Classification of von Willebrand Disease

2011 ◽  
pp. 74-85 ◽  
Author(s):  
Javier Batlle ◽  
Almudena Pérez-Rodríguez ◽  
María Fernanda López-Fernández
2001 ◽  
Vol 14 (2) ◽  
pp. 281-298 ◽  
Author(s):  
Reinhard Schneppenheim ◽  
Ulrich Budde ◽  
Zaverio M. Ruggeri

Haemophilia ◽  
1999 ◽  
Vol 5 (s2) ◽  
pp. 46-49 ◽  
Author(s):  
L. Holmberg ◽  
S. Lethagen

1994 ◽  
Vol 71 (04) ◽  
pp. 520-525 ◽  
Author(s):  
J Evan Sadler

SummaryA simplified phenotypic classification of von Willebrand disease is proposed that is based on differences in pathophysiology. Quantitative defects arc divided into partial deficiency (type 1) and severe deficiency (type 3). Qualitative defects (type 2) are divided into four subcategories. Type 2A refers to variants with decreased platelet-dependent function associated with the loss of high-molecular weight VWF multimers. Type 2B refers to variants with increased affinity for platelet glycoprotein lb. Type 2M refers to qualitatively abnormal variants with decreased platelet-dependent function not associated with the loss of high-molecular weight multimers. Type 2N refers to variants with decreased affinity for factor VIII. When recognized, mixed phenotypes caused by compound heterozygosity are indicated by separate classification of each allele. Standard amino acid and nucleotide numbering schemes are recommended for the description of mutations.


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.


2009 ◽  
Vol 121 (2-3) ◽  
pp. 71-84 ◽  
Author(s):  
Alain Gadisseur ◽  
Cedric Hermans ◽  
Zwi Berneman ◽  
Wilfried Schroyens ◽  
Hans Deckmyn ◽  
...  

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