Von Willebrand Factor Multimeric Assay in Acquired von Willebrand Disease Diagnosis: A Report of Experience from North Estonia Medical Centre

Abstract

Objectives Acquired von Willebrand syndrome (AVWS) is a rare and frequently underdiagnosed bleeding disorder with an unknown prevalence. The diagnosis of AVWS is made based on laboratory investigations and the presence of clinical symptoms. Evaluation and management of affected patients are complex due to the need for multiple laboratory assays. Materials and Methods Here, we describe the clinical and laboratory data of seven patients with a diagnosis of AVWS. All patients met the criteria for AVWS based on laboratory findings, bleeding symptoms, and the absence of any previous history of a bleeding disorder. Results In all cases, the laboratory findings, lack of bleeding anamnesis, and family history suggested the presence of AVWS. Von Willebrand factor multimeric analysis showed decreased high-molecular weight (HMW) multimers in six cases. Patients with lower HMW multimers experienced more severe bleeding complications. Conclusions The diagnosis of AVWS is complex and requires extensive laboratory evaluation. Interdisciplinary collaboration and complex laboratory evaluations are of paramount importance for the early recognition of AVWS and optimal AVWS diagnosis as well as successful clinical management.

Acquired von Willebrand Syndrome in a Patient with Multiple Comorbidities, Including MALT Lymphoma with IgA Monoclonal Gammopathy and Hyperviscosity Syndrome

“…Our patient had hypothyroidism, which is a well-known underlying disease that causes type 1-like aVWS in association with a decrease in the synthesis of VWF; however, replacement of thyroid hormone did not improve APTT (data not shown), thus ruling out the involvement of hypothyroidism in the development of aVWS in this case. In addition, Pikta et al reported that the proportion of HMWM was 61.2% (approximately twice that of this case) in aVWS that developed in association with autoimmune thyroiditis (35).…”

Acquired von Willebrand Syndrome in a Patient Undergoing Extracorporeal Membrane Oxygenation: A Case Report

“…vWF multimer analysis using agarose gel electrophoresis is currently the most sensitive and specific method for diagnosing AvWS. It is possible to visualize the different sizes of the vWF multimers and detect any abnormalities in their distributions [16]. In the current patient, the diagnosis of AvWS was based on the lack of HMWMs and a decreased vWF:RCo/vWF:Ag ratio.…”

Guideline for laboratory diagnosis and monitoring of von Willebrand disease: A joint guideline from the United Kingdom Haemophilia Centre Doctors' Organisation and the British Society for Haematology

“…72 It must be noted that in some individuals, reduced ratios can be calculated despite normal VWF activity and VWF:Ag levels; this has been reported in type 2B VWD 73 and AVWS. 74 We suggest that if laboratories report activity-to-antigen ratios that they are reported without a reference range.…”

“…A recent meta‐analysis of studies examining VWF levels in the diagnosis of VWD has suggested that a cut‐off of <0.7 is more appropriate than a cut‐off of either <0.5 or <0.6 72 . It must be noted that in some individuals, reduced ratios can be calculated despite normal VWF activity and VWF:Ag levels; this has been reported in type 2B VWD 73 and AVWS 74 …”