Diagnostic work up of patients with increased bleeding tendency

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.

A Morphometric Analysis of Platelet Dense Granules of Patients with Unexplained Bleeding: A New Entity of Delta-Microgranular Storage Pool Deficiency

“…In our experience, it is not infrequent to find that patients with a significant bleeding history may not be diagnosed with any particular disorder following platelet aggregation and release studies. Such patients are often labeled as being “VWD-like” and remain a diagnostic enigma presently labeled as “Bleeding of Unknown Cause” [ 58 , 59 , 60 , 61 ]. Further research is needed to determine whether the prevalence of δ-SPD and its microgranular variant (δ-MGSPD) is an even more common entity than VWD as a cause of unexplained mucocutaneous bleeding.…”

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

“…To avoid overdiagnosis and false-positive results, laboratory tests for diagnosing a PAI-1 deficiency or hyperfibrinolysis are performed only in case of an ISTH BAT score $10, a positive family history of a fibrinolysis disorder, or in patients with a typical fibrinolytic bleeding pattern (ie, delayed bleeding after interventions and/or co-occurrence with obstetric failure). 5,18 Patients with a PAI-1 deficiency were eligible for inclusion if the PAI-1 activity level was below the detection limit and the PAI-1 antigen level was below the lower limit of normal (reference range, 3.4-39 ng/mL). Patients with hyperfibrinolysis were eligible if the euglobulin clot lysis time ratio before and after application of a tourniquet was $5.8 (reference range, 1.2-5.7, locally validated assay).…”

Diagnostic work up of patients with increased bleeding tendency: Comment

“…Dear Editor, The paper by Zegers et al is of interest because practising haemostasis clinicians are challenged frequently by how to optimally investigate a bleeding tendency and because patients with bleeding of unknown cause (BUC), account for 47%-73% of patients with significant bleeding symptoms referred for assessment. [1][2][3] We welcome the proposal of a diagnostic strategy but would like to raise a number of points related to this.…”