Kepa1, P A Kyrle1, S Eichinger1, P Knöbl1, L Eischer1, C Mannhalter3, C Ay1, I Pabinger1. 1. Department of Medicine I, Clinical Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria. 2. Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria. 3. Department of Laboratory Medicine, Division of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Vienna, Austria. 4. IT-Systems and Communications, Medical University of Vienna, Vienna, Austria.
Abstract
INTRODUCTION: Data on clinical characteristics and the prevalence of underlying coagulopathies in patients with mild-to-moderate bleeding disorders (MBDs) are scarce. AIM: We established the Vienna Bleeding Biobank (VIBB) to characterize and thoroughly investigate Austrian patients with MBDs. RESULTS: Four hundred eighteen patients (female = 345, 82.5%) were included. A platelet function defect (PFD) was diagnosed in 26 (6.2%) and a possible PFD in 30 (7.2%) patients. Eight patients (1.9%) were diagnosed with von Willebrand disease (VWD) (type 1 n = 6; type 2 n = 2), and 29 patients had low VWF (30-50 IU/dL). Deficiencies in factor VIII, IX, XI or XIII were found in 11 (2.6%), 3 (0.7%), 3 (0.7%) and 1 patient(s), 2 patients had dysfibrinogenaemia, and further 2 had possible PFD and FXI deficiency. Probable causal mutations were detected in 8 of 11 patients with FVIII deficiency, 2 of 3 patients with FIX deficiency and 2 of 8 patients with VWD. Three hundred three patients (72.5%) had normal results in the coagulation assays and were categorized as patients with bleeding of unknown cause (BUC). The bleeding score did not differ between patients with and without established diagnosis. A diagnosis of a bleeding disorder was more frequently made in men than in women (49.3% vs 22.9%). Male sex (OR 3.55, 95% CI: 2.02-6.22; P < .001) and blood group 0 (OR 1.86, 95% CI: 1.17-2.94; P = .008) were independently associated with diagnosis of a bleeding disorder. CONCLUSION: The high rate of patients with BUC despite in-depth haemostatic assessment underlines the incompleteness of available routine laboratory tests. Males with MBDs were more likely to be diagnosed with an established bleeding disorder than females.
INTRODUCTION: Data on clinical characteristics and the prevalence of underlying coagulopathies in patients with mild-to-moderate bleeding disorders (MBDs) are scarce. AIM: We established the Vienna Bleeding Biobank (VIBB) to characterize and thoroughly investigate Austrian patients with MBDs. RESULTS: Four hundred eighteen patients (female = 345, 82.5%) were included. A platelet function defect (PFD) was diagnosed in 26 (6.2%) and a possible PFD in 30 (7.2%) patients. Eight patients (1.9%) were diagnosed with von Willebrand disease (VWD) (type 1 n = 6; type 2 n = 2), and 29 patients had low VWF (30-50 IU/dL). Deficiencies in factor VIII, IX, XI or XIII were found in 11 (2.6%), 3 (0.7%), 3 (0.7%) and 1 patient(s), 2 patients had dysfibrinogenaemia, and further 2 had possible PFD and FXI deficiency. Probable causal mutations were detected in 8 of 11 patients with FVIII deficiency, 2 of 3 patients with FIX deficiency and 2 of 8 patients with VWD. Three hundred three patients (72.5%) had normal results in the coagulation assays and were categorized as patients with bleeding of unknown cause (BUC). The bleeding score did not differ between patients with and without established diagnosis. A diagnosis of a bleeding disorder was more frequently made in men than in women (49.3% vs 22.9%). Male sex (OR 3.55, 95% CI: 2.02-6.22; P < .001) and blood group 0 (OR 1.86, 95% CI: 1.17-2.94; P = .008) were independently associated with diagnosis of a bleeding disorder. CONCLUSION: The high rate of patients with BUC despite in-depth haemostatic assessment underlines the incompleteness of available routine laboratory tests. Males with MBDs were more likely to be diagnosed with an established bleeding disorder than females.
Keywords:
bleeding of unknown cause; bleeding tendency; low von Willebrand factor; mild bleeding disorders; platelet function defect; von Willebrand disease
Authors: Kate Downes; Karyn Megy; Daniel Duarte; Minka Vries; Johanna Gebhart; Stefanie Hofer; Olga Shamardina; Sri V V Deevi; Jonathan Stephens; Rutendo Mapeta; Salih Tuna; Namir Al Hasso; Martin W Besser; Nichola Cooper; Louise Daugherty; Nick Gleadall; Daniel Greene; Matthias Haimel; Howard Martin; Sofia Papadia; Shoshana Revel-Vilk; Suthesh Sivapalaratnam; Emily Symington; Will Thomas; Chantal Thys; Alexander Tolios; Christopher J Penkett; Willem H Ouwehand; Stephen Abbs; Michael A Laffan; Ernest Turro; Ilenia Simeoni; Andrew D Mumford; Yvonne M C Henskens; Ingrid Pabinger; Keith Gomez; Kathleen Freson Journal: Blood Date: 2019-12-05 Impact factor: 22.113
Authors: Dino Mehic; Alexander Tolios; Stefanie Hofer; Cihan Ay; Helmuth Haslacher; Judit Rejtö; Willem H Ouwehand; Kate Downes; Matthias Haimel; Ingrid Pabinger; Johanna Gebhart Journal: Blood Adv Date: 2021-01-26
Authors: Lars L F G Valke; Danielle Meijer; Laurens Nieuwenhuizen; Britta A P Laros-van Gorkom; Nicole M A Blijlevens; Waander L van Heerde; Saskia E M Schols Journal: Res Pract Thromb Haemost Date: 2022-03-15
Authors: Suzanne A M Zegers; Yolba Smit; Joline L Saes; Clint van Duren; Tim J Schuijt; Waander L van Heerde; Saskia E M Schols Journal: Haemophilia Date: 2019-12-30 Impact factor: 4.287
Authors: Francesco Rodeghiero; Ingrid Pabinger; Margaret Ragni; Rezan Abdul-Kadir; Erik Berntorp; Victor Blanchette; Imre Bodó; Alessandro Casini; Paolo Gresele; Riitta Lassila; Frank Leebeek; David Lillicrap; Diego Mezzano; Patrizia Noris; Alok Srivastava; Alberto Tosetto; Jerzy Windyga; Barbara Zieger; Mike Makris; Nigel Key Journal: Hemasphere Date: 2019-09-17