Status and challenges after one hundred years with von Willebrand disease

Kathrine B Faldborg1, Dijana Terzic1, Theodor W Shalmi1

  • 1Department of Clinical Biochemistry, Rigshospitalet.

Insights

Von Willebrand disease (vWD), a common inherited bleeding disorder, is often undiagnosed in mild cases. Early identification and increased clinical awareness are crucial for timely diagnosis, especially in women who face diagnostic delays.

Area of Science:

  • Hematology
  • Genetics
  • Internal Medicine

Background:

  • Von Willebrand disease (vWD) is the most prevalent inherited bleeding disorder, recognized for a century.
  • A significant number of individuals with mild vWD remain undiagnosed.
  • Variable clinical manifestations complicate diagnosis for both patients and healthcare providers.

Purpose of the Study:

  • To highlight the challenges in diagnosing von Willebrand disease, particularly mild forms.
  • To emphasize the diagnostic delays experienced by patients, especially women.
  • To advocate for increased clinical awareness and earlier identification strategies.

Main Methods:

  • Review of clinical presentation and diagnostic criteria for vWD.
  • Analysis of factors contributing to diagnostic delays.
  • Examination of patient and family history in vWD detection.

Main Results:

  • Mild vWD cases are frequently missed, leading to delayed diagnosis.
  • Women experience disproportionately longer diagnostic delays despite increased bleeding symptom exposure.
  • Current diagnostic methods, including history and lab evaluation, can be challenging due to disease variability.

Conclusions:

  • Enhanced clinical awareness is essential for improving vWD diagnosis rates.
  • Earlier identification of undiagnosed individuals with vWD should be a priority.
  • Addressing diagnostic delays, particularly in women, is critical for effective management of inherited bleeding disorders.

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