Abstract:

Von Willebrand disease (WVD) is a common inherited bleeding disorder due to a defect of von Willebrand factor (VWF). VWF is a glycoprotein that crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dl) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). We report a case of an 11-month-old girl diagnosed with Type 3 VWD presented with mucocutaneous bleeding with von Willebrand factor antigen is < 1 IU/dl and positive family history of VWD.  The family study was done and five other family members were also diagnosed with either Type 1 or Type 3 VWD with variable clinical presentations.

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