von Willebrand disease

In this disorder, there is either a reduced level or abnormal function of von Willebrand factor (vWF) resulting from a wide variety of mainly missense mutations in different parts of the gene.

vWF (von-Willebrand factor), synthesized in the endothelium (and therefore is also exposed in endothelial damage) and in small quantity by megakaryocytes, is important in adhesion to the vessel as well as to other platelets (aggregation).

Classification

• Quantitative (type 1/3)
  • Type 1: AD with incomplete penetrance; leads to partial vWF deficiency.
  • Type 3: AR; leads to complete vWF deficiency.
• Qualitative (type 2)
  • Type 2A: AD; high molecular weight multimers are missing leading to impaired function of vWF.
  • Type 2B: AD; increased

Classification

Clinical presentation

Diagnosis

Specific tests

Discriminating tests

Treatment

Acquired vWD

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