The 80th anniversary of von Willebrand's disease: history, management and research.
The history of von Willebrand's disease (VWD) is fascinating because it demonstrates how good clinical observations, genetic studies and biochemical skills can improve basic understanding of a disease and its management. The continuous efforts of scientists and clinicians during the last 80 years have significantly improved the knowledge of von Willebrand factor (VWF) structure and function and the management of VWD. Diagnosis of phenotype and genotype is now available in many countries and treatment is becoming more specific according to the VWD type. Any therapeutic agents must correct the dual defect of haemostasis, i.e. the abnormal platelet adhesion due to reduced and/or dysfunctional and low levels of factor VIII (FVIII) associated with VWF defects. Desmopressin (DDAVP) is the treatment of choice for type 1 VWD because it induces release of VWF from cellular compartments. Plasma virally inactivated VWF concentrates containing FVIII are effective and safe in patients unresponsive to DDAVP. There are advanced plans to develop a recombinant VWF but this product will require the concomitant administration of FVIII for the control of acute bleeds. Basic research studies on cellular biology, biochemistry and immunology have confirmed the role of VWF as a crucial participant in both haemostasis and thrombosis as its main biological activity is to support platelet adhesion-aggregation in the circulation. Retrospective and prospective clinical research studies, including bleeding history and laboratory markers for diagnosis as well as the use of DDAVP and VWF concentrates to manage or prevent bleeds in patients with VWD have been essential to provide general guidelines for VWD management. The large number of publications quoting VWD and VWF emphasizes the important role of VWF in medicine.
Federici
A B
AB
Department of Internal Medicine and Medical Specialities, Angelo Bianchi Bonomi Haemophilia Thrombosis Centre, IRCCS Maggiore Policlinico Hospital, Mangiagalli, Regina Elena Foundation and University of Milan, Milan, Italy. augusto.federici@unimi.it
Berntorp
E
E
Lee
C A
CA
D002986:Clinical Trials as Topic / Q000266:history; D049673:History, 20th Century; D006801:Humans; D010375:Pedigree; D014842:von Willebrand Diseases / Q000235:genetics / Q000266:history* / Q000628:therapy; D014841:von Willebrand Factor / Q000266:history*
D014841:von Willebrand Factor