Von Willebrand disease in a neonate: A case report

Abstract

Von Willebrand disease (VWD) is a constitutional bleeding disorder of autosomal inheritance characterized by a quantitative or functional abnormality of the factor Willebrand. We report the observation of a neonate with a confirmed diagnosis of von Willebrand disease in the neonatal period. This disease is a very heterogeneous clinically, phenotypically and genetically, and poses a diagnostic difficulty. The biological diagnosis is based on first-line tests (prothrombin level and activated partial thromboplastin time) completed by the measurement of the coagulant activity of factors VIII, IX and XI, as well as the activity and antigen of Von Willebrand factor (VWF). The treatment strategy for VWD should be considered in collaboration with a hematologist aiming to correcting VWF and factor VIII levels. Therefore, a recombinant VWF concentrate has recently been introduced and has proven to be effective.