Von Willebrand disease
- Lesion
The commonest inherited bleeding disorder: too little or faulty von Willebrand factor, so platelets stick poorly and factor VIII falls.
What it is
Von Willebrand factor (vWF) is a large multimeric protein made by endothelial cells and megakaryocytes. It glues platelets (through GPIb/IX) to exposed subendothelium, helps aggregation at high shear and carries and stabilizes factor VIII in plasma. Von Willebrand disease is the most common inherited bleeding disorder, usually autosomal dominant. It causes mucosal bleeding, wound bleeding and heavy menstrual bleeding, with normal platelet counts; in severe forms factor VIII also falls and deep bleeding appears.
Step by step
- Endothelium stores vWF in Weibel–Palade bodies and secretes it into plasma and subendothelium.
- After injury, vWF binds collagen and captures platelets through GPIb/IX.
- vWF also binds factor VIII and prolongs its half-life in plasma.
- Too little vWF or abnormal multimers: platelets adhere poorly, causing mucosal bleeding.
- In type 3 and severe type 1, factor VIII is degraded quickly and coagulation fails too.
Types of von Willebrand disease
| Type | Defect | Inheritance | Bleeding |
|---|---|---|---|
| Type 1 | Partial quantitative deficiency of normal vWF | Autosomal dominant | Mild to moderate, mucosal |
| Type 2 (2A most common) | Qualitative: abnormal multimers or binding | Usually autosomal dominant | Mild to moderate |
| Type 3 | Almost no vWF; factor VIII low | Autosomal recessive | Severe, joints and muscles too |
Clinical notes
- Nosebleeds, gum bleeding, prolonged bleeding from small cuts and heavy menstrual bleeding, often from menarche.
- Wide variability even within a family; vWF levels are lower in blood group O.
In the lab
- vWF antigen, ristocetin cofactor activity, factor VIII activity, multimer analysis.
Test yourself
Think of the answer, then tap the question to see it.
What two jobs does von Willebrand factor perform?
It mediates platelet adhesion to subendothelium through GPIb/IX and carries and stabilizes factor VIII.
Which type of von Willebrand disease is most common?
Type 1, a mild to moderate quantitative deficiency inherited as an autosomal dominant trait.
Why can the PTT be prolonged in von Willebrand disease?
Low vWF shortens the survival of factor VIII, lowering its level.
Elsewhere in DurgiPedia
Connections
Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.
Sources: Von Willebrand disease: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026).
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Representative model, for educational purposes only.