Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
| Autor: | Lars Holmberg, J E Sadler, A. Srivastava, Christine A. Lee, Ian R. Peake, M. Nishino, Emmanuel J. Favaloro, Augusto B. Federici, Dominique Meyer, U. Budde, P. M. Mannucci, F. Rodeghiero, Zaverio M. Ruggeri, Jørgen Ingerslev, Jeroen Eikenboom, Reinhard Schneppenheim, Frank Hill, Robert R. Montgomery, David Lillicrap, William L. Nichols, Claudine Mazurier |
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| Rok vydání: | 2006 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty ADAMTS13 Protein Review Gene mutation Platelet membrane glycoprotein Models Biological Von Willebrand factor hemic and lymphatic diseases Internal medicine von Willebrand Factor Von Willebrand disease Humans Medicine Clinical significance Vwf multimers biology business.industry Hematology medicine.disease Phenotype Pathophysiology Protein Structure Tertiary ADAM Proteins von Willebrand Diseases Endocrinology Immunology biology.protein business circulatory and respiratory physiology |
| Zdroj: | Journal of Thrombosis and Haemostasis. 4:2103-2114 |
| ISSN: | 1538-7836 |
| DOI: | 10.1111/j.1538-7836.2006.02146.x |
| Popis: | von Willebrand disease (VWD) is reportedly the most common bleeding disorder and is caused by deficiencies and/or defects in the adhesive plasma protein von Willebrand factor (VWF). Functionally, normal VWF prevents bleeding by promoting both primary and secondary haemostasis. In respect to primary haemostasis, VWF binds to both platelets and sub-endothelial matrix components, especially collagen, to anchor platelets to damaged vascular tissue and promote thrombus formation. VWF also stabilises and protects factor VIII in the circulation, delivering FVIII to the site of injury, which then facilitates secondary haemostasis and fibrin formation/thrombus stabilisation. As a result of this, patients with VWD suffer a bleeding diathesis reflective of a primary defect caused by defective/deficient VWF, which in some patients is compounded by a reduction in FVIII. Management of VWD, therefore, chiefly entails replacement of VWF, and sometimes also FVIII, to protect against bleeding. The current report principally focuses on the future potential for “personalised” management of VWD, given the emerging options in recombinant therapies. Recombinant VWF has been developed and is undergoing clinical trials, and this promising therapy may soon change the way in which VWD is managed. In particular, we can envisage a personalised treatment approach using recombinant VWF, with or without recombinant FVIII, depending on the type of VWD, the extent of deficiencies, and the period and duration of treatment. |
| Databáze: | OpenAIRE |
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