Diagnosis and Management ofvon Willebrand Disease in Spain

Abstract

The correct diagnosis and classification of Von Willebrand disease (VWD) is important for therapy and genetic counseling but is made difficult due to the variability of its clinical expression and limitations of laboratory methods. A national registry of VWD patients has been initiated in Spain. The results of a concise survey on the diagnosis of VWD show the frequency of VWD is fivefold greater in Spain than that expected from epidemiological studies in other European countries; this may result from overdiagnosis and/or a higher prevalence of VWD. These results clearly reinforce the need for the Spanish VWD registry. A consensus guideline for optimal treatment of VWD is being elaborated in Spain. Desmopressin (DDAVP) is the choice of treatment in responsive VWD patients. Von Willebrand factor concentrates (VWF/factor VIII) are used in individuals nonresponsive to DDAVP, when DDAVP is contraindicated, or in VWD types 2B and 3.

Von Willebrand's disease: case report and review of literature

“…If after careful consideration, it is to be used in this age group then fluid restriction, avoidance of hyponatraemic solutions and close monitoring of serum electrolytes and urine output for at least 24 hr after administration is advised. Tranexamic acid administered topically, as a mouthwash, orally or parenterally remains a useful therapy for minor bleeding or surgery (beginning prior to the procedure) either on its own or as an adjunctive therapy to desmopressin or concentrates [ 18 ]. VWF-containing concentrates a number of plasma-derived concentrates containing VWF are available for replacement therapy in patients whose desmopressin response is inadequate for the relevant bleeding episode or surgical procedure [ 19 ].…”

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project

“…The ‘Molecular and Clinical Profile of von Willebrand Disease in Spain (PCM–EVW–ES)’ project is a survey that centrally analysed a large cohort of patients from Spain. For further details of the study design and recruitment see references [ 3 , 18 ]. The study recruited 556 patients, of whom 480 were finally diagnosed with VWD, from 38 centres nationwide.…”

“…The exclusion criteria were the presence of any data suggesting acquired von Willebrand syndrome (AVWS). A 30 IU/dL VWF cut-off plasma level was used when a low VWF level was the only fulfilled criteria [ 3 , 18 ] . The main demographic data of the participants are included in Table 1 .…”

“…Accurate diagnosis and classification of VWD are essential for optimal management and genetic counselling, but frequently are difficult due to the variability of its clinical expression, and difficulties in standardising a panel of diagnostic tests, some of which are not available in all laboratories [ 3 – 11 ] .…”

“…The need for molecular and clinical characterisation of VWD in Spain prompted the creation of a multicentre project (Molecular and Clinical Profile of von Willebrand Disease in Spain; PCM-EVW-ES) that resulted in the one of the largest prospective cohort study of patients with all types of VWD [ 3 , 18 ] . In this project, the role of next generation sequencing (NGS) in VWD diagnosis was evaluated demonstrating it can resolve many of the drawbacks and limitations of phenotyping [ 19 ].…”