Von Willebrand disease
Description
- Commonest inherited bleeding disorder
- Mucocutaneous bleeding pattern: epistaxis, gum bleeding, easy bruising, menorrhagia, post-dental and post-partum haemorrhage
- Haemarthrosis and deep muscle bleeds are unusual - and point to type 3 (where FVIII is also very low) or to haemophilia
Types
| % | Defect | Inheritance | |
|---|---|---|---|
| 1 | 70-80% | Quantitative - partial deficiency. Function and antigen fall together | AD, variable penetrance |
| 1C | subset of 1 | Accelerated clearance. inc VWFpp/VWF:Ag ratio | AD |
| 2A | Loss of high-molecular-weight multimers -> dec platelet adhesion | AD | |
| 2B | ~20% | Gain-of-function VWF-GPIb binding -> HMW multimers + platelets cleared -> *thrombocytopenia* | AD |
| 2M | combined | dec platelet binding with normal multimers | AD |
| 2N ("Normandy") | dec FVIII binding -> *phenocopies mild haemophilia A* | AR | |
| 3 | <5% | Near-total absence. VWF:Ag undetectable, FVIII <10 IU/dL -> severe, haemophilia-like | AR |
- Acquired von Willebrand syndrome - not inherited, same phenotype, different treatment
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