A5052325418- Platelet Disorders and Treatments
- Hemophilia Treatment and Research
- Blood groups and transfusion
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Antiplatelet Therapy and Cardiovascular Diseases
- Blood Coagulation and Thrombosis Mechanisms
- Heparin-Induced Thrombocytopenia and Thrombosis
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Maternal and fetal healthcare
- Venous Thromboembolism Diagnosis and Management
- Blood properties and coagulation
- Uterine Myomas and Treatments
- Hemoglobinopathies and Related Disorders
- Autoimmune Bullous Skin Diseases
- Blood disorders and treatments
- Pregnancy and preeclampsia studies
- Multiple Myeloma Research and Treatments
- Peptidase Inhibition and Analysis
- Cardiac electrophysiology and arrhythmias
- Endometriosis Research and Treatment
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Inflammatory Biomarkers in Disease Prognosis
- Sexual function and dysfunction studies
- Pregnancy-related medical research
- Menstrual Health and Disorders
University Medical Center Utrecht
2016-2025
Utrecht University
2012-2025
Amsterdam University Medical Centers
2024
University of Amsterdam
2024
Emma Kinderziekenhuis
2024
University of Ottawa
2023
Heidelberg University
2012-2021
University Hospital Heidelberg
2012-2021
De Forensische Zorgspecialisten
2020
Science Research Laboratory
2016
Hemophilia A and B predominantly attracts clinical attention in males due to X-linked inheritance, introducing a bias toward female carriers be asymptomatic. This common misconception is contradicted by an increasing body of evidence with consistent reporting on increased bleeding tendency hemophilia (HCs), including those normal factor VIII/IX (FVIII/IX) levels. The term HC can hamper diagnosis, care, research. Therefore, new nomenclature has been defined based open iterative process...
Abstract Introduction Despite increasing awareness of issues faced by women and girls with inherited BDs (WGBD), standards care are lacking, disparities in diagnosis treatment for WGBD across Europe. We aimed to develop practical principles (PoC) promote standardization within European Haemophilia Treatment Comprehensive Care Centres (HTC/CCCs). Methods The co‐creation process, supported the Association Allied Disorders, consisted four multidisciplinary meetings health providers (HCPs)...
BackgroundIn recent years, more awareness is raised about sex-specific dilemmas in inherited bleeding disorders. However, no large studies have been performed to assess differences diagnosis, phenotype and management of men women with Therefore, we investigated sex a cohort well-defined patients autosomal disorders (von Willebrand disease (VWD), rare (RBDs) congenital platelet defects (CPDs)).MethodsWe included from three nationwide cross-sectional on VWD, RBDs CPDs the Netherlands,...
Some comorbidities, such as hypertension, are associated with higher von Willebrand factor (VWF) levels in the general population. No studies have been conducted to assess this association patients disease (VWD). Therefore, we studied type 1 (n = 333) and 2 203) VWD from 'WiN" study. VWF antigen (VWF:Ag) was hypertension [difference: 0·23 iu/ml, 95% confidence interval (CI): 0·11-0·35], diabetes mellitus (0·11 CI: -0·02 0·23), cancer (0·14 0·03-0·25) thyroid dysfunction 0·03-0·26) than...
Introduction Historically, issues faced by women with bleeding disorders (WBD) have been underestimated. While advances in genetic testing resulted improvements, significant challenges remain the initial recognition of abnormal and referral WBD. Methods The European Haemophilia Consortium (EHC) developed a questionnaire for WBD to provide insights into barriers Europe. Results In total, 709 responded survey from 32 countries, predominantly western countries (94%). A delay ascertaining...
Background: Joint bleeds ( JB ) are reported in a minority of patients with von Willebrand disease VWD but may lead to structural joint damage. Prevalence, severity and impact largely unknown. Objectives: The aim this study was assess prevalence, onset, treatment on health‐related quality life HR ‐QoL) integrity moderate severe . Methods: In the Netherlands 804 [von factor VWF activity ≤30U dL −1 ] completed questionnaire occurrence, sites consequences To analyse number, we additionally...
Summary Prophylaxis is the recommended treatment for children with severe haemophilia A, but whether prophylaxis should be continued in adulthood still under debate. Previous studies limited follow-up have suggested that some patients may able to stop adulthood, while maintaining good joint health. This single-centre observational cohort study examined A born 1970–1988 without inhibitor development, and assessed long-term consequences of discontinuing prophylaxis. Patient-initiated changes...
Abstract There is significant ongoing debate regarding type 1 von Willebrand disease (VWD) defintion. Previous guidelines recommended patients with factor (VWF) levels <30 IU/dL be diagnosed VWD, whereas bleeding and VWF from 30 to 50 low VWF. To elucidate the relationship between VWD in context of age-induced increases levels, we combined data sets 2 national cohort studies: 162 Low Ireland Cohort (LoVIC) 403 The Netherlands (WiN) studies. In 47% participants, remained despite...
The aim of replacement therapy in haemophilia is to improve Health-Related Quality Life (HRQoL) by preventing bleeding and arthropathy. However, the association arthropathy with HRQoL unknown.To explore haemophilic HRQoL.A post hoc analysis on patients severe/moderate SF36 questionnaire (SF36) X-rays ankles, knees elbows made within 2.5-years. scores 'physical functioning' (SF36-PF, range 0-100, optimum 100) Utility (SF6D-Utility, 0-1, 1) radiological Pettersson (PS, 0-78, 0) were...
Patients with severe von Willebrand disease (VWD) may develop arthropathy after joint bleeds. Information on its prevalence and severity is limited. We aimed to assess the occurrence of in VWD impact daily life. patients without verified bleeds were matched for age, sex Factor VIII level or activity a nested case-control study within Netherlands study. Assessments included Hemophilia Joint Health Score (0–124), Pettersson score (0–13 per X-ray), Activity List (0–100), pain (Visual Analog...
Genotyping is not routinely performed at diagnosis of von Willebrand disease (VWD). Therefore, the association between genetic variants and pathogenic mechanism or clinical laboratory phenotype unknown in most patients, especially type 1 VWD. To investigate whether genotyping adds to a better understanding mechanisms variability phenotype, we analyzed VWF gene 390 well-defined VWD included WiN study. A variant was found 155 patients (61.5%) with 1, 122 (98.4%) 2, 14 (100%) 3 Forty-eight were...
Von Willebrand disease (VWD) type 3 is characterized by a complete deficiency of von factor (VWF), resulting in severe bleeding phenotype. Treatment often requires administration VWF concentrates/factor (F)VIII. However, the development alloantibodies rare complication, ineffective recovery and allergic reactions. Emicizumab, bispecific antibody mimicking FVIII function, has emerged as potential alternative, with promising results reported several case reports.
<h2>Abstract</h2><h3>Background</h3> δ‐storage pool disease (δ‐SPD) is a bleeding disorder characterized by reduced number of platelet‐dense granules. The diagnosis δ‐SPD depends on the measurement platelet ADP content, but this test time consuming and requires relatively large blood volume. Flow cytometric analysis mepacrine uptake potential alternative, approach lacks validation, which precludes its use in diagnostic setting. <h3>Objectives</h3> To evaluate performance as for δ‐SPD....