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Title: Diagnosis, classification and treatment of Von Willebrand disease
Author: Nitu-Whalley, Ioana Camelia
ISNI:       0000 0001 3447 6232
Awarding Body: University of London
Current Institution: University College London (University of London)
Date of Award: 2002
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Von Willebrand disease (VWD) has been the subject of numerous studies and debates regarding diagnosis, classification and treatment. My research involved prospective and retrospective studies of patients with VWD registered at the Royal Free Hospital London. During the evaluation of the diagnosis of VWD we found that the von Willebrand factor ristocetin cofactor assay was superior to the ELISA assays. The study of new tests, such as the collagen binding assay and the platelet function analyser were shown to have an adjunctive role in the characterisation of patients with VWD. Another study investigated the proposed criteria for defining type 1 VWD (into 'definite' and 'possible' categories adjusted for the ABO blood group) and we showed that these criteria were too stringent as they left many individuals with bleeding histories unclassified. In another study we demonstrated that a group of patients previously diagnosed with type 1 VWD were misclassified as they were type 2 VWD as shown by phenotypes, genotypes and molecular modelling of the identified mutations. Furthermore, using molecular diagnosis and modelling a 2A/2B genotype was found in a kindred with type 2A VWD and thrombocytopaenia. The role of desmopressin is well established in mild forms of type 1 VWD but there is little data on its role in severe type 1 and type 2 VWD. Our research showed that 30% of these patients can also benefit from desmopressin therapy. There are currently no guidelines on the management of elective surgery in patients with VWD and this thesis reviewed the treatment with desmopressin and clotting factor concentrates in these patients. In conclusion, this thesis brings new data for the clarification of the diagnosis of VWD, it offers new perspectives into the complex classification and, finally, it investigates the optimal therapeutic options for patients with VWD.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available
Keywords: Medicine