Von Willebrands Disease

• Usually autosomal dominant

• mutations in von Willebrands factor (vWF)

  • located on chromosome 12

• males/females equally affected

Clinical Features

• bleeding

  • mucous membranes

• excess loss following trauma / surgery

• (rare to get haemarthroses, muscle bleeding c.f. Haemophilia A / Haemophilia B

Diagnosis

• APTT prolonged

• PT normal

• bleeding time prolonged

• von Willebrands factor and factor VIII low

• defective platelet function

  • reduced aggregation with ristocetin

• mild Thrombocytopenia

Types

• type 1

  • mild

  • autosomal dominant

• type 2

  • reduced proportion of high molecular weight monomers

  • autosomal dominant

• type 3

  • autosomal recessive

  • more severe

Treatment

• intermediate purity factor VIII concentrate

• desmopression for mild bleeding /prophylaxis for minor surgery

• tranexamic acid (fibrinolytic inhibitors) helpful

• genetic analysis of offspring

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