Article
Hematology
James S. O'Donnell
Summary: Research has extensively studied the biological mechanisms involved in the pathogenesis of type 2 and type 3 von Willebrand disease (VWD). However, the pathobiology underlying partial quantitative VWD, which accounts for the majority of VWD cases, has remained somewhat elusive. Recent cohort studies have shown that reduced plasma VWF levels in these patients may result from decreased biosynthesis and/or secretion in endothelial cells, or from pathological increase in VWF clearance. Additionally, it has been found that some patients with mild to moderate reductions in plasma VWF levels may still exhibit significant bleeding phenotypes, and an increase in VWF levels may not necessarily equate to a complete correction in bleeding phenotype.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2021)
Article
Hematology
John Cameron Barton, Cooper Anderson, Frida Z. Miranda, Rachel Kelley, Johanna A. Kremer Hovinga, Deirdra Terrell, Sara K. Vesely, James N. George, Joshua Muia
Summary: The Cattle-FRETS71 assay shows good correlation with other assays in quantifying ADAMTS13 activity in human plasma, making it a potentially useful tool for diagnosing TTP.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Hematology
Catarina Monteiro, Ana Goncalves, Monica Pereira, Catarina Lau, Sara Morais, Rosario Santos
Summary: Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant bleeding disorder characterized by increased platelet aggregation and enhanced affinity of GPIba to VWF. A novel heterozygous variant of GP1BA, likely causing the PT-VWD phenotype, was identified in the patient through genetic sequencing.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Hematology
Emmanuel J. Favaloro, Leonardo Pasalic, Brandon Henry, Giuseppe Lippi
Summary: The article introduces the role and detection methods of the metalloproteinase ADAMTS13 in clinical conditions such as thrombotic thrombocytopenic purpura, as well as discusses the limitations and potential utility of rapid ADAMTS13 testing methods.
AMERICAN JOURNAL OF HEMATOLOGY
(2021)
Article
Hematology
Justine H. Ryu, Kenneth A. Bauer, Sol Schulman
Summary: This report describes the successful perioperative management of a patient with type 2N VWD using the recombinant FVIII product efanesoctocog alfa. By decoupling the FVIII-VWF interaction, efanesoctocog alfa achieves prolonged FVIII circulation and mitigates potential cardiovascular risks.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Biochemistry & Molecular Biology
Marcela Montilla, Isabel Atienza-Navarro, Francisco Jose Garcia-Cozar, Carmen Castro, Francisco Javier Rodriguez-Martorell, Felix A. Ruiz
Summary: Polyphosphate (polyP) plays an important modulatory role in the binding of von Willebrand factor (VWF) and Factor VIII (FVIII) in blood coagulation, and may be used in developing new therapies to activate VWF.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Hematology
Nicholas L. J. Chornenki, Maaz Shanjer, Paula D. James
Summary: Vascular abnormalities in patients with VWD primarily occur in the gastrointestinal tract, with type 2A and type 3 VWD being the most common subtypes affected. The clinical treatment and natural history of these abnormalities remain understudied, highlighting the need for further research.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Hematology
Linru Xu, Yanyang Qiu, Yanqing Li, Yaxuan Wei, Yan Wan, Wei Deng
Summary: A new fluorescent protein-VWF chimera (FP-VWF) was developed to monitor the tissue dynamics of VWF distribution, showing similar hematologic function to wild-type VWF. The results indicated the value of FP-VWF in probing the tissue dynamics of VWF in various biological and pharmaceutical applications.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Hematology
Maria Teresa Pagliari, Frits R. Rosendaal, Minoo Ahmadinejad, Zahra Badiee, Mohammad-Reza Baghaipour, Luciano Baronciani, Olga Benitez Hidalgo, Imre Bodo, Ulrich Budde, Giancarlo Castaman, Peyman Eshghi, Jenny Goudemand, Mehran Karimi, Bijan Keikhaei, Riitta Lassila, Frank W. G. Leebeek, Maria Fernanda Lopez Fernandez, Pier Mannuccio Mannucci, Renato Marino, Johannes Oldenburg, Ian Peake, Cristina Santoro, Reinhard Schneppenheim, Andreas Tiede, Gholamreza Toogeh, Alberto Tosetto, Marc Trossaert, Hamideh Yadegari, Eva M. K. Zetterberg, Flora Peyvandi, Augusto B. Federici, Jeroen Eikenboom
Summary: The VWFpp/VWF:Ag ratio indicates missense variants, while the FVIII:C/VWF:Ag ratio does not discriminate between missense and null alleles. The level of VWFpp is not associated with the severity of bleeding symptoms.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Hematology
Ferdows Atiq, Esmee Wuijster, Moniek P. M. de Maat, Marieke J. H. A. Kruip, Marjon H. Cnossen, Frank W. G. Leebeek
Summary: The study investigated the incidence of bleeding after low VWF diagnosis and developed a risk score to predict future bleeding. The cutoff value for low VWF diagnosis should be set at 0.60 IU/ml, and a risk score has been developed to identify individuals with a high risk for bleeding after low VWF diagnosis.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Review
Biochemistry & Molecular Biology
Juan A. De Pablo-Moreno, Luis Javier Serrano, Luis Revuelta, Maria Jose Sanchez, Antonio Liras
Summary: The vascular endothelium plays a crucial role in hemostasis, maintaining a delicate balance between procoagulant and anticoagulant proteins, as well as fibrinolytic and antifibrinolytic factors. Coagulation disorders can be caused by mutations in coagulation factors or disruptions in the regulatory mechanisms. Treatment options include replacement and nonreplacement therapies, as well as administration of antifibrinolytic agents. Targeted therapies, such as monoclonal antibodies and interfering RNA therapies, are also being developed. The treatment approach for thrombophilia, disseminated intravascular coagulation, and severe thrombophilia varies depending on the specific condition.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Engineering, Biomedical
Mansur Zhussupbekov, Rodrigo Mendez Rojano, Wei-Tao Wu, Mehrdad Massoudi, James F. Antaki
Summary: The von Willebrand Factor is a mechano-sensitive protein in the blood that plays a key role in platelet adhesion and aggregation. Its conformational changes from a collapsed to a stretched state regulate its hemostatic function and thrombogenic effect. A continuum model of vWF unfolding was developed within a multi-constituent model of platelet-mediated thrombosis, considering two interconvertible vWF species corresponding to different conformational states. The model was verified in microfluidic systems designed for studying high-shear vWF-mediated thrombosis and von Willebrand Disease screening, showing high concentration of stretched vWF in regions where occlusive thrombosis occurred. The model can be used for numerical simulations in complex geometries, but may face challenges when extending to 3-D arbitrary flows and turbulent flows.
ANNALS OF BIOMEDICAL ENGINEERING
(2021)
Article
Hematology
Connie H. Miller
Summary: In this study, 4 out of 10 VWD3 patients developed VWF inhibitors, with 2 being detected during bleeding episodes and 2 during routine screening. Preanalytical heat treatment was necessary for detecting inhibitors post infusion.
Article
Hematology
Maria Teresa Pagliari, Ulrich Budde, Luciano Baronciani, Peyman Eshghi, Minoo Ahmadinejad, Zahra Badiee, Mohammad-Reza Baghaipour, Olga Benitez Hidalgo, Eugenia Biguzzi, Imre Bodo, Giancarlo Castaman, Jenny Goudemand, Mehran Karimi, Bijan Keikhaei, Riitta Lassila, Frank W. G. Leebeek, Maria Fernanda Lopez Fernandez, Renato Marino, Johannes Oldenburg, Ian Peake, Cristina Santoro, Reinhard Schneppenheim, Andreas Tiede, Gholamreza Toogeh, Alberto Tosetto, Marc Trossaert, Hamideh Yadegari, Eva M. K. Zetterberg, Pier Mannuccio Mannucci, Augusto B. Federici, Jeroen Eikenboom, Flora Peyvandi
Summary: The prevalence of anti-von Willebrand factor (VWF) antibodies was assessed in patients with type 3 von Willebrand disease (VWD). The study found that 8.4% of the subjects tested positive for anti-VWF antibodies, while 6% had neutralizing VWF inhibitors. These inhibitors were mainly found in patients homozygous for VWF null alleles.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Article
Hematology
Joppe G. Drop, Enno D. Wildschut, Moniek P. M. de Maat, Joost van Rosmalen, Willem P. de Boode, Matthijs de Hoog, C. Heleen van Ommen
Summary: This study investigated the incidence and longitudinal profile of acquired von Willebrand disease (AVWD) in children receiving ECMO support, as well as its association with bleeding complications. The results showed that all children developed AVWD during ECMO, but AVWD was independent of major bleeding and recovered quickly after ECMO cessation.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
