Tags

Type your tag names separated by a space and hit enter

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Acta Haematol. 2009; 121(2-3):145-53.AH

Abstract

A complete set of laboratory investigations, including bleeding time, PFA-100 closure time, factor VIII coagulant activity (FVIII:C), von Willebrand factor (VWF) ristocetin cofactor activity (RCo), collagen binding (CB) and antigen concentration (Ag), ristocetin-induced platelet aggregation (RIPA) and multimeric analysis of VWF in low and medium SDS-agarose resolution gels, is warranted to diagnose and classify all variants of von Willebrand disease (VWD). VWD type 2M and 2U are typically characterized by decreased RIPA and a poor response of VWF:RCo to desmopressin (DDAVP), but normal VWF:CB and good responses of VWF:CB, VWF:Ag and FVIII:C to DDAVP. VWF multimeric analysis in patients with VWD 2M and 2U show relative decreases in large VWF multimers with less resolved triplet structure of each of the multimeric bands in low-, medium- or high-resolution gels. VWD type 2M or 2U are caused by a loss-of-function mutation in the A1 domain. The laboratory manifestations and molecular defects in the A1 domain causing VWD type 2M and 2U are clearly distinct from all variants of type 1 VWD and also from all other variants [VWD type 2A, 2B, 2E (IIE) and 2C (IIC)].

Authors+Show Affiliations

Hemostasis and Thrombosis Research Center, Antwerp University Hospital, Wilrijkstraat 10, Edegem, Belgium. alain.gadisseur@uza.beNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19506361

Citation

Gadisseur, Alain, et al. "Dominant Von Willebrand Disease Type 2M and 2U Are Variable Expressions of One Distinct Disease Entity Caused By Loss-of-function Mutations in the A1 Domain of the Von Willebrand Factor Gene." Acta Haematologica, vol. 121, no. 2-3, 2009, pp. 145-53.
Gadisseur A, van der Planken M, Schroyens W, et al. Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. Acta Haematol. 2009;121(2-3):145-53.
Gadisseur, A., van der Planken, M., Schroyens, W., Berneman, Z., & Michiels, J. J. (2009). Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. Acta Haematologica, 121(2-3), 145-53. https://doi.org/10.1159/000214855
Gadisseur A, et al. Dominant Von Willebrand Disease Type 2M and 2U Are Variable Expressions of One Distinct Disease Entity Caused By Loss-of-function Mutations in the A1 Domain of the Von Willebrand Factor Gene. Acta Haematol. 2009;121(2-3):145-53. PubMed PMID: 19506361.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. AU - Gadisseur,Alain, AU - van der Planken,Marc, AU - Schroyens,Wilfried, AU - Berneman,Zwi, AU - Michiels,Jan Jacques, Y1 - 2009/06/08/ PY - 2009/6/10/entrez PY - 2009/6/10/pubmed PY - 2009/7/7/medline SP - 145 EP - 53 JF - Acta haematologica JO - Acta Haematol. VL - 121 IS - 2-3 N2 - A complete set of laboratory investigations, including bleeding time, PFA-100 closure time, factor VIII coagulant activity (FVIII:C), von Willebrand factor (VWF) ristocetin cofactor activity (RCo), collagen binding (CB) and antigen concentration (Ag), ristocetin-induced platelet aggregation (RIPA) and multimeric analysis of VWF in low and medium SDS-agarose resolution gels, is warranted to diagnose and classify all variants of von Willebrand disease (VWD). VWD type 2M and 2U are typically characterized by decreased RIPA and a poor response of VWF:RCo to desmopressin (DDAVP), but normal VWF:CB and good responses of VWF:CB, VWF:Ag and FVIII:C to DDAVP. VWF multimeric analysis in patients with VWD 2M and 2U show relative decreases in large VWF multimers with less resolved triplet structure of each of the multimeric bands in low-, medium- or high-resolution gels. VWD type 2M or 2U are caused by a loss-of-function mutation in the A1 domain. The laboratory manifestations and molecular defects in the A1 domain causing VWD type 2M and 2U are clearly distinct from all variants of type 1 VWD and also from all other variants [VWD type 2A, 2B, 2E (IIE) and 2C (IIC)]. SN - 1421-9662 UR - https://www.unboundmedicine.com/medline/citation/19506361/Dominant_von_Willebrand_disease_type_2M_and_2U_are_variable_expressions_of_one_distinct_disease_entity_caused_by_loss_of_function_mutations_in_the_A1_domain_of_the_von_Willebrand_factor_gene_ L2 - https://www.karger.com?DOI=10.1159/000214855 DB - PRIME DP - Unbound Medicine ER -