Phenotypic and genotypic diagnosis of von Willebrand disease

TY - JOUR

T1 - Phenotypic and genotypic diagnosis of von Willebrand disease

T2 - a 2004 update

AU - Schneppenheim, Reinhard

AU - Budde, Ulrich

PY - 2005/1

Y1 - 2005/1

N2 - In the last two decades, progress in the diagnosis of von Willebrand disease (VWD) came from the rapidly developing field of molecular techniques that allowed the first phenotype-genotype correlations. In particular, structural and functional defects of von Willebrand factor (VWF) that underlie VWD type 2 and their molecular basis not only helped to understand the pathophysiology of VWD but also the complex post-translation processing of VWF and the multiple VWF functions. In contrast to the dramatic development of molecular techniques, improvement of methods for phenotypic description, a prerequisite for phenotype-genotype comparisons, has been neglected. The gold standard to differentiate VWD type 2 from type 1 and between diverse type 2 subtypes is the electrophoretic analysis of VWF multimers, a demanding technique that itself is not easily standardized but of crucial relevance for correct classification. This article summarizes the current knowledge on phenotype-genotype correlations as well as up-to-date phenotypic and genotypic methods in the diagnosis of VWD.

AB - In the last two decades, progress in the diagnosis of von Willebrand disease (VWD) came from the rapidly developing field of molecular techniques that allowed the first phenotype-genotype correlations. In particular, structural and functional defects of von Willebrand factor (VWF) that underlie VWD type 2 and their molecular basis not only helped to understand the pathophysiology of VWD but also the complex post-translation processing of VWF and the multiple VWF functions. In contrast to the dramatic development of molecular techniques, improvement of methods for phenotypic description, a prerequisite for phenotype-genotype comparisons, has been neglected. The gold standard to differentiate VWD type 2 from type 1 and between diverse type 2 subtypes is the electrophoretic analysis of VWF multimers, a demanding technique that itself is not easily standardized but of crucial relevance for correct classification. This article summarizes the current knowledge on phenotype-genotype correlations as well as up-to-date phenotypic and genotypic methods in the diagnosis of VWD.

KW - Genotype

KW - Humans

KW - Molecular Diagnostic Techniques

KW - Phenotype

KW - von Willebrand Diseases

KW - von Willebrand Factor

M3 - SCORING: Journal article

C2 - 15662612

VL - 42

SP - 15

EP - 28

JO - SEMIN HEMATOL

JF - SEMIN HEMATOL

SN - 0037-1963

IS - 1

ER -