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Autosomal dominant von Willebrand disease type 2M.
Acta Haematol. 2009; 121(2-3):139-44.AH

Abstract

von Willebrand disease (VWD) type 2M is a distinct entity and clearly differs from type 1. The genotype-phenotype correlation for cases with ristocetin cofactor activity (RCo)/antigen (Ag) ratios <0.60 is clear, whereas the von Willebrand factor (VWF):collagen binding (CB)/VWF:Ag ratio is normal in VWD 2M. Typical laboratory features of VWD type 2 M are decreased ristocetin-induced platelet aggregation in the presence of a normal or near normal VWF multimeric pattern on a low-resolution agarose gel, a poor response to desmopressin (DDAVP) of VWF:RCo, and a good response of both VWF:CB and VWF:Ag to DDAVP. The phenotypic definition of VWD type 2M may need to be more stringent and should be the subject of an international standardization initiative.

Authors+Show Affiliations

Hemostasis and Thrombosis Center, Hemophilia Clinic, St. Luc University Hospital, Avenue Hippocrate 10, Brussels, Belgium. cedric.hermans@uclouvain.beNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

19506360

Citation

Hermans, Cedric, and Javier Batlle. "Autosomal Dominant Von Willebrand Disease Type 2M." Acta Haematologica, vol. 121, no. 2-3, 2009, pp. 139-44.
Hermans C, Batlle J. Autosomal dominant von Willebrand disease type 2M. Acta Haematol. 2009;121(2-3):139-44.
Hermans, C., & Batlle, J. (2009). Autosomal dominant von Willebrand disease type 2M. Acta Haematologica, 121(2-3), 139-44. https://doi.org/10.1159/000214854
Hermans C, Batlle J. Autosomal Dominant Von Willebrand Disease Type 2M. Acta Haematol. 2009;121(2-3):139-44. PubMed PMID: 19506360.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant von Willebrand disease type 2M. AU - Hermans,Cedric, AU - Batlle,Javier, Y1 - 2009/06/08/ PY - 2009/6/10/entrez PY - 2009/6/10/pubmed PY - 2009/7/7/medline SP - 139 EP - 44 JF - Acta haematologica JO - Acta Haematol VL - 121 IS - 2-3 N2 - von Willebrand disease (VWD) type 2M is a distinct entity and clearly differs from type 1. The genotype-phenotype correlation for cases with ristocetin cofactor activity (RCo)/antigen (Ag) ratios <0.60 is clear, whereas the von Willebrand factor (VWF):collagen binding (CB)/VWF:Ag ratio is normal in VWD 2M. Typical laboratory features of VWD type 2 M are decreased ristocetin-induced platelet aggregation in the presence of a normal or near normal VWF multimeric pattern on a low-resolution agarose gel, a poor response to desmopressin (DDAVP) of VWF:RCo, and a good response of both VWF:CB and VWF:Ag to DDAVP. The phenotypic definition of VWD type 2M may need to be more stringent and should be the subject of an international standardization initiative. SN - 1421-9662 UR - https://www.unboundmedicine.com/medline/citation/19506360/Autosomal_dominant_von_Willebrand_disease_type_2M_ L2 - https://www.karger.com?DOI=10.1159/000214854 DB - PRIME DP - Unbound Medicine ER -