Postanalytical considerations that may improve the diagnosis or exclusion of haemophilia and von Willebrand disease

Haemophilia. 2018 Nov;24(6):849-861. doi: 10.1111/hae.13587. Epub 2018 Jul 19.

Abstract

von Willebrand disease (VWD) and haemophilia represent the most common inherited or acquired bleeding disorders. However, many laboratories and clinicians may be challenged by their accurate diagnosis or exclusion. Difficulties in diagnosis/exclusion may include analytical issues, where assays occasionally generate an incorrect result (ie representing an analytical error) or have limitations in their measurement range of and/or low analytical sensitivity. Also increasingly recognized is the influence of preanalytical issues on the diagnosis of VWD or haemophilia. Unfortunately, postanalytical considerations are often not well considered in the diagnostic process. Therefore, this narrative review aims to provide an overview of some important postanalytical considerations that may help improve the diagnosis of VWD and haemophilia. This review primarily discusses aspects around reporting of test results. However, we also discuss other less well-recognized postanalytical considerations, including the use of assay ratios to help identify differential diagnoses and then guide further investigation.

Keywords: diagnosis; haemophilia; misdiagnosis; postanalytical,; von Willebrand disease.

Publication types

  • Review

MeSH terms

  • Blood Coagulation Tests / methods*
  • Diagnosis, Differential
  • Hemophilia A / diagnosis*
  • Humans
  • Research Design
  • von Willebrand Diseases / diagnosis*