Overview

Von Willebrand disease (vWD) is the most common inherited coagulopathy. It is mostly inherited in an autosomal dominant manner.

Von Willebrand’s factor (vWF) is normally made in the endothelium of blood vessels. It attracts platelets to the site of damage and binds to factor VIII and prevents its clearance from the plasma. In vWD, there is a deficiency or abnormal function of vWF.

Epidemiology

  • More common in women
  • Most patients have a mild form of the disease
  • Prevalence is around 1-2%

Risk Factors

  • Family history

Example History

A 22-year-old woman has recurrent nosebleeds and bruises on her arms and legs. She is apyrexial and denies any trauma, fevers, night sweats, or unexplained weight loss. Her mother had a similar problem and as a child, the patient spent a lot longer having dental procedures due to prolonged bleeding.

Investigations:

Haemoglobin:135 g/L(130 – 165 g/L)
Platelets:240 x 109/L(150 – 450 x 109/L)
White blood cells (WBC):6.3 x 109/L(3.0 – 10.0 x 109/L)
Prothrombin time (PT):10 s(10 – 12 s)
Activated partial thromboplastin time (APTT):43 s(22 – 41 s)

Presentation

Patients usually present with prolonged bleeding or recurrent nosebleeds. Features may be:

  • Easy bleeding and bruising
  • Family history of easy bleeding or bruising
  • Menorrhagia
  • Recurrent nosebleeds – these may be heavy
  • Bleeding gums when brushing teeth

Differential Diagnoses

Haemophilia A or B

  • vWD is inherited in an autosomal dominant manner, haemophilia A and B are x-linked recessive
  • Patients with vWD have normal factor VIII and factor IX levels

Investigations

All patients

  • Full blood count:
    • Normal
  • Coagulation screen:
    • Prothrombin time (PT): normal
    • Activated partial thromboplastin time (APTT): may be prolonged
    • Bleeding time: prolonged
    • Factor VIII activity may be decreased
  • vWF antigen and factor function assay:
    • Diagnostic tests

Management

Overview

  • Mild bleeding: tranexamic acid
  • Desmopressin can stimulate the release of vWF
  • Active severe haemorrhage: vWF concentrate + factor VIII

Monitoring

  • Patients with chronic bleeding have blood tests for iron studies and consideration of iron replacement.

Patient Advice

  • Patients should avoid NSAIDs and antiplatelets as these can worsen bleeding
  • Due to the hereditary nature of vWD, people should be counselled on the likelihood of children being affected

Complications

Prognosis

  • Most patients lead relatively normal lives with intermittent acute treatment for active bleeding or before procedures.

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