Haematology & Oncology

Von Willebrand Disease

Von Willebrand disease is an inherited quantitative or qualitative defect of von Willebrand factor, impairing platelet adhesion and factor VIII stability and causing predominantly mucocutaneous bleeding; treatment depends on the subtype, bleeding phenotype, procedure and a documented response plan.

In a nutshell

Von Willebrand disease is a quantitative or qualitative von Willebrand factor disorder causing mucocutaneous and procedure-related bleeding. Confirm the phenotype with repeat specialist testing, classify the subtype, and use a documented response plan: tranexamic acid for mucosal bleeding, desmopressin only when safe and effective, and von Willebrand factor concentrate for severe, major or non-responsive bleeding.

Classic presentation

A person with lifelong epistaxis, easy bruising, heavy menstrual bleeding or excessive dental and surgical bleeding, often with a family history, has abnormal von Willebrand factor testing and a normal or only mildly abnormal routine coagulation screen.

Key points

Von Willebrand factor supports platelet adhesion and carries factor VIII, so bleeding is mainly mucocutaneous but can be severe.
Type 1 is usually partial quantitative deficiency, type 2 qualitative dysfunction and type 3 severe near-absence.
Repeat specialist testing may be needed because von Willebrand factor varies with inflammation, stress, pregnancy and other factors.
Desmopressin needs a response and safety plan; it is ineffective in type 3 and generally contraindicated in type 2B.
Tranexamic acid helps mucosal and menstrual bleeding; factor-containing concentrate is used for major bleeding and many type 2 or type 3 patients.
Pregnancy and postpartum care need a written obstetric-haematology plan because levels rise in pregnancy and fall after birth.

First-line investigation

Bleeding history, full blood count, ferritin, PT/APTT, von Willebrand factor antigen and activity, and factor VIII, followed by repeat and subtype testing through a specialist laboratory.

Management

Escalate major bleeding and procedures

Contact the haemostasis centre urgently for major, critical-site, gastrointestinal, postpartum or rapidly progressive bleeding and before surgery, dental extraction or neuraxial anaesthesia; use the patient's written plan where available.^1,2,3
Use local haemostasis, tranexamic acid and specialist-directed desmopressin or von Willebrand factor-containing concentrate; support haemoglobin and circulation without delaying definitive haemostatic treatment.^1,3,6

Confirm phenotype and subtype

Take a structured bleeding and family history, check full blood count, ferritin, PT and APTT, and request von Willebrand factor antigen, activity and factor VIII through a laboratory familiar with the current UK assay pathway.^2,1,5
Repeat or extend testing when results do not fit the phenotype, and use multimer, binding, platelet or genetic studies when required to distinguish type 1, type 2 subtypes, type 3 and acquired von Willebrand syndrome.^2,1,4

Match treatment to response

Use tranexamic acid for suitable oral, nasal, dental and menstrual bleeding, coordinating gynaecology and haematology care for heavy menstrual bleeding and fertility plans.^5,3,6
Use desmopressin only in a suitable subtype after a documented response or specialist-directed plan; restrict free water and monitor sodium, and do not rely on it for type 3, type 2B or major surgery alone.^1,3,6

Use factor-containing treatment when needed

Use von Willebrand factor-containing concentrate for type 3 disease, many type 2 subtypes, major bleeding, major surgery or an ineffective or unsafe desmopressin response, with factor monitoring and targets set by the haemostasis centre.^1,3,6
Escalate recurrent bleeding, gastrointestinal angiodysplasia, suspected acquired von Willebrand syndrome, severe anaemia or treatment failure for specialist reassessment rather than repeating an unverified regimen.^1,2

Plan pregnancy, prevention and future care

Arrange a written pregnancy, delivery and postpartum plan; von Willebrand factor rises during pregnancy but can fall after birth, so postpartum haemorrhage prevention and monitoring remain necessary.^1,3,6
Treat iron deficiency, avoid aspirin and NSAIDs unless a specialist risk-benefit plan supports them, provide medical-alert information and review bleeding phenotype, treatment response, dental care and future procedures through a comprehensive care centre.^1,2,5,6

Exam traps

A normal platelet count and normal APTT do not exclude von Willebrand disease.
Do not give desmopressin blindly in type 2B or type 3 disease.
A raised von Willebrand factor during inflammation or pregnancy can mask disease; interpret the result in context.
Heavy menstrual bleeding since menarche with a personal or family bleeding history should prompt consideration of a coagulation disorder.
Postpartum bleeding can occur after initially reassuring pregnancy levels fall.

Key sources

This page is exam revision material, not medical advice, and must not be used for patient care. Always check drug doses against the BNF and current guidance. Full disclaimer.