PortalPublikationenLaboratory diagnosis of congenital von Willebrand disease

Laboratory diagnosis of congenital von Willebrand disease

Standard

Laboratory diagnosis of congenital von Willebrand disease. / Budde, Ulrich; Drewke, Elke; Mainusch, Kerstin; Schneppenheim, Reinhard.

in: SEMIN THROMB HEMOST, Jahrgang 28, Nr. 2, 01.04.2002, S. 173-90.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Budde, U, Drewke, E, Mainusch, K & Schneppenheim, R 2002, 'Laboratory diagnosis of congenital von Willebrand disease', SEMIN THROMB HEMOST, Jg. 28, Nr. 2, S. 173-90. https://doi.org/10.1055/s-2002-27820

APA

Budde, U., Drewke, E., Mainusch, K., & Schneppenheim, R. (2002). Laboratory diagnosis of congenital von Willebrand disease. SEMIN THROMB HEMOST, 28(2), 173-90. https://doi.org/10.1055/s-2002-27820

Vancouver

Budde U, Drewke E, Mainusch K, Schneppenheim R. Laboratory diagnosis of congenital von Willebrand disease. SEMIN THROMB HEMOST. 2002 Apr 1;28(2):173-90. https://doi.org/10.1055/s-2002-27820

Bibtex

@article{6f6a7475584b4f1b8692fb07a26d0ab3,
title = "Laboratory diagnosis of congenital von Willebrand disease",
abstract = "Von Willebrand disease (vWD) is caused by quantitative or qualitative defects, or both, of the von Willebrand factor (vWF), a multimeric high-molecular glycoprotein (GP). Typically, it affects the primary hemostatic system, which is reflected by a mucocutaneous bleeding tendency simulating a platelet function defect. The vWF promotes its function in two ways: (1) by supporting platelet adhesion to the injured vessel wall under conditions of high shear forces and (2) by its carrier function for factor VIIIc (FVIIIc) in plasma. Because of the complexity of the disease, diagnosis of vWD is one of the most challenging of any coagulation disorder. The stepwise diagnosis of vWD includes patients and family history, screening procedures (bleeding time [BT], filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (vWF antigen [vWF:Ag], vWF ristocetin cofactor activity [vWF:RCo], vWF collagen-binding [vWF:CB] assay, ristocetin-induced platelet aggregation [RIPA], FVIIIc) and tests for final classification (multimeric analysis, FVIII binding capacity of vWF [vWF:FVIIIB], platelet vWF). In 1999, we classified 303 patients with congenital vWD as type 1 (n = 122), type 2 (n = 171), and type 3 (n = 10). Type 2 was further subdivided into type 2A (n = 126), type 2B (n = 17), type 2M (n = 22), and type 2N (n = 6). Type 2A showed a remarkable heterogeneity, with only 27.8% (n = 36) of the {"}classic{"} IIA pattern. The other high-frequency patterns were type IB (25.4% n = 32) and type IIE/F/H-like structural abnormalities (28.6% n = 36). The spectrum was completed with samples from patients with types 2D, 2C, 2C Miami, smeary structures, and other rare subtypes (together 18.9% n = 23).",
keywords = "Clinical Laboratory Techniques, Dimerization, Factor VIII, Family Health, Humans, Molecular Probe Techniques, von Willebrand Diseases, von Willebrand Factor",
author = "Ulrich Budde and Elke Drewke and Kerstin Mainusch and Reinhard Schneppenheim",
year = "2002",
month = apr,
day = "1",
doi = "10.1055/s-2002-27820",
language = "English",
volume = "28",
pages = "173--90",
journal = "SEMIN THROMB HEMOST",
issn = "0094-6176",
publisher = "Thieme Medical Publishers",
number = "2",

}

RIS

TY - JOUR

T1 - Laboratory diagnosis of congenital von Willebrand disease

AU - Budde, Ulrich

AU - Drewke, Elke

AU - Mainusch, Kerstin

AU - Schneppenheim, Reinhard

PY - 2002/4/1

Y1 - 2002/4/1

N2 - Von Willebrand disease (vWD) is caused by quantitative or qualitative defects, or both, of the von Willebrand factor (vWF), a multimeric high-molecular glycoprotein (GP). Typically, it affects the primary hemostatic system, which is reflected by a mucocutaneous bleeding tendency simulating a platelet function defect. The vWF promotes its function in two ways: (1) by supporting platelet adhesion to the injured vessel wall under conditions of high shear forces and (2) by its carrier function for factor VIIIc (FVIIIc) in plasma. Because of the complexity of the disease, diagnosis of vWD is one of the most challenging of any coagulation disorder. The stepwise diagnosis of vWD includes patients and family history, screening procedures (bleeding time [BT], filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (vWF antigen [vWF:Ag], vWF ristocetin cofactor activity [vWF:RCo], vWF collagen-binding [vWF:CB] assay, ristocetin-induced platelet aggregation [RIPA], FVIIIc) and tests for final classification (multimeric analysis, FVIII binding capacity of vWF [vWF:FVIIIB], platelet vWF). In 1999, we classified 303 patients with congenital vWD as type 1 (n = 122), type 2 (n = 171), and type 3 (n = 10). Type 2 was further subdivided into type 2A (n = 126), type 2B (n = 17), type 2M (n = 22), and type 2N (n = 6). Type 2A showed a remarkable heterogeneity, with only 27.8% (n = 36) of the "classic" IIA pattern. The other high-frequency patterns were type IB (25.4% n = 32) and type IIE/F/H-like structural abnormalities (28.6% n = 36). The spectrum was completed with samples from patients with types 2D, 2C, 2C Miami, smeary structures, and other rare subtypes (together 18.9% n = 23).

AB - Von Willebrand disease (vWD) is caused by quantitative or qualitative defects, or both, of the von Willebrand factor (vWF), a multimeric high-molecular glycoprotein (GP). Typically, it affects the primary hemostatic system, which is reflected by a mucocutaneous bleeding tendency simulating a platelet function defect. The vWF promotes its function in two ways: (1) by supporting platelet adhesion to the injured vessel wall under conditions of high shear forces and (2) by its carrier function for factor VIIIc (FVIIIc) in plasma. Because of the complexity of the disease, diagnosis of vWD is one of the most challenging of any coagulation disorder. The stepwise diagnosis of vWD includes patients and family history, screening procedures (bleeding time [BT], filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (vWF antigen [vWF:Ag], vWF ristocetin cofactor activity [vWF:RCo], vWF collagen-binding [vWF:CB] assay, ristocetin-induced platelet aggregation [RIPA], FVIIIc) and tests for final classification (multimeric analysis, FVIII binding capacity of vWF [vWF:FVIIIB], platelet vWF). In 1999, we classified 303 patients with congenital vWD as type 1 (n = 122), type 2 (n = 171), and type 3 (n = 10). Type 2 was further subdivided into type 2A (n = 126), type 2B (n = 17), type 2M (n = 22), and type 2N (n = 6). Type 2A showed a remarkable heterogeneity, with only 27.8% (n = 36) of the "classic" IIA pattern. The other high-frequency patterns were type IB (25.4% n = 32) and type IIE/F/H-like structural abnormalities (28.6% n = 36). The spectrum was completed with samples from patients with types 2D, 2C, 2C Miami, smeary structures, and other rare subtypes (together 18.9% n = 23).

KW - Clinical Laboratory Techniques

KW - Dimerization

KW - Factor VIII

KW - Family Health

KW - Humans

KW - Molecular Probe Techniques

KW - von Willebrand Diseases

KW - von Willebrand Factor

U2 - 10.1055/s-2002-27820

DO - 10.1055/s-2002-27820

M3 - SCORING: Journal article

C2 - 11992241

VL - 28

SP - 173

EP - 190

JO - SEMIN THROMB HEMOST

JF - SEMIN THROMB HEMOST

SN - 0094-6176

IS - 2

ER -