Newly Published Review: Emerging Insights and Advanced Treatments for PT-VWD

The review article highlights important insights on the pathology of PT-VWD as well as examines novel diagnostic and therapeutic strategies. Emerging peptide based therapeutic and diagnostic tools have shown promise in the treatment of PT-VWD in vitro models. Click here to access the article.

Fu A, Kazmirchuk TDD, Bradbury-Jost C, Golshani A, Othman M. Platelet-Type von Willebrand Disease: Complex Pathophysiology and Insights on Novel Therapeutic and Diagnostic Strategies. Semin Thromb Hemost. 2024 Aug 27. doi: 10.1055/s-0044-1789183. Epub ahead of print. PMID: 39191406.

Development of Consensus on Standardized Nomenclature for Platelet-type Von Willebrand disease (PT-VWD)- International Survey

August 4, 2021

The Platelet Physiology SSC, the VWF SSC and the Genomics in Thrombosis and Hemostasis SSC seek input from the ISTH community regarding standardization of nomenclature for Platelet-type Von Willebrand disease.  Indeed, while the term “PT-VWD” has gained popularity since the description of the first gene mutation, certain shortcomings have been put forward in the last years, including that (a) it does not accommodate the protein name, or indicate the pathologic nature of the functional defect; (b) it may not account for anticipated future scientific development regarding other genetic defects; and (c) it may generate confusion with Von Willebrand Disease, a completely different entity. Please find detailed information about this project.

We invite you to fill in the following survey on the nomenclature of Platelet type-Von Willebrand Disease (PT-VWD) to help develop a consensus on standardized nomenclature for this disease. The deadline for submission of your responses to the survey is August 30 2021.

ISTH Guidance on the diagnosis and management of PT-VWD

August 2020. To help physicians and specialists better diagnose and manage PT-VWD, ISTH has released a guidance document. It is a communication from the Platelet Physiology Subcommittee of the ISTH. This is now published in J Thromb Haemost. 2020 Aug;18(8):1855-1858. doi: 10.1111/jth.14827

New PT-VWD Mutation Reported at ISTH 2020 Virtual Meeting

August, 2020. A novel p.R111Q variant in the LLR5 domain of the GPIb alpha is predicted to increase affinity of the protein receptor to its ligand VWF. This was reported at the ISTH 2020 virtual congress https://www.isth2020.org/. Read the abstract and review poster at ISTH Academy here

Combined PT-VWD & type 2B VWD Phenotype

UPDATE: March 2018.

The first report of a combination of two mutations: one in the VWF gene; causing type 2B VWD (p.Pro1266Leu; type 2B VWD Malmö/New York) and another in the platelet GP1BA gene; causing a PT-VWD phenotype (p.Met255ILe) has been reported. Thromb Haemost. 2016 Sep 29;116(5).

ISTH Final Report on PT-VWD Registry and Worldwide Efforts Now Published in JTH

May 2106. An overview, progress and update on the research work and collaborative world wide efforts since 2007 is now published in the Journal of Thrombosis and Haemostasis, 14: 411–414. Click here to read the full article

 

ISTH Project to Support PT-VWD Diagnosis & Management

May 10th 2015.

An invitation for physicians and specialists caring for PT-VWD patients to participate in an international survey to help generate an evidence-based diagnosis and management for PT-VWD. For details, click here

A 6th novel mutation reported to cause PT-VWD

Jan 31st 2014. A new non- previously reported mutation within VWF binding region of GP1BA  gene is now reported in a patient diagnosed with PT-VWD in Argentina. The patient had severe bleeding symptoms, macrothrombocytopenia, mild spontaneous platelet aggregation, positive RIPA at 0.3 and 0.4 mg/mL, VWF:RCo to VWF:Ag  ratio < 0.2, normal VWF propeptide/VWF:Ag ratio, and RIPA mixing tests and cryoprecipitate challenge all positive for PT-VWD. Published in Seminar Thrombosis and Haemostasis Jan 2014 http://www.ncbi.nlm.nih.gov/pubmed/24474090

PT-VWD updates reported to ISTH 2012: SSC-VWF

July 27 2012 Click here for an update http://c.ymcdn.com/sites/www.isth.org/resource/resmgr/yearly_subcommittee_minutes/2012_minutes.pdf

PT-VWD updates reported to ISTH 2011: SSC-VWF

Aug 16 2011

Click here for an update http://www.isth.org/default/index.cfm/ssc1/2011-ssc-subcommittee-minutes/2011-von-willebrand-factor-minutes/