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Clinical Trial
. 2020 Apr;42(2):116-125.
doi: 10.1111/ijlh.13124. Epub 2019 Nov 20.

Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment

Stephen MacDonald  1 , Alfie Wright  2 , Frederik Beuche  3 , Kate Downes  4   5   6 , Martin Besser  1 , Emily Symington  1 , Anne Kelly  1 , Will Thomas  1
Affiliations
Clinical Trial

Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment

Stephen MacDonald et al. Int J Lab Hematol. 2020 Apr.

Abstract

Introduction: There is an unmet need to characterize the diagnosis and management of patients with an unclassified bleeding disorder (UBD).

Methods: Retrospective review of registered patients with UBD at our centre. Assessment including rotational thromboelastometry (ROTEM) and thrombin generation (TG) were used.

Results: A total of 124 patients were identified; 91% female. Mean age of presentation was 38.3 years. Mean bleeding score was 8.8 (standard deviation [SD] 3.8); 6.6 in men (SD 1.4) and 9.7 in women (SD 3.3), which was significantly different (P < .05). In women, after deduction of scores for menorrhagia and postpartum haemorrhage, the mean score was 6.4 which was not significantly different to the male score (P = .11). Twenty-three percent of patients have been transfused, 61% women had treatment for menorrhagia and 17% for epistaxis. TxA and desmopressin were effective at preventing bleeding in 69 procedures and 13 deliveries. TG revealed 26% patients with a long lag time and 19% with a decreased endogenous thrombin potential but no diagnostic pattern was seen. ROTEM (NATEM) was unable to characterize patients; 9% had a prolonged clot time or maximum lysis. ThromboGenomics was normal in 45 tested patients.

Conclusions: We provide data which shows the bleeding score is biased towards gynaecological bleeding but which remains elevated even when the bleeding score is deducted. Tranexamic acid and desmopressin are effective as haemostatic prophylaxis but there is an urgent need for clinical trials. In conclusion, we describe the use of the bleeding score in these patients and phenotype, diagnosis (including ThromboGenomic testing) and management with practice recommendations.

Keywords: bleeding disorder; bleeding score; thrombin generation; unclassified bleeding disorders; viscoelastic methods.

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References

REFERENCES

    1. Mezzano D, Quiroga T. Diagnostic challenges of inherited mild bleeding disorders: a bait for poorly explored clinical and basic research. J Thromb Haemost. 2019;17:257-270.
    1. Quiroga T, Mezzano D. Is my patient a bleeder? A diagnostic framework for mild bleeding disorders. Hematology Am Soc Hematol Educ Program. 2012;2012:466-474.
    1. Gebhart J, Hofer S, Panzer S, et al. High proportion of patients with bleeding of unknown cause with a mild-to-moderate bleeding tendency: results from the Vienna Bleeding Biobank (VIBB). Haemophilia. 2018;24:405-413.
    1. Agren A, Wiman B, Stiller V, et al. Evaluation of low PAI-1 activity as a risk factor for hemorrhagic diathesis. J Thromb Haemost. 2016;4:201-208.
    1. Gupta PK, Charan VD, Saxena R. Spectrum of Von Willebrand disease and inherited platelet function disorders amongst Indian bleeders. Ann Hematol. 2007;86:403-407.

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