Abstract 13941: The Prevalence of Cardiovascular Disease in Patients With Von Willebrand Disease; A Potential Therapeutic Target

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Nawfal Mihyawi ◽  
MUHAMMAD AJMAL ◽  
Jun Hung ◽  
Beeletsega T Yeneneh

Introduction: Von Willebrand factor (vWF) plays an important role in the coagulation process at the site of vascular injury. It is unclear whether vWF deficiency is protective against cardiovascular disease (CVD) since investigations are limited in this entity. Hypothesis: Our study assessed the hypothesis that the prevalence of CVD is less in patients with than without Von Willebrand disease (vWD). Methods: We queried the National Inpatient Sample (NIS) from 2009-2014. Entire data was used with exclusion of patients below 18 and over 75-year-old. We defined cardiovascular disease as any event of myocardial infarction or a diagnosis of ischemic heart disease using the International Classification of Disease, 9th edition (ICD-9). The primary outcome of interest was to compare the odds ratio of CVD in patients with and without vWD. Results: A total of 224,475,443 weighted hospital discharge samples were identified. Of these, 82,809 carried a diagnosis of vWD. The odds of CVD were less common in vWD patients (OR 0.54; 95% CI 0.52 - 0.56) (table 1). After multivariate logistic regression analysis, with adjustment for age, gender and the most common CVD risk factors including hypertension, smoking, diabetes, hyperlipidemia, family history of CVD, chronic kidney disease and obesity the likelihood of CVD remained lower in vWD patients (OR 0.65; 95% CI 0.63-0.67) (table 2). Conclusions: Our study, the first to involve a large cohort of patients, demonstrated that vWF deficiency is associated with decreased prevalence of CVD. Hence, vWF could potentially be a therapeutic target in CVD management. More investigations are needed for confirmation of these findings and to determine causation.

2018 ◽  
Vol 11 (4) ◽  
pp. 192-194
Author(s):  
Patrick Harrington ◽  
Pippa Kyle ◽  
Jacky Cutler ◽  
Bella Madan

We present the obstetric history of a family of three sisters with Von Willebrand disease, managed in our centre over the course of nine successful pregnancies. The abnormalities result from inheritance of an exon 50 skipping mutation in the Von Willebrand factor gene, resulting from consanguinity. Two of the sisters were identified as having a severe phenotype with a Von Willebrand factor level of less than 5 IU/dl, with the other having a mild phenotype. Of the sisters with a severe phenotype, one had a number of prenatal complications and required early onset prophylaxis with Von Willebrand factor concentrate, whilst the other had a less complicated clinical course, only requiring Von Willebrand factor concentrate to cover labour. The sister with mild Von Willebrand disease had a rise in Von Willebrand factor levels during pregnancy and required no specialist treatment. The report highlights the markedly different clinical courses that can occur in patients with Von Willebrand disease and the different approaches to management.


2021 ◽  
Vol 14 (8) ◽  
pp. e241613
Author(s):  
Vaishnavi Divya Nagarajan ◽  
Asha Shenoi ◽  
Lucy Burgess ◽  
Vlad C Radulescu

An 18-year-old man with a history of type 3 von Willebrand disease (VWD) presented with a spontaneous pyohaemothorax. Type 3 VWD may present with both mucocutaneous and deep-seated bleeds, such as visceral haemorrhages, intracranial bleeds and haemarthrosis. There have been very few cases described in children of spontaneous pyohaemothorax. Management of this patient was challenging due to risks of bleeding following surgical drainage, requiring constant replacement with von Willebrand factor concentrate, while monitoring factor VIII levels to balance the risks of thrombosis.


Author(s):  
Marika Pikta

Accurate diagnosis and classification of von Willebrand disease are essential for optimal management.  The von Willebrand factor multimers analysis is in the phenotypic classification, especially in discrepant cases, an integral part of the diagnostic process. The aim of this study was to evaluate the performance of a new Hydragel 11VWF multimer assay (H11VW). Results: Comparison study did not reveal any significant difference between H5VW and H11VW.  The assessment of within-subject results, using H5VW and H11VW, demonstrates the reproducibility of the method in both healthy and VWD patients’ samples collected over time, with identical multimeric pattern on densitometric curves.Conclusion: This assay demonstrated acceptable performance, produced within-day results and can be used in routine practice for the visual investigation of gel and quantitative estimation of VWF multimer fractions.


Blood ◽  
2015 ◽  
Vol 125 (19) ◽  
pp. 3006-3013 ◽  
Author(s):  
Yvonne V. Sanders ◽  
Dafna Groeneveld ◽  
Karina Meijer ◽  
Karin Fijnvandraat ◽  
Marjon H. Cnossen ◽  
...  

Key Points VWFpp discriminates between type 3 VWD patients and severe type 1 VWD patients with very low VWF levels. The pathophysiological mechanisms of all types of VWD can be defined by the combined ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag.


2006 ◽  
Vol 4 (10) ◽  
pp. 2103-2114 ◽  
Author(s):  
J. E. SADLER ◽  
U. BUDDE ◽  
J. C. J. EIKENBOOM ◽  
E. J. FAVALORO ◽  
F. G. H. HILL ◽  
...  

2019 ◽  
Vol 45 (07) ◽  
pp. 708-719 ◽  
Author(s):  
Javier Batlle ◽  
Almudena Pérez-Rodríguez ◽  
Irene Corrales ◽  
Nina Borràs ◽  
Joana Costa Pinto ◽  
...  

AbstractDiagnosis of von Willebrand disease (VWD) depends on personal and family history of bleeding and confirmatory laboratory testing. Currently available phenotypic tests for VWD contain potential sources for error that may distort results. Despite an exponential growth of information about the von Willebrand factor gene (VWF), the role of molecular diagnosis in VWD is still controversial. Due to the complexity and high cost of conventional molecular analyses, some investigators have recommended limiting this approach to distinguish suspected type 2N VWD from hemophilia A, type 2B from platelet-type VWD, and the exploration of type 3 VWD. New genetic methodologies and approaches are becoming available, but there is still some reluctance for their implementation in VWD diagnosis. This article discusses the pros and cons of molecular testing in VWD considering the experience obtained through the multicenter project “Molecular and Clinical Profile of VWD in Spain (PCM-EVW-ES).”


Blood ◽  
2011 ◽  
Vol 117 (4) ◽  
pp. 1393-1399 ◽  
Author(s):  
Marianne C. van Schie ◽  
Moniek P. M. de Maat ◽  
Aaron Isaacs ◽  
Cornelia M. van Duijn ◽  
Jaap W. Deckers ◽  
...  

Abstract High levels of von Willebrand factor (VWF) are associated with an increased risk for cardiovascular disease (CVD). Although VWF levels are strongly heritable and genetic susceptibility is an important risk factor for CVD, information on the contribution of common VWF gene variants to VWF levels and CVD risk is limited. In a case-control study of 421 young patients with a first event of acute coronary heart disease (CHD) or ischemic stroke (IS), and 409 healthy control participants (men aged ≤ 45 years, women aged ≤ 55 years), 27 haplotype-tagging single-nucleotide polymorphisms (ht-SNPs), covering the total common VWF gene variation, were selected and genotyped. The associations between these SNPs, VWF antigen (VWF:Ag) levels, VWF collagen-binding (VWF:CB) activity, and CVD risk was investigated. Two new associations were identified. For ht-SNP rs4764478 (intron 45), the increase in VWF:Ag levels and VWF:CB activity per minor allele was 0.082 (± 0.026) IU/mL (P = .001) and 0.096 (± 0.030) IU/mL (P = .002), respectively. ht-SNP rs216293 (intron 17) was associated with CVD risk (odds ratio, 1.44; 95% confidence interval [CI], 1.12-1.86 per minor allele). We confirmed the association between rs1063857 and CVD risk. Our data show that common variants in the VWF gene are associated with VWF levels and with the risk for CVD.


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