[Type 2N von Willebrand disease (Normandy)].
Willebrand disease is the most common constitutional abnormality of hemostasis. It reflects a qualitative or quantitative abnormality of von Willebrand factor (vWF) responsible for hemorrhagic syndrome, mainly mucosal, of variable expression. Type 2N (Normandy) is a rare form of von Willebrand disease due to a qualitative abnormality of vWF that disrupts its ability to bind to factor VIII. The disease biologically combines APTT prolongation, a lower level of factor VIII, and a normal or subnormal rate of vWF, which may suggest a mild form of hemophilia A. This confusion can lead not only to a misdiagnosis but also to inappropriate treatment.
Service de pédiatrie, unité d'hématologie-oncologie infantile, hôpital de l'Archet II, 151 route de Saint-Antoine-de-Ginestière, Nice cedex 3, France. monpoux.f@chu-nice.fr
F
F
Monpoux
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P
Brunet
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F
Fischer
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A
Appert-Flory
D002675:Child, Preschool; D005260:Female; D006801:Humans; D056728:von Willebrand Disease, Type 2 / Q000175:diagnosis