A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction

Mazurier, Claudine; Dieval, J; Jorieux, Sylvie; Delobel, J.; Goudemand, M

doi:10.1182/blood.v75.1.20.20

Cited by 150 publications

(68 citation statements)

References 35 publications

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“…This demonstrated that these patients did not need exogenous FVIII that could contribute to excessively increase the FVIII concentration and reinforce the thrombotic risk [5]. This concentrate was also effective in the treatment of patients with type 2N patients characterized by a defect in the FVIII binding capacity of vWF [6] con®rming the stabilization of FVIII upon the sole correction of the vWF de®ciency.…”

Section: Minor Surgery (N = 8)mentioning

confidence: 82%

Clinical management of patients with von Willebrand’s disease with a VHP vWF concentrate: the French experience

Goudemand¹,

Négrier²,

Ounnoughène³

et al. 1998

Haemophilia

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Part of the French clinical experience using the solvent/detergent (S/D) treated VHP von Willebrand factor (vWF) concentrate (LFB, Les Ulis, France) characterized by a high vWF:RCoF specific activity and a low factor VIII (FVIII) content is reported. Since 1989 this concentrate has been routinely used in clinical practice taking into account the vWF:RCoF given by the manufacturer. Seventy-five patients with von Willebrand disease (type 1: 42, 2A: 11, 2B: 5, 2N: 6, 3: 4, acquired: 7) were treated on 99 occasions either to control spontaneous bleedings (15) or to prevent haemorrhagic risks associated with minor (< 5 days of treatment) (48) or major (5 days of treatment) (36) surgery including seven knee or hip-replacements. Forty lots of concentrate were used containing 58 +/- 13 U mL-1 vWF:RCoF with less than 10 units of FVIII per 100 units vWF:RCoF. Patients with type 2N were analysed separately. With the exception of gastro-intestinal bleedings, spontaneous bleedings were generally stopped after few infusions of 40-47 U kg-1 vWF:RCoF. Patients having more than 20 U dL-1 FVIII were treated on 54 surgical occasions with one preoperative infusion (51-55 U kg-1 vWF:RCoF) which allowed an increase in FVIII concentration to a mean level of 67-88 U dL-1. Patients with less than 20 U dL-1 were either treated with two preoperative infusions of vWF, 12 or 24 h apart (11 cases) or received a FVIII injection immediately after the preoperative infusion of vWF (10 cases). During the postoperative period vWF alone (30-35 U kg-1 vWF:RCoF) allowed FVIII to be kept at a mean level of 118-138 U dL-1 not exceeding 180 U dL-1. Patients with type 2N were treated taking in account only their baseline FVIII concentration. No haemorrhagic complications occurred in any of the patients. Thus it was found to be feasible and practical to manage replacement therapy in patients with von Willebrand disease (whatever the type or the circumstances) on the basis of the vWF:RCoF activity of the concentrate.

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Section: Minor Surgery (N = 8)mentioning

confidence: 82%

Clinical management of patients with von Willebrand’s disease with a VHP vWF concentrate: the French experience

Goudemand¹,

Négrier²,

Ounnoughène³

et al. 1998

Haemophilia

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“…This type of VWD is caused by mutations in the VWF gene at the FVIII-VWF binding site and is able to mimic both moderate and mild hemophilia A. 10,11 As VWF protects FVIII from proteolytic degradation, mutations in the binding site result in excessive FVIII clearance and therefore low FVIII:C plasma concentrations. 12 VWD type 2N can be excluded or diagnosed by a FVIII-VWF binding assay.…”

Section: Discussionmentioning

confidence: 99%

Pitfalls in the diagnosis of hemophilia severity: What to do?

Moort

Joosten

Maat

et al. 2016

Pediatr Blood Cancer

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Measurements of factor VIII coagulation activity (FVIII:C) may vary and result in misclassification of hemophilia A with delay in initiation of prophylactic treatment. We describe two young brothers who were diagnosed as moderate hemophilia patients and therefore not prophylactically treated with factor VIII concentrate despite frequent bleeding events. These findings emphasize the importance of (i) multiple measurements of FVIII:C by certified laboratories, (ii) adjustment of treatment when test results do not correspond to clinical symptoms, (iii) relevance of additional DNA mutation analysis in patients with hemophilia A, and (iv) treatment in centers with expertise.

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“…It therefore resembles haemophilia A, but its inheritance pattern is not X-linked but autosomal dominant. Low FVIII levels, at variance with haemophilia, are due to decreased plasma half-life of FVIII which cannot bind to vWF, as a consequence of an intrinsic abnormality of vWF [25,26].…”

Section: Type 2 Vwdmentioning

confidence: 99%

Diagnosis and management of von Willebrand disease

Federici

Mannucci

1999

Haemophilia

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von Willebrand disease (vWD) is a bleeding disorder caused by quantitative or qualitative defects of von Willebrand factor (vWF). The diagnosis is based on measurements of plasma and platelet vWF, the ability of vWF to interact with its platelet receptor and the analysis of the mutlimeric composition of vWF. Due to the heterogeneity of vWF defects, a correct diagnosis of types and subtypes may be sometimes difficult but is very important for an appropriate therapy. The aim of treatment is to correct the dual defects of haemostasis, i.e. abnormal coagulation expressed by low levels of factor VIII (FVIII) and abnormal platelet adhesion expressed by a prolonged bleeding time (BT). Desmopressin is the treatment of choice in patients with type 1 vWD, who account for approximately 80% of cases, because it corrects the FVIII/vWF levels and the prolonged BT in most of these patients. In type 3 and in the majority of type 2 vWD patients, desmopressin is not effective and it is necessary to resort to plasma concentrates containing FVIII and vWF. Treated with virucidal methods, these concentrates are effective and currently safe, but the BT defect is not always corrected by them. Platelet concentrates or desmopressin can be used as adjunctive treatments when poor correction of the BT after concentrates is associated with continued bleeding.

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A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction

Cited by 150 publications

References 35 publications

Clinical management of patients with von Willebrand’s disease with a VHP vWF concentrate: the French experience

Clinical management of patients with von Willebrand’s disease with a VHP vWF concentrate: the French experience

Pitfalls in the diagnosis of hemophilia severity: What to do?

Diagnosis and management of von Willebrand disease

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