Response to DDAVP in children with von Willebrand disease type 2

2009 ◽  
Vol 29 (02) ◽  
pp. 143-148 ◽  
Author(s):  
U. Budde ◽  
K. Beutel ◽  
W.-A. Hassenpflug ◽  
H. Hauch ◽  
T. Obser ◽  
...  
Keyword(s):  
Disease Type ◽  
Von Willebrand Disease ◽  
Molecular Defect ◽  
Variable Response ◽  
Functional Parameters ◽  
Functional Defect ◽  
Biologic Response ◽  
High Level ◽  
Von Willebrand

SummaryWe have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the phenotype and the molecular defect of VWF. The diagnosis of VWD type 2 was mainly based on VWF functional parameters and/or an aberrant VWF multimer pattern. Seventeen different mutations were identified (6 of them novel). No response with respect to the functional parameters VWF:RCo and/or VWF:CB was seen in patients with severe abnormality of the VWF multimer pattern. One patient with VWD type 2A phenotype IIC Miami did not respond with respect to VWF:CB, but showed a good response of VWF:Ag and FVIII:C as expected. Interestingly he showed a persistently high level of VWF:Ag and FVIII:C up to 4 hours after DDAVP infusion. Patients with minor alterations of multimer structure and particular mutations responded well to DDAVP, whereas patients with normal multimer structure but a defect in platelet dependent functional parameters did not respond with VWF:RCo. Conclusion: Children with VWD type 2 show a variable response to desmopressin depending on the mutation that correlates with the functional defect and the presence or absence as well as the half-life of large VWF multimers. Our data emphasize the usefulness of DDAVP testing even in patients with VWD type 2, possibly with the exception of VWD type 2B.

Recessive von Willebrand Disease Type 2 Normandy: Variable Expression of Mild Hemophilia and VWD Type 1

2009 ◽  
Vol 121 (2-3) ◽  
pp. 119-127 ◽  
Author(s):  
Jan Jacques Michiels ◽  
Alain Gadisseur ◽  
Inge Vangenegten ◽  
Wilfried Schroyens ◽  
Zwi Berneman
Keyword(s):  
Disease Type ◽  
Von Willebrand Disease ◽  
Variable Expression ◽  
Von Willebrand

Desmopressin parenteral bei VWD 1, VWD 2A und Thrombozytopathie

2011 ◽  
Vol 31 (S 01) ◽  
pp. S29-S33 ◽  
Author(s):  
H. Pollmann ◽  
B. Siegmund
Keyword(s):  
Side Effects ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Occlusion Time ◽  
Almost All ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Ristocetin Cofactor

SummaryDesmopressin (DDAVP, Minirin® parenteral), which induces the release of von-Willebrand factor from endogenous stores, is indicated in von Willebrand disease type 1 (VWD 1). In the present study effectiveness of DDAVP was tested and side effects were recorded in patients with VWD 1, von Willebrand disease type 2 (VWD 2) or thrombocytopathy (TCP). Patients, methods Subjects were analysed prior to and after Minirin parenteral infusion (0.4 μg/kg body weight (b.w.) over 60 minutes) for partial thromboplastin time (PTT, seconds), ADP/epinephrine triggered plateletfunction analyzer (PFA-100) occlusion time (seconds), factor VIII activity (FVIII, %), VWF as ristocetin cofactor activity (VWF:RCo, %) and VWF antigen (VWF:Ag, %). Side effects of DDAVP during operative interventions were recorded per questionnaires by the patients. Results The mean ± standard deviation dose (n = 165 patients) of Minirin parenteral administered was 0.37 ± 0.02 μg/kg b.w., most often upcoming dental operations (57%) necessitated testing. Coagulation parameters of patients with VWD 1 or TCP normalised in almost all patients, but only in approximately 50% of patients with VWD 2 respectively. Appraisal of effectiveness of Minirin parenteral as good was 96% in case of VWD 1 and 95 % in case of TCP. During minor surgeries (n = 23) in 91% of the patients no complications and in 2 patients (9%) postoperative haemorrhages without need for further interventions occurred, but 83% of the patients reported adverse reactions in the questionnaires, although Minirin parenteral was well tolerated by all patients during DDAVP efficacy tests. Conclusion Desmopressin is well tolerated and affective in patients with VWD 1 and thrombocytopathy.

Maternal and fetal outcomes in pregnancies affected by von Willebrand disease type 2

2001 ◽  
Vol 184 (2) ◽  
pp. 229-230 ◽  
Author(s):  
J. Burlingame ◽  
A. McGaraghan ◽  
S. Kilpatrick ◽  
J. Hambleton ◽  
E. Main ◽  
...  
Keyword(s):  
Disease Type ◽  
Von Willebrand Disease ◽  
Fetal Outcomes ◽  
Von Willebrand

Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B

Haemophilia ◽  
2016 ◽  
Vol 22 (5) ◽  
pp. e439-e443 ◽  
Author(s):  
L. Rugeri ◽  
M. Fretigny ◽  
Y. Dargaud ◽  
C. Nougier ◽  
C. Vinciguerra
Keyword(s):  
Decision Making ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Therapeutic Decision ◽  
Therapeutic Decision Making ◽  
Von Willebrand

scholarly journals Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review—a commentary

2016 ◽  
Vol 122 (2) ◽  
pp. 259-260 ◽  
Author(s):  
Mathangi Kumar ◽  
Shruthi Acharya ◽  
Keerthilatha M. Pai ◽  
Vineetha Ravindranath ◽  
Aditi Chadha ◽  
...  
Keyword(s):  
Literature Review ◽  
Rare Case ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Initial Manifestation ◽  
Von Willebrand

Von Willebrand Disease Type 2M “Vicenza” in Italian and German Patients: Identification of the First Candidate Mutation (G3864A; R1205H) in 8 Families

2000 ◽  
Vol 83 (01) ◽  
pp. 136-140 ◽  
Author(s):  
Augusto Federici ◽  
Ulrich Budde ◽  
Giancarlo Castaman ◽  
Elke Drewke ◽  
Sonja Krey ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Mutation Screening ◽  
Normal Subjects ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Heteroduplex Analysis ◽  
Molecular Defect ◽  
Coding Region ◽  
Candidate Mutation ◽  
Von Willebrand

SummaryVon Willebrand disease type 2M “Vicenza” (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of “supranormal” multimers in plasma. This specific phenotype has been described in Italian and recently also in German patients. The molecular defect is linked to the VWF gene. However, no specific mutations have been identified until now. We analysed the complete coding region and adjacent intron sequences of the VWF gene in Italian families in comparison to German families with VWD 2M V by a PCR-based mutation screening, combined with SSC-and heteroduplex-analysis of exons 2 through 52, followed by direct sequencing. We identified the first heterozygous candidate mutation (G3864A; R1205H) in all affected members of the 7 Italian families and in 1 German patient but not in the unaffected family members nor on 100 chromosomes of normal subjects, suggesting a causal relationship between the mutation and the phenotype. Haplotype identity, with minor deviations in one Italian family, suggests a common but not very recent genetic origin of R1205H.

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