Chapter 34
Diagnosis of von Willebrand Disease
Emmanuel J. Favaloro PhD, FFSc (RCPA),
Jerry Koutts MD (Syd), BS, FRACP, FRCPA,
Emmanuel J. Favaloro PhD, FFSc (RCPA)
Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia
Search for more papers by this authorJerry Koutts MD (Syd), BS, FRACP, FRCPA
Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia
Search for more papers by this authorEmmanuel J. Favaloro PhD, FFSc (RCPA),
Jerry Koutts MD (Syd), BS, FRACP, FRCPA,
Emmanuel J. Favaloro PhD, FFSc (RCPA)
Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia
Search for more papers by this authorJerry Koutts MD (Syd), BS, FRACP, FRCPA
Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia
Search for more papers by this authorBook Editor(s):Kandice Kottke-Marchant MD, PhD,
Bruce H. Davis MD,
Kandice Kottke-Marchant MD, PhD
Pathology & Laboratory Medicine Institute, Cleveland, OH, USA
Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA
Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA
Search for more papers by this authorFirst published: 10 April 2012
Summary
von Willebrand disease (VWD), which is the most common inherited bleeding disorder, arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). VWD is classified into six types, with type 1 identifying a (partial) quantitative deficiency of VWF, type 3 defining a (virtual) total deficiency of VWF, and type 2 identifying four types (2A, 2B, 2M, and 2N) that are characterized by qualitative defects. The classification of VWD is based on phenotypic testing that includes factor VIII, VWF level, and VWF activity determined by ristocetin cofactor and/or collagen binding. Phenotypic testing may be supplemented by multimer analysis, ristocetin-induced platelet agglutination, and VWF:factor VIII binding. Although not required to diagnose VWD or for its classification, genetic analysis may be useful in discrete situations. The current review briefly covers this diagnostic process, with a focus on the newer approaches that include extended test panels and data from desmopressin challenges as a diagnostic tool.
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