Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification

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Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification. / Budde, Ulrich; Pieconka, Antje; Will, Kirsten; Schneppenheim, Reinhard.

in: SEMIN THROMB HEMOST, Jahrgang 32, Nr. 5, 07.2006, S. 514-21.

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@article{0c15b5f4da5248c2840ef5c9ddc681a2,
title = "Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification",
abstract = "The stepwise diagnosis of von Willebrand disease (vWD) includes patient and family history, screening procedures (bleeding time, filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (von Willebrand factor [vWF]:antigen [Ag], vWF:ristocetin cofactor activity assay [RCo], vWF:collagen-binding test [CB], ristocetin-induced platelet agglutination [RIPA], and factor [F] VIII:coagulant activity [C]) and tests for final classification (multimeric analysis, vWF:factor VIII binding, and platelet vWF). Accumulating knowledge of the different clinical phenotypes and the pathophysiological basis of the disease have been translated into a classification that differentiates between quantitative and qualitative defects by means of quantitative and functional parameters and by analyzing the electrophoretic pattern of vWF multimers, but without inclusion of the genotype. Recently, it has been shown that with a sensitive method of multimer analysis, a > 90% genotype-phenotype relation may be achieved in the near future.",
keywords = "Clinical Laboratory Techniques, Collagen, Factor VIII, Humans, Protein Subunits, Sensitivity and Specificity, von Willebrand Diseases, von Willebrand Factor",
author = "Ulrich Budde and Antje Pieconka and Kirsten Will and Reinhard Schneppenheim",
year = "2006",
month = jul,
doi = "10.1055/s-2006-947866",
language = "English",
volume = "32",
pages = "514--21",
journal = "SEMIN THROMB HEMOST",
issn = "0094-6176",
publisher = "Thieme Medical Publishers",
number = "5",

}

RIS

TY - JOUR

T1 - Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification

AU - Budde, Ulrich

AU - Pieconka, Antje

AU - Will, Kirsten

AU - Schneppenheim, Reinhard

PY - 2006/7

Y1 - 2006/7

N2 - The stepwise diagnosis of von Willebrand disease (vWD) includes patient and family history, screening procedures (bleeding time, filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (von Willebrand factor [vWF]:antigen [Ag], vWF:ristocetin cofactor activity assay [RCo], vWF:collagen-binding test [CB], ristocetin-induced platelet agglutination [RIPA], and factor [F] VIII:coagulant activity [C]) and tests for final classification (multimeric analysis, vWF:factor VIII binding, and platelet vWF). Accumulating knowledge of the different clinical phenotypes and the pathophysiological basis of the disease have been translated into a classification that differentiates between quantitative and qualitative defects by means of quantitative and functional parameters and by analyzing the electrophoretic pattern of vWF multimers, but without inclusion of the genotype. Recently, it has been shown that with a sensitive method of multimer analysis, a > 90% genotype-phenotype relation may be achieved in the near future.

AB - The stepwise diagnosis of von Willebrand disease (vWD) includes patient and family history, screening procedures (bleeding time, filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (von Willebrand factor [vWF]:antigen [Ag], vWF:ristocetin cofactor activity assay [RCo], vWF:collagen-binding test [CB], ristocetin-induced platelet agglutination [RIPA], and factor [F] VIII:coagulant activity [C]) and tests for final classification (multimeric analysis, vWF:factor VIII binding, and platelet vWF). Accumulating knowledge of the different clinical phenotypes and the pathophysiological basis of the disease have been translated into a classification that differentiates between quantitative and qualitative defects by means of quantitative and functional parameters and by analyzing the electrophoretic pattern of vWF multimers, but without inclusion of the genotype. Recently, it has been shown that with a sensitive method of multimer analysis, a > 90% genotype-phenotype relation may be achieved in the near future.

KW - Clinical Laboratory Techniques

KW - Collagen

KW - Factor VIII

KW - Humans

KW - Protein Subunits

KW - Sensitivity and Specificity

KW - von Willebrand Diseases

KW - von Willebrand Factor

U2 - 10.1055/s-2006-947866

DO - 10.1055/s-2006-947866

M3 - SCORING: Journal article

C2 - 16862525

VL - 32

SP - 514

EP - 521

JO - SEMIN THROMB HEMOST

JF - SEMIN THROMB HEMOST

SN - 0094-6176

IS - 5

ER -