von Willebrand disease: laboratory aspects of diagnosis and treatment

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E J Favaloro1, D Lillicrap, M A Lazzari

  • 1Institute of Clinical Pathology and Medical Research, Westmead, NSW 2145, Australia. emmanuel@icpmr.wsahs.nsw.gov.au

Haemophilia : the Official Journal of the World Federation of Hemophilia
|October 14, 2004
PubMed

Insights

Von Willebrand disease (VWD) is a common inherited bleeding disorder. Diagnosis requires history and lab tests, but Type 1 VWD may be overdiagnosed due to overlapping lab results.

Area of Science:

  • Hematology
  • Genetics
  • Clinical Medicine

Background:

  • Von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder.
  • VWD encompasses three main types (1, 2, and 3), with Type 2 further classified into subtypes (2A, 2B, 2M, 2N).
  • Accurate diagnosis is crucial, yet Type 1 VWD presents diagnostic challenges due to overlapping normal ranges.

Purpose of the Study:

  • To detail the clinical profile and diagnostic approaches for VWD in a South American patient cohort.
  • To evaluate the in vitro characteristics of available factor concentrates for VWD treatment.
  • To address the diagnostic complexities, particularly concerning potential overdiagnosis of Type 1 VWD.

Main Methods:

  • Review of patient histories (personal and family) for bleeding symptoms.
  • Laboratory analysis for VWD diagnosis confirmation.
  • In vitro assessment of factor concentrate properties.

Main Results:

  • The study characterized the clinical presentation and diagnostic findings in a South American VWD cohort.
  • Analysis revealed potential for overdiagnosis of Type 1 VWD.
  • In vitro data on factor concentrates were obtained.

Conclusions:

  • VWD diagnosis necessitates a combination of clinical history and laboratory confirmation.
  • Diagnostic challenges exist, especially for Type 1 VWD, requiring careful interpretation.
  • Understanding factor concentrate properties is vital for effective VWD management.

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