[HTML][HTML] Von Willebrand disease type 2N: an update

O Seidizadeh, F Peyvandi, PM Mannucci - Journal of Thrombosis and …, 2021 - Elsevier
Quantitative or qualitative defects of von Willebrand factor (VWF) are responsible for the
most common inherited bleeding disorder, von Willebrand disease (VWD). Type 2N VWD is …

Von Willebrand factor testing ratios in the diagnosis and subtyping of von Willebrand disease

KJ Smock - International Journal of Laboratory Hematology, 2023 - Wiley Online Library
Von Willebrand disease (VWD) is a common bleeding disorder of platelet adhesion with six
currently recognized subtypes. Laboratory diagnosis consists of an initial test panel …

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2

O Seidizadeh, L Baronciani, MT Pagliari… - Blood …, 2022 - ashpublications.org
Abstract von Willebrand disease (VWD) type 2 is caused by qualitative abnormalities of von
Willebrand factor (VWF). This study aimed to determine the genotypic and phenotypic …

Occurrence rates of von Willebrand disease among people receiving care in specialized treatment centres in the United States

JM Soucie, CH Miller, VR Byams, AB Payne… - …, 2021 - Wiley Online Library
Introduction In the network of US comprehensive haemophilia treatment centres (HTCs), von
Willebrand disease (VWD) is the most common bleeding disorder other than haemophilia …

[HTML][HTML] A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays

P Colpani, L Baronciani, F Stufano, G Cozzi… - Research and Practice …, 2023 - Elsevier
Background Several assays are now available to evaluate platelet-dependent von
Willebrand factor (VWF) activity. Objective To report the results obtained using 4 different …

[HTML][HTML] Von Willebrand disease type 2M: correlation between genotype and phenotype

DP Maas, F Atiq, NMA Blijlevens, PPT Brons… - Journal of Thrombosis …, 2022 - Elsevier
Background An appropriate clinical diagnosis of von Willebrand disease (VWD) can be
challenging because of a variable bleeding pattern and laboratory phenotype. Genotyping is …

Initial von Willebrand factor antigen values in adolescent females predict future values

CT Cohen, M Zobeck, JM Powers - Haemophilia, 2023 - Wiley Online Library
Abstract Introduction Diagnosing von Willebrand Disease (VWD) in adolescent females is
challenging as menstruation and physiologic stress elevate von Willebrand factor (VWF) …

[HTML][HTML] Increasing levels of von Willebrand factor and factor VIII with age in patients affected by von Willebrand disease

E Biguzzi, SM Siboni, S le Cessie, L Baronciani… - Journal of Thrombosis …, 2021 - Elsevier
Essentials• VWF and FVIII increase with age in patients affected by VWD.• VWF and FVIII
increase in type 1 and in low levels of VWF patients.• VWF and FVIII do not increase in type …

Application of genetic testing for the diagnosis of von Willebrand disease

O Seidizadeh, L Baronciani, D Lillicrap… - Journal of Thrombosis …, 2024 - Elsevier
Abstract von Willebrand disease (VWD) is the most frequent inherited bleeding disorder with
an estimated symptomatic prevalence of 1 per 1,000 in the general population. VWD is …

Resolving differential diagnostic problems in von willebrand disease, in fibrinogen disorders, in prekallikrein deficiency and in hereditary hemorrhagic telangiectasia …

R Gindele, A Kerényi, J Kállai, G Pfliegler… - Life, 2021 - mdpi.com
Diagnosis of rare bleeding disorders is challenging and there are several differential
diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these …