von Willebrand Disease

OVERVIEW

  • commonest inherited coagulation disorder (autosomal dominant)
  • protein involved in (1) platelet adhesion and (2) carriage of factor VIII
  • leads to: factor VIII deficiency, abnormal platelet adhesiveness and abnormal vascular endothelium

TYPES

1. quantitative reduction in von Willebrand factor (vWF) (90% of cases)
2. qualitative abnormality in vWF (9%) – 5 subtypes (DDAVP contraindicated in 2B)
3. similar to type 1 but a severe autosomal recessive form (1%)

CLINICAL FEATURES

Presentation

  • asymptomatic
  • epistaxis
  • bruising
  • haemarthrosis
  • haematoma
  • menorrhagia

Previous and/or family history of the above

INVESTIGATIONS

  • normal platelet count
  • prolonged bleeding time
  • impaired ristocetin induced platelet aggregation
  • reduced factor VIII activity
  • INR normal
  • APTT increased
  • fibrinogen normal
  • vWB factor level decreased
  • increased platelet functional assay time

MANAGEMENT

  • define responders and non-responders to DDAVP (0.3mcg/kg over 30min IV)
    -> measurement of vWF level pre and post.
  • operations:
    — responders should have DDAVP for prophylaxis and bleeding
    — non-responders should have factor VIII concentrates or cryoprecipitate, can also use tranexamic acid 20mg/kg IV TDS
  • avoid antiplatelet drugs

References and Links


CCC 700 6

Critical Care

Compendium

Chris is an Intensivist and ECMO specialist at the Alfred ICU in Melbourne. He is also the Innovation Lead for the Australian Centre for Health Innovation at Alfred Health and Clinical Adjunct Associate Professor at Monash University. He is a co-founder of the Australia and New Zealand Clinician Educator Network (ANZCEN) and is the Lead for the ANZCEN Clinician Educator Incubator programme. He is on the Board of Directors for the Intensive Care Foundation and is a First Part Examiner for the College of Intensive Care Medicine. He is an internationally recognised Clinician Educator with a passion for helping clinicians learn and for improving the clinical performance of individuals and collectives.

After finishing his medical degree at the University of Auckland, he continued post-graduate training in New Zealand as well as Australia’s Northern Territory, Perth and Melbourne. He has completed fellowship training in both intensive care medicine and emergency medicine, as well as post-graduate training in biochemistry, clinical toxicology, clinical epidemiology, and health professional education.

He is actively involved in in using translational simulation to improve patient care and the design of processes and systems at Alfred Health. He coordinates the Alfred ICU’s education and simulation programmes and runs the unit’s education website, INTENSIVE.  He created the ‘Critically Ill Airway’ course and teaches on numerous courses around the world. He is one of the founders of the FOAM movement (Free Open-Access Medical education) and is co-creator of litfl.com, the RAGE podcast, the Resuscitology course, and the SMACC conference.

His one great achievement is being the father of two amazing children.

On Twitter, he is @precordialthump.

| INTENSIVE | RAGE | Resuscitology | SMACC

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