Von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets.

Type 2B von Willebrand's disease (VWD) is an inherited bleeding disorder characterized by spontaneous binding of large von Willebrand factor (VWF) multimers to platelets in vivo. This phenomenon induces the clearance of both large multimers and platelets, usually resulting in thrombocytopenia with slightly increased platelet size. We describe a newborn with a VWD type 2B due to the heterozygous missense mutation V1316M who presented the atypical feature of giant platelets in peripheral blood. Based on this observation and literature review, we suggest that the diagnosis of VWD 2B should be always considered in patients with chronic thrombocytopenia and giant platelets.