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, Vol. 32, No. 5, 07.2006, p. 514-21.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -