Type 2M von Willebrand disease: a variant of type 2A?

Batlle, J.; Pérez‐Rodríguez, Almudena; Franqueira, M. D.; López-Fernández, Maŕıa

doi:10.1111/j.1538-7836.2008.02853.x

Cited by 6 publications

(1 citation statement)

References 16 publications

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“…Recommended supplemental tests [1][2][3][4] are platelet function analysis (PFA-100), ristocetin-induced platelet aggregometry (RIPA), derived VWF:RCo/VWF:Ag and FVIII/VWF:Ag ratios, VWF collagen binding (VWF:CB), capacity of VWF to bind exogenous FVIII (VWF:FVIIIB), in conjunction with plasma multimeric analysis. These tests are particularly important for an accurate diagnosis of VWD type 2 types [6][7][8][9][10]. The role of genetic analysis in the routine diagnostic procedures of VWD remains controversial [11].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies

et al. 2014

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Diagnostics of von Willebrand disease (VWD) includes assessment of factor VIII (FVIII) coagulant activity, von Willebrand factor (VWF) antigen (VWF:Ag) and VWF ristocetin cofactor activity (VWF:RCo), and more specific tests as multimeric and genetic analyses are necessary for the correct VWD classification. The ACL AcuStar analyzer introduces chemiluminescence (CL) technology in detection of VWD with automated VWF:Ag and VWF:RCo assays. Compare VWF:Ag-ELISA and VWF:RCo by aggregometry conventional assays with new CL VWF:Ag-IL and VWF:RCo-IL assays, investigate the ability to make accurate VWD diagnosis and concordance with multimeric and genetic analyses. 146 patients with congenital VWD (51 Type 1; 34 Type 2A; 16 Type 2B; 31 Type 2M; 5 Type 2N; 9 Type 3) and 30 healthy normal subjects were included. A comparison was made between CL and conventional methods. Diagnostic evaluation included: VWF:RCo/VWF:Ag ratio, multimeric distribution (sodium dodecyl sulfate [SDS]-agarose gel) of VWF and genetic analysis in 110 of 146 patients. CL and conventional methods revealed good correlation. Kappa test agreement diagnosis was >0.8. CL diagnostic sensitivity was 100% and specificity 97%. Multimeric and genetic analysis were of help in clarifying 13 discrepancies of diagnosis between methods, of which six discrepancies were explained by lack of conventional methods′ sensibility. CL methodology can detect VWD and discriminate between type 1, 3 and variant forms and offers an automated, faster, sensitive and less cumbersome method when compared to conventional assays, in particular VWF:RCo by aggregometry. In some cases, even with all phenotype and genetic analyses, discrepancies exist in the classification of VWD.

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Section: Introductionmentioning

confidence: 99%

Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies

et al. 2014

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Classification of von Willebrand Disease

Batlle

Pérez‐Rodríguez

López-Fernández

2011

Von Willebrand Disease

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Different bleeding risk in type 2A and 2M von Willebrand disease: a 2‐year prospective study in 107 patients

Castaman

Federici

Tosetto

et al. 2012

Journal of Thrombosis and Haemostasis

122

121

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Summary. Background: Type 2A and 2M von Willebrand disease (VWD2A and VWD2M) are characterized by the presence of a dysfunctional von Willebrand factor (VWF) and a variable bleeding tendency. So far, a head-to-head comparison of the clinical history and bleeding risk between VWD2A and VWD2M has never been provided in a prospective manner. Aim of the study: We assessed the bleeding incidence rate and clinical characteristics in two cohorts of 17 families (46 patients) with VWD2A and 15 families (61 patients) with VWD2M prospectively followed-up for 24 months. VWF gene mutations were characterized in all of them. Results: Mean bleeding score (BS) and VWF antigen at enrollment were significantly higher in VWD2A patients (P = 0.007). No correlation between VWF activity or factor VIII levels and the severity of BS was observed. The incidence rate of spontaneous bleeding requiring treatment was 107/100 patient-years (95% CI, 88.3-131) in VWD2A compared with 40/ 100 patient-years (95% CI, 30-53) in VWD2M (P < 0.001). The risk of bleeding was significantly higher in patients with BS ‡ 10 at enrollment compared with those with BS 0-2. Furthermore, 54 episodes of gastrointestinal bleeding occurred in 17/46 (36.9%) VWD2A patients and seven in 2/61 (3.3%) VWD2M patients (P < 0.0001). Conclusion: Bleeding tendency in VWD2A is greater than that of VWD2M, is not explained by factor VIII or VWF levels and is mainly due to an increased incidence of gastrointestinal bleeding.

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Type 2M von Willebrand disease: a variant of type 2A?

Cited by 6 publications

References 16 publications

Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies

Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies

Classification of von Willebrand Disease

Different bleeding risk in type 2A and 2M von Willebrand disease: a 2‐year prospective study in 107 patients

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