Publications by authors named "Joline L Saes"
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.
Article Synopsis
- Heavy menstrual bleeding (HMB) is prevalent in 80% of Dutch women with rare bleeding disorders (RBDs), notably higher in those with fibrinolytic disorders (94%) compared to coagulation factor deficiencies (74%).
- The majority (82%) of women experiencing HMB required treatment, with hormonal therapies being the most common (88%), while antifibrinolytics were less frequently prescribed (25%).
- A significant diagnostic delay was noted for women with HMB symptoms, with a median diagnosis age of 28 years, highlighting the need for improved awareness and treatment strategies.
Background: Women with rare bleeding disorders (RBDs), including coagulation factor deficiencies and fibrinolytic disorders, may have a higher risk of postpartum hemorrhage (PPH). Information on this patient category is lacking in the existing PPH guidelines because data on PPH in patients with RBDs are scarce.
Objective: To describe the prevalence of PPH in women with an RBD and evaluate the use of peripartum hemostatic prophylaxis.
Background: Patients with rare inherited bleeding disorders (RBDs) exhibit hemorrhagic symptoms, varying in type and severity, often requiring only on-demand treatment. Prolonged bleeding after invasive procedures is common. Adequate peri-procedural therapy may reduce this bleeding risk.
View Article and Find Full Text PDFPatients with hereditary rare bleeding disorders (RBDs) present with diverse hemorrhagic symptoms. Correlation between factor activity levels and clinical bleeding severity is poor for most RBDs. Threshold factor activity levels have been previously described in relation to bleeding severity but have not yet been validated.
View Article and Find Full Text PDFCongenital afibrinogenemia is a rare autosomal recessive disorder associated with an increased risk of hemorrhage, thrombosis, and obstetric complications. This case series of 4 pregnancies in 2 related patients seeks to address the key clinical question of the necessary doses of fibrinogen concentrate during pregnancy and puerperium. One pregnancy without the prophylactic use of fibrinogen concentrate resulted in spontaneous abortion.
View Article and Find Full Text PDFIntroduction: 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.
Introduction: Deficiencies of plasminogen and plasminogen activator inhibitor type 1 (PAI-1) are rare disorders of fibrinolysis. Current laboratory assays for analysis of activity of plasminogen and PAI-1 do not provide an accurate correlation with clinical phenotype.
Methods: The Nijmegen Hemostasis Assay (NHA) was used to simultaneously measure thrombin and plasmin generation in 5 patients with plasminogen deficiency (PLGD) and 10 patients with complete PAI-1 deficiency.
Introduction: Bleeding assessment tools and laboratory phenotyping often remain inconclusive in patients with a haemorrhagic diathesis.
Aim: To describe the phenotype and genetic profile of patients with a bleeding tendency.
Methods: Whole exome sequencing (WES) was incorporated in the routine diagnostic pathway of patients with thrombocytopenia (n = 17), platelet function disorders (n = 19) and an unexplained bleeding tendency (n = 51).