Investigating patients for bleeding disorders when most of the "usual" ones have been ruled out

Res Pract Thromb Haemost. 2023 Oct 30;7(8):102242. doi: 10.1016/j.rpth.2023.102242. eCollection 2023 Nov.ABSTRACTA State of the Art lecture titled "Investigating Patients for Bleeding Disorders When Most of the Usual Ones Have Been Ruled Out" was presented at the International Society on Thrombosis and Haemostasis Congress in 2023. Mild to moderate bleeding disorders (MBDs) in patients in whom no diagnosis of an established disorder, such as platelet function defect, von Willebrand disease, or a coagulation factor deficiency, can be identified are classified as bleeding disorders of unknown cause (BDUCs). Prospective data from the Vienna Bleeding Biobank and other studies have revealed a high proportion of BDUCs of up to 70% among patients with MBD who have a similar bleeding phenotype as other MBDs. As BDUC is a diagnosis of exclusion, the accuracy of the diagnostic workup is essential. For example, repeated testing for von Willebrand disease should be considered if von Willebrand factor values are <80 IU/dL. Current evidence does not support the clinical use of global assays such as thromboelastography, platelet function analyzer, or thrombin generation potential. Rare and novel bleeding disorders due to genetic variants in fibrinolytic factors or natural anticoagulants are rare and should only be analyzed in patients with specific phenotypes and a clear family history. In BDUC, blood group O was identified as a risk factor for increased bleeding severity and bleeding ri...
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Source Type: research