Publications by authors named "W van Heerde"
Background: α2-Antiplasmin (A2AP) deficiency is a rare and often unidentified disorder characterized by increased fibrinolysis and subsequent bleeding. Global hemostasis assays may increase insight into the altered coagulation and fibrinolysis in these patients.
Objectives: To explore thrombin and plasmin generation profiles in A2AP-deficient patients, corresponding A2AP activity levels and associated bleeding phenotypes.
Article Synopsis
- Type 2B Von Willebrand disease (VWD) is a bleeding disorder linked to specific genetic variations in the VWF gene, and the study aimed to explore how these genetic differences affect clinical symptoms over a 16-year period in a cohort of 64 patients.
- The research found that 67.2% of patients experienced thrombocytopenia (low platelet counts), which was most significantly associated with the p.Arg1306Trp genetic variant, showing considerably lower platelet counts compared to another variant, p.Arg1308Cys.
- Additionally, while some patient pregnancies led to decreased platelet counts, postpartum hemorrhages occurred despite preventative treatment, highlighting the complex relationship between genetic factors and bleeding events in affected individuals.
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.
Inherited disorders of primary hemostasis, such as von Willebrand disease and congenital platelet disorders, can cause extensive, typically mucocutaneous bleeding. Assays to diagnose and monitor these disorders, such as von Willebrand factor activity assays and light transmission aggregometry, are performed in specialized hemostasis laboratories but are commonly not available in local hospitals. Due to the complexity and relative scarcity of these conventional assays, point-of-care tests (POCT) might be an attractive alternative in patients with hereditary bleeding disorders.
View Article and Find Full Text PDFObjectives: Anti-factor VIII (FVIII) antibodies have been reported to exhibit both neutralizing and non-neutralizing characteristics. This is the first study investigating the full spectrum of FVIII-specific antibodies, including non-neutralizing antibodies, very-low titer inhibitors, and inhibitors, in a large nationwide population of persons with hemophilia A of all severities.
Methods: All persons with hemophilia A (mild (FVIII > 5-40 IU/dL)/moderate [FVIII 1-5 IU/dL)/severe (FVIII < 1 IU/dL)] with an available plasma sample who participated in the study between 2018 and 2019 were included.