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Title: Distinguishing types 1 and 2M von Willebrand disease
Authors: Forsyth, Cecily J ;Favaloro, E.J.;Koutts, J.
Issue Date: Feb-2012
Source: Volume 34, Issue 1, pp. 102 - 105
Journal title: International Journal of Laboratory Hematology
Abstract: Discrimination of types 1 and 2M von Willebrand disease (VWD) is problematic. Type 1 VWD represents a quantitative deficiency of von Willebrand factor and type 2M a qualitative disorder. 2M VWD is considered a potentially more serious bleeding disorder than type 1 VWD and may also require a differential management approach given the higher bleeding risk and that desmopressin may be less effective. We describe a case of 2M VWD 'masquerading' as type 1 and show how the differential diagnosis can be obtained using standard laboratory assays. The case was genetically confirmed as a 3943C>T mutation, leading to R1315C.
DOI: 10.1111/j.1751-553X.2011.01362.x
ISSN: 1751-5521
Publicaton type: Journal Article
Keywords: Haematology
Appears in Collections:Haematology

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