Von Willebrand disease in childhood

Seminars in Thrombosis and Hemostasis
R SchneppenheimA H Sutor

Abstract

Von Willebrand disease (vWD), a disorder of primary hemostasis, represents the most frequently inherited bleeding diathesis, It is caused by a quantitative reduction or a qualitative abnormality, or both, of von Willebrand factor (vWF), a glycoprotein normally found in plasma, endothelial cells, subendothelial cell space, megakaryocytes and platelets. Patients with vWD represent a heterogeneous group with different phenotypes and with clinical symptoms that vary in severity. Many of the described types and subtypes of vWD are caused by mutations and aberrations of the vWF gene. The aim of this article is to highlight the impact of gene analysis on the current knowledge of the inheritance of vWD as well as on the structure-function relationship of vWF, and to focus on the available diagnostic laboratory tests and treatment options for patients with vWD, especially in childhood.

Citations

Jan 22, 2005·Seminars in Hematology·Alok Srivastava
Jun 11, 2005·Journal of Thrombosis and Haemostasis : JTH·P K GuptaR Saxena
Dec 13, 2005·Biochemical and Biophysical Research Communications·Tatsuya AdachiTomoki Naoe
Feb 26, 2000·British Journal of Haematology·A H Sutor
Feb 14, 2014·Expert Review of Hematology·Sameh MikhailAmer Zeidan
Feb 1, 2003·Haemophilia : the Official Journal of the World Federation of Hemophilia·P MathewA D Shapiro
Jan 1, 1995·Veterinary Clinical Pathology·T. StokolP. D. Mansell
Apr 1, 2002·Paediatrics & Child Health·Robert J Klaassen, Jacqueline M Halton

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